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1. Serikawa T, Takahashi Y, Kikuchi A, Takakuwa K, Usuda T, Hasegawa S, Tanaka K: A Case of Infantile Cardiac Rhabdomyoma Complicated by Tuberous Sclerosis. Cardiol Res; 2010 Dec;1(1):24-26

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A Case of Infantile Cardiac Rhabdomyoma Complicated by Tuberous Sclerosis.
  • We experienced a case with fetal cardiac tumor, which was diagnosed by prenatal ultrasonographic examination, and the diagnosis was confirmed after birth.
  • The computed tomography of the head revealed the intracranial multiple calcification lesions, which indicated the symptoms of tuberous sclerosis.

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  • [Cites] J Pediatr. 2003 Nov;143(5):620-4 [14615733.001]
  • [Cites] Pediatr Cardiol. 2004 May-Jun;25(3):252-73 [15360117.001]
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  • (PMID = 28352373.001).
  • [ISSN] 1923-2829
  • [Journal-full-title] Cardiology research
  • [ISO-abbreviation] Cardiol Res
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Canada
  • [Keywords] NOTNLM ; Fetal cardiac tumor / Prenatal diagnosis / Rhabdomyoma / Tuberous sclerosis
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2. Aldrich CS, Hong CH, Groves L, Olsen C, Moss J, Darling TN: Acral lesions in tuberous sclerosis complex: insights into pathogenesis. J Am Acad Dermatol; 2010 Aug;63(2):244-51
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acral lesions in tuberous sclerosis complex: insights into pathogenesis.
  • BACKGROUND: Patients with tuberous sclerosis complex (TSC) are predisposed to developing ungual fibromas and other acral lesions.
  • OBJECTIVE: We sought to determine the numbers, types, and locations of acral skin lesions in TSC.
  • METHODS: We examined and photographed 76 adult women with TSC.
  • CONCLUSIONS: Examination of patients for skin lesions of TSC could be improved by including inspection for longitudinal nail grooves, red comets, longitudinal leukonychia, and splinter hemorrhages in addition to ungual fibromas.
  • The anatomic distribution of TSC ungual fibromas is not random and appears consistent with trauma-promoted tumor formation.

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  • [Copyright] Copyright 2009 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.
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  • (PMID = 20462663.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] ENG
  • [Grant] United States / Intramural NIH HHS / / Z01 HL002541-13; United States / NCI NIH HHS / CA / R01 CA100907-03; United States / NCI NIH HHS / CA / CA100907-01A1; United States / Intramural NIH HHS / / ZIA HL002541-14; United States / Intramural NIH HHS / / Z01 HL002541-12; United States / NCI NIH HHS / CA / CA100907-03; United States / NCI NIH HHS / CA / R01 CA100907-02; United States / NCI NIH HHS / CA / R01 CA100907-01A1; United States / NCI NIH HHS / CA / CA100907-02; United States / NCI NIH HHS / CA / R01 CA100907-04; United States / NCI NIH HHS / CA / CA100907-04; United States / NCI NIH HHS / CA / R01 CA100907
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Other-IDs] NLM/ NIHMS234580; NLM/ PMC2947366
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3. Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM, Schmithorst VJ, Laor T, Brody AS, Bean J, Salisbury S, Franz DN: Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med; 2008 Jan 10;358(2):140-51
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  • [Title] Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis.
  • BACKGROUND: Angiomyolipomas in patients with the tuberous sclerosis complex or sporadic lymphangioleiomyomatosis are associated with mutations in tuberous sclerosis genes resulting in constitutive activation of the mammalian target of rapamycin (mTOR).
  • METHODS: We conducted a 24-month, nonrandomized, open-label trial to determine whether sirolimus reduces the angiomyolipoma volume in patients with the tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.
  • Serial magnetic resonance imaging of angiomyolipomas and brain lesions, computed tomography of lung cysts, and pulmonary-function tests were performed.
  • One year after sirolimus was discontinued, the FEV1 was 62+/-411 ml above the baseline value, the FVC was 346+/-712 ml above the baseline value, and the residual volume was 333+/-570 ml below the baseline value; cerebral lesions were unchanged.
  • Suppression of mTOR signaling might constitute an ameliorative treatment in patients with the tuberous sclerosis complex or sporadic lymphangioleiomyomatosis. (ClinicalTrials.gov number, NCT00457808. )
  • [MeSH-major] Angiomyolipoma / drug therapy. Immunosuppressive Agents / therapeutic use. Lung Neoplasms / complications. Lymphangioleiomyomatosis / complications. Sirolimus / therapeutic use. Tuberous Sclerosis / complications
  • [MeSH-minor] Adult. Brain / pathology. Female. Humans. Kidney Diseases / pathology. Liver Diseases / pathology. Lung / diagnostic imaging. Lung / physiopathology. Magnetic Resonance Imaging. Male. Middle Aged. Protein Kinase Inhibitors / therapeutic use. Protein Kinases / metabolism. Radiography. Respiratory Function Tests. TOR Serine-Threonine Kinases


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4. Kwiatkowski DJ: Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC). Lymphat Res Biol; 2010 Mar;8(1):51-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC).
  • Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC) are highly desired to enable detailed investigation of the pathogenesis of these diseases.
  • Multiple rats and mice have been generated in which a mutation similar to that occurring in TSC patients is present in an allele of Tsc1 or Tsc2.
  • Unfortunately, these mice do not develop pathologic lesions that match those seen in LAM or TSC.
  • However, these Tsc rodent models have been useful in confirming the two-hit model of tumor development in TSC, and in providing systems in which therapeutic trials (e.g., rapamycin) can be performed.
  • Efforts to generate an authentic LAM model are impeded by a lack of understanding of the cell of origin of this process.

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  • (PMID = 20235887.001).
  • [ISSN] 1557-8585
  • [Journal-full-title] Lymphatic research and biology
  • [ISO-abbreviation] Lymphat Res Biol
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / P01 CA120964; United States / NINDS NIH HHS / NS / P01 NS024279; United States / NINDS NIH HHS / NS / R01 NS031535; United States / NINDS NIH HHS / NS / R37 NS031535
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Intracellular Signaling Peptides and Proteins; 0 / Tumor Suppressor Proteins; 4JG2LF96VF / tuberous sclerosis complex 2 protein; EC 2.7.1.1 / MTOR protein, human; EC 2.7.1.1 / TOR Serine-Threonine Kinases; EC 2.7.1.1 / mTOR protein, mouse; EC 2.7.11.1 / Protein-Serine-Threonine Kinases
  • [Number-of-references] 39
  • [Other-IDs] NLM/ PMC2883495
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5. Tan JH, Ng EYK, Acharya UR: Evaluation of tear evaporation from ocular surface by functional infrared thermography. Med Phys; 2010 Nov;37(11):6022-6034

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Evaluation of tear evaporation from ocular surface by functional infrared thermography.
  • PURPOSE: A novel technique was developed to measure tear evaporation and monitor its variation with respect to time, for the studying of ocular physiology based on dynamic functional infrared thermography and the first law of thermodynamics using the measured ocular surface temperatures (OSTs).
  • This is a noninvasive, noncontact temperature measuring method that is widely applied in the field of biomedicine.
  • For each thermal sequence, the ocular region was selected and warped to a standard form.

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  • [Copyright] © 2010 American Association of Physicists in Medicine.
  • (PMID = 28525014.001).
  • [ISSN] 2473-4209
  • [Journal-full-title] Medical physics
  • [ISO-abbreviation] Med Phys
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; Convection / Evaporation / Eyes / Heat transfer / Lipids / Medical imaging / Physiology / Skin / Thermal imaging / Thermography / Thin films / Visual imaging / biomedical measurement / biomedical optical imaging / biothermics / evaporation / image sequences / infrared / infrared imaging / medical image processing / tear / thermodynamics / thermography
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6. Muncy J, Butler IJ, Koenig MK: Rapamycin reduces seizure frequency in tuberous sclerosis complex. J Child Neurol; 2009 Apr;24(4):477
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Rapamycin reduces seizure frequency in tuberous sclerosis complex.
  • The authors present a 10-year-old girl with tuberous sclerosis complex who has been receiving rapamycin for 10 months for seizure control.
  • Further studies are needed to objectively investigate the benefits of rapamycin in tuberous sclerosis complex and to clarify its mechanism of seizure control.

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  • [Cites] Ann Neurol. 2008 Apr;63(4):444-53 [18389497.001]
  • (PMID = 19151365.001).
  • [ISSN] 1708-8283
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] ENG
  • [Grant] United States / NCRR NIH HHS / RR / KL2 RR024149; United States / NCRR NIH HHS / RR / RR024149-05S1; United States / NCRR NIH HHS / RR / KL2 RR024149-05S1
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anticonvulsants; 0 / Immunosuppressive Agents; 0 / oxcarbamazepine; 0H73WJJ391 / topiramate; 30237-26-4 / Fructose; 33CM23913M / Carbamazepine; W36ZG6FT64 / Sirolimus
  • [Other-IDs] NLM/ NIHMS282747; NLM/ PMC3072696
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7. Sodi A, Giambene B, Falaschi G, Caputo R, Innocenti B, Corvi A, Menchini U: Ocular surface temperature in central retinal vein occlusion: Preliminary data. Eur J Ophthalmol; 2007 Sep-Oct;17(1):755-759

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Ocular surface temperature in central retinal vein occlusion: Preliminary data.
  • PURPOSE: To compare ocular surface temperature (OST) measures in patients with central retinal vein occlusion (CRVO) and controls.
  • Ischemic CRVO eyes showed lower temperatures than nonischemic ones.

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  • (PMID = 28221516.001).
  • [ISSN] 1724-6016
  • [Journal-full-title] European journal of ophthalmology
  • [ISO-abbreviation] Eur J Ophthalmol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Italy
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8. Napolioni V, Curatolo P: Genetics and molecular biology of tuberous sclerosis complex. Curr Genomics; 2008 Nov;9(7):475-87
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Genetics and molecular biology of tuberous sclerosis complex.
  • Tuberous Sclerosis Complex is a multisystem disorder exhibiting a wide range of manifestations characterized by tumour-like lesions called hamartomas in the brain, skin, eyes, heart, lungs and kidneys.
  • Tuberous Sclerosis Complex is genetically determined with an autosomal dominant inheritance and is caused by inactivating mutations in either the TSC1 or TSC2 genes.
  • Mutations in TSC1/2 genes impair the inhibitory function of the hamartin/tuberin complex, leading to phosphorylation of the downstream effectors of mTOR, p70 S6 kinase (S6K), ribosomal protein S6 and the elongation factor binding protein 4E-BP1, resulting in uncontrolled cell growth and tumourigenesis.Despite recent promising genetic, diagnostic, and therapeutic advances in Tuberous Sclerosis Complex, continuing research in all aspects of this complex disease will be pivotal to decrease its associated morbidity and mortality.
  • In this review we will discuss and analyse all the important findings in the molecular pathogenesis of Tuberous Sclerosis Complex, focusing on genetics and the molecular mechanisms that define this multisystemic disorder.

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  • (PMID = 19506736.001).
  • [ISSN] 1389-2029
  • [Journal-full-title] Current genomics
  • [ISO-abbreviation] Curr. Genomics
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
  • [Other-IDs] NLM/ PMC2691673
  • [Keywords] NOTNLM ; Tuberous sclerosis / genetics / germ-line mosaicism / hamartin / multifactorial disease / mutations / rapamycin. / tuberin
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9. Spanoudaki VC, Lau FWY, Vandenbroucke A, Levin CS: Physical effects of mechanical design parameters on photon sensitivity and spatial resolution performance of a breast-dedicated PET system. Med Phys; 2010 Nov;37(11):5838-5849

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Physical effects of mechanical design parameters on photon sensitivity and spatial resolution performance of a breast-dedicated PET system.
  • PURPOSE: This study aims to address design considerations of a high resolution, high sensitivity positron emission tomography scanner dedicated to breast imaging.
  • METHODS: The methodology uses a detailed Monte Carlo model of the system structures to obtain a quantitative evaluation of several performance parameters.
  • Special focus was given to the effect of dense mechanical structures designed to provide mechanical robustness and thermal regulation to the minuscule and temperature sensitive detectors.
  • RESULTS: For the energies of interest around the photopeak (450-700 keV energy window), the simulation results predict a 6.5% reduction in the single photon detection efficiency and a 12.5% reduction in the coincidence photon detection efficiency in the case that the mechanical structures are interspersed between the detectors.
  • However for lower energies, a substantial increase in the number of detected events (approximately 14% and 7% for singles at a 100-200 keV energy window and coincidences at a lower energy threshold of 100 keV, respectively) was observed with the presence of these structures due to backscatter.
  • The number of photon events that involve multiple interactions in various crystal elements is also affected by the presence of the structures.
  • For photon events involving multiple interactions among various crystal elements, the coincidence photon sensitivity is reduced by as much as 20% for a point source at the center of the field of view.
  • CONCLUSIONS: Mechanical structures can have a considerable effect on system sensitivity, especially for systems processing multi-interaction photon events.
  • Various mechanical structure designs are currently under evaluation in order to achieve optimum trade-off between temperature stability, accurate detector positioning, and minimum influence on system performance.

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  • [Copyright] © 2010 American Association of Physicists in Medicine.
  • (PMID = 28525006.001).
  • [ISSN] 2473-4209
  • [Journal-full-title] Medical physics
  • [ISO-abbreviation] Med Phys
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; Crystal structure / Image detection systems / Image reconstruction / Image sensors / Medical imaging / Monte Carlo methods / Monte Carlo simulations / Ozone / Photodetectors (including infrared and CCD detectors) / Photons / Position sensitive detectors / Positron emission tomography / Positron emission tomography (PET) / Spatial resolution / biological organs / breast imaging / gynaecology / high resolution / photodetectors / photon sensitivity / positron emission tomography / positron emission tomography (PET) / spatial resolution
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10. Datta AN, Hahn CD, Sahin M: Clinical presentation and diagnosis of tuberous sclerosis complex in infancy. J Child Neurol; 2008 Mar;23(3):268-73
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical presentation and diagnosis of tuberous sclerosis complex in infancy.
  • The age-dependent nature of the characteristic features of tuberous sclerosis complex has historically presented challenges for the diagnosis in infancy.
  • Although the increasing availability of neuroimaging and genetic testing has facilitated the diagnosis in neonates and infants, there are few reports describing how tuberous sclerosis complex presents in this age group.
  • We performed a retrospective review of children diagnosed with tuberous sclerosis complex during the first year of life, compiling their clinical features at presentation and diagnosis, seizure history, and imaging findings.
  • We identified 41 infants diagnosed with tuberous sclerosis complex before age 1 year.
  • Five infants (12%) had a family history of tuberous sclerosis complex.
  • A definitive diagnosis of tuberous sclerosis complex was accomplished antenatally in 4 patients, whereas the rest were diagnosed at a median age of 2 months.
  • Neuroimaging resulted in a definitive diagnosis of tuberous sclerosis complex in 95% of patients.
  • The diagnosis of tuberous sclerosis complex in infancy is aided by a high index of suspicion and timely access to neuroimaging.
  • Early diagnosis of tuberous sclerosis complex may be essential to the success of future therapies by providing a window of opportunity for their use.
  • [MeSH-major] Autistic Disorder / pathology. Heart Neoplasms / pathology. Rhabdomyoma / pathology. Spasm / pathology. Tuberous Sclerosis / diagnosis. Tuberous Sclerosis / pathology
  • [MeSH-minor] Brain / pathology. Diagnosis, Differential. Female. Humans. Hypopigmentation / complications. Hypopigmentation / pathology. Infant. Infant, Newborn. Infant, Newborn, Diseases. Magnetic Resonance Imaging. Male. Prenatal Diagnosis. Retrospective Studies. Syndrome. Tomography, X-Ray Computed

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  • (PMID = 18230839.001).
  • [ISSN] 0883-0738
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Canada
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11. Vail EA, Rakowski SK, Numis AL, Thiele EA: Role of mutational analysis in diagnosis of tuberous sclerosis complex. Clin Genet; 2009 Mar;75(3):282-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Role of mutational analysis in diagnosis of tuberous sclerosis complex.
  • We describe three cases in whom identification of a disease-causing mutation in the TSC1 or TSC2 gene preceded the appearance or detection of symptoms sufficient for a clinical diagnosis of tuberous sclerosis complex (TSC).
  • We suggest that genetic testing be given a more prominent role in the evaluation of individuals with a family history of TSC or symptoms suggestive of TSC and propose that diagnostic criteria be revised to include genetic testing.
  • [MeSH-major] DNA Mutational Analysis. Tuberous Sclerosis / diagnosis

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  • (PMID = 19250385.001).
  • [ISSN] 1399-0004
  • [Journal-full-title] Clinical genetics
  • [ISO-abbreviation] Clin. Genet.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Tumor Suppressor Proteins; 0 / tuberous sclerosis complex 1 protein; 4JG2LF96VF / tuberous sclerosis complex 2 protein
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12. Hancock E, O'Callaghan F, Osborne JP: Effect of melatonin dosage on sleep disorder in tuberous sclerosis complex. J Child Neurol; 2005 Jan;20(1):78-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Effect of melatonin dosage on sleep disorder in tuberous sclerosis complex.
  • We report a randomized, double-blind, controlled, crossover trial investigating the response to oral melatonin using two dose regimens in patients with sleep disorders associated with tuberous sclerosis complex.
  • Eight outpatients with tuberous sclerosis complex and sleep disorder received either 5 or 10 mg of melatonin.
  • Sleep latency, total sleep time, number of awakenings, and seizure frequency were recorded in sleep and seizure diaries.
  • No evidence of a dose effect between 5 and 10 mg was seen with respect to any outcome measure. (The 5 mg results are given first: sleep latency, 86 and 76 minutes; total sleep time, 8 hours, 57 minutes and 9 hours, 4 minutes; and sleep fragmentation, 0.8 and 1.0).
  • We propose that an initial trial of 5 mg melatonin is worth considering in patients with tuberous sclerosis complex and sleep disorder.
  • [MeSH-major] Antioxidants / therapeutic use. Melatonin / therapeutic use. Sleep Wake Disorders / drug therapy. Sleep Wake Disorders / etiology. Tuberous Sclerosis / complications

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  • (PMID = 15791928.001).
  • [ISSN] 0883-0738
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] eng
  • [Publication-type] Clinical Trial; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antioxidants; JL5DK93RCL / Melatonin
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13. Curatolo P: MRI appearance of Sturge-Weber syndrome in tuberous sclerosis complex: is the neural crest the culprit? J Child Neurol; 2009 Mar;24(3):263-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] MRI appearance of Sturge-Weber syndrome in tuberous sclerosis complex: is the neural crest the culprit?
  • Several neurocutaneous syndromes have been reported in association with tuberous sclerosis complex.
  • The coexistence of intracranial features of Sturge-Weber syndrome in patients with a confirmed diagnosis of tuberous sclerosis complex has been recently described.
  • The coexistence of signs of both diseases in the same patient could be explained by abnormal neural crest development, and by mutually enhanced common altered pathways.
  • Mutation characterization of tuberous sclerosis complex and a better definition of the clinical and neuroimaging phenotypes could offer a crucial contribution to the etiopathogenetic mechanisms of these disorders.
  • [MeSH-major] Neural Crest / embryology. Sturge-Weber Syndrome / complications. Sturge-Weber Syndrome / pathology. Tuberous Sclerosis / complications
  • [MeSH-minor] Brain / pathology. Humans. Magnetic Resonance Imaging. Mutation, Missense. Neovascularization, Pathologic. Tumor Suppressor Proteins / genetics


14. Luat AF, Makki M, Chugani HT: Neuroimaging in tuberous sclerosis complex. Curr Opin Neurol; 2007 Apr;20(2):142-50
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Neuroimaging in tuberous sclerosis complex.
  • PURPOSE OF REVIEW: In this review we discuss recent advances in the neuroimaging of patients with tuberous sclerosis complex (TSC), highlighting its application in improving clinical management, particularly in the case of intractable epilepsy.
  • RECENT FINDINGS: Progress in structural and functional imaging has led to further characterization of the brain lesions in TSC.
  • New magnetic resonance imaging techniques that can delineate the extent of structural brain abnormalities in TSC have been developed.
  • Diffusion tensor imaging unveils the microstructural abnormalities of the brain lesions and of the morphologically normal appearing white matter in TSC.
  • Positron emission tomography scanning with 2-deoxy-2-[18F]fluoro-D-glucose can assess the full extent of functional brain abnormalities in TSC.
  • The use of alpha [11C] methyl-L-tryptophan positron emission tomography scanning has proven to be a useful tool in the identification of epileptogenic tubers and has improved the outcome of surgery for epilepsy in TSC.
  • SUMMARY: Major advances of neuroimaging in TSC have shown evidence of widespread structural and functional brain abnormalities.
  • In TSC patients with intractable epilepsy, new neuroimaging modalities can now provide an accurate assessment of the epileptogenic zone, thereby permitting improved identification of patients who can have good seizure outcome following surgery for epilepsy.
  • [MeSH-major] Brain / pathology. Magnetic Resonance Imaging / methods. Tuberous Sclerosis / diagnosis

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  • (PMID = 17351483.001).
  • [ISSN] 1350-7540
  • [Journal-full-title] Current opinion in neurology
  • [ISO-abbreviation] Curr. Opin. Neurol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 65
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15. Wong V: Study of the relationship between tuberous sclerosis complex and autistic disorder. J Child Neurol; 2006 Mar;21(3):199-204
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Study of the relationship between tuberous sclerosis complex and autistic disorder.
  • There has been increasing awareness that there are behavioral phenotypes in tuberous sclerosis complex with neuropsychiatric symptom complex such as autistic disorder and attention-deficit hyperactivity disorder (ADHD).
  • However, the neurobiologic basis of autistic disorder in tuberous sclerosis complex is still unknown.
  • We studied two cohorts of children followed up since 1986 until 2003, one cohort with tuberous sclerosis complex and another cohort with autistic disorder, to determine the incidence of autistic disorder in tuberous sclerosis complex and the incidence of tuberous sclerosis complex in autistic disorder respectively.
  • We established a Tuberous Sclerosis Complex Registry in 1985 at the University of Hong Kong.
  • Three had a positive family history of tuberous sclerosis complex.
  • Thus, the total number of tuberous sclerosis complex cases was 47.
  • We adopted the diagnostic criteria of tuberous sclerosis complex for case ascertainment.
  • The period prevalence rate of tuberous sclerosis complex for children and adolescents aged < 20 years is 3.5 per 10,000 (on Hong Kong island, excluding the eastern region with 125,100 aged < 20 years in 2003).
  • Of 44 cases with tuberous sclerosis complex, 7 had autistic disorder.
  • Thus, the incidence of autistic disorder in tuberous sclerosis complex is 16%.
  • During the 17-year period (1986-2003), we collected a database of 753 children (668 boys and 84 girls; male to female ratio 8:1) with autistic disorder and pervasive developmental disorders.
  • For all children with autistic disorder or pervasive developmental disorders, we routinely examined for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots, which appear in 50% of children with tuberous sclerosis complex by the age of 2 years.
  • For those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up.
  • Of these, seven had tuberous sclerosis complex.
  • Thus, the incidence of tuberous sclerosis complex in autistic disorder is 0.9%.
  • Future studies should be directed toward looking at the various behavioral phenotypes in tuberous sclerosis complex and defining these with standardized criteria to look for any real association with the underlying genetic mutation of TSC1 or TSC2 gene or even the site of tubers in the brain.
  • [MeSH-major] Autistic Disorder / epidemiology. Tuberous Sclerosis / epidemiology

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  • (PMID = 16901420.001).
  • [ISSN] 0883-0738
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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16. Dhani NC, Tu D, Parulekar W, Seymour L, Moore MJ: A retrospective analysis of tumor size (TS) as a continuous rather than discrete variable in advanced pancreatic cancer. J Clin Oncol; 2009 May 20;27(15_suppl):e15565

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A retrospective analysis of tumor size (TS) as a continuous rather than discrete variable in advanced pancreatic cancer.
  • Analyzing TS as a continuous variable (TS-CV) has been suggested as a more robust indicator of efficacy.
  • Measures of TS at baseline and 8 wks were transformed and represented as a logarithm of the sum of the longest diameters.
  • Groups were compared using Wilcoxon rank-sum test.
  • RESULTS: In PA1, TS was significantly decreased in the Gem arm (mean d-LTS 0.087 on MMPI vs. -0.066 on Gem; p<0.0001), in keeping with the OS benefit (p<0.001).
  • In PA3, for all patients, decrease in TS was significantly larger for the combination arm (mean d- LTS -0.148 on combination vs. -0.114 on Gem; p=0.04), consistent with the OS benefit (p=0.038).

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  • (PMID = 27962325.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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17. Ishibashi K, Okada N, Ishiguro T, Yokoyama M, Miyazaki T, Sano M, Yamada H, Ishida H: Polymorphisms of GSTP1, GSTT1, GSTM1, MTHFR, TS, ERCC1, and ERCC2 in metastatic colorectal cancer treated by first-line mFOLFOX6 chemotherapy. J Clin Oncol; 2009 May 20;27(15_suppl):e14628

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Polymorphisms of GSTP1, GSTT1, GSTM1, MTHFR, TS, ERCC1, and ERCC2 in metastatic colorectal cancer treated by first-line mFOLFOX6 chemotherapy.
  • Polymorphisms of 5 genes involved in drug metabolism (glutathione S-transferase (GST) P1 (IIe 105 Val), GSTT1 deletion, and GSTM1 deletion, methylenetetrahydrofolate reductase (MTHFR) (Ala 677 Val), and a 6-base pair (bp) deletion in the 3'-untranslated region (UTR) of thymidylate synthase (TS)), and polymorphisms of two DNA repair genes (excision repair cross complementing group 1 (ERCC1): Asp 118 Asn and ERCC2: Lys 751 Gln) were assessed in these patients by PCR-RFLP or the invader technique.
  • RESULTS: The distribution of the genotypes of GSTP1, GSTT1, TS, ERCC1, and ERCC2 in the present Japanese patients (but not that of GSTM1 or MTHFR), differed significantly from the distribution of these genotypes in a Caucasian population.
  • However, patients who had both alleles containing the 6-bp nucleotide fragment in the 3'UTR of TS showed significantly shorter overall survival than those who had at least one allele without the 6-bp nucleotide fragment (p=0.03).
  • CONCLUSIONS: These results suggest that 3'UTR polymorphism of TS may be an important predictor of overall survival for Japanese patients with metastatic colorectal cancer receiving first-line 5-FU/oxaliplatin therapy.

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  • (PMID = 27964222.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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18. Audet R, Shen C, Edgerton S, Lay L, Vang Nielsen K, Thor AD, Chang JC, Miller KD, Sledge GW Jr, Leyland-Jones B: Thymidilate synthase (TS), thymidine phosphorylase (TP), dihydropyrimidine dehydrogenase (DPD), and dihydrofolate reductase (DHFR) as predictive markers of capecitabine efficacy in breast cancer patients. J Clin Oncol; 2009 May 20;27(15_suppl):11033

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Thymidilate synthase (TS), thymidine phosphorylase (TP), dihydropyrimidine dehydrogenase (DPD), and dihydrofolate reductase (DHFR) as predictive markers of capecitabine efficacy in breast cancer patients.
  • The expression and/or gene copy number of TS, TP, DPD and DHFR was assessed and correlated with time-to progression (TTP) and progression-free survival (PFS).
  • METHODS: Adult female patients with pathologically confirmed breast cancer and locally advanced or metastatic disease were treated with C 1000 mg/m<sup>2</sup> BID days 1-14 of a 21-day cycle.
  • Total RNA was isolated from 32 FFPE tissue samples containing at least 70% tumor cells and RNA levels for TS, TP, DPD and DHFR were quantified using real time RT-PCR and Affymetrix GeneChip microarrays.
  • Custom made TS and TP FISH probes (Dako, Glostrup, Denmark) were used to evaluate gene copy number and gene to reference ratios in at least 60 morphologically intact non-overlapping nuclei.
  • RESULTS: Higher TS gene copy number was significantly associated with a decrease in PFS (HR 1.46, 95% CI 1.08 to 1.96, p=0.014) and TTP (HR 1.49, 95% CI 1.05 to 2.13, p=0.028).
  • However, the association between TS RNA levels (expressed as Ct values) and PFS (HR 0.82, 95% CI 0.61 to 1.11, p=0.198) or TTP (HR 0.74, 95% CI 0.49 to 1.14, p=0.172) failed to reach statistical significance.
  • RNA levels, determined by Affymetrix, were significantly correlated with RT-PCR for TS (r= -0.5073, p=0.0004) and DHFR (r=-0.50994, p=0.003).
  • CONCLUSIONS: These data indicate that TS gene copy number, assessed by FISH with proper standardization, might be a useful and easily accessible marker for C sensitivity in human breast cancer and warrants further investigation.

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  • (PMID = 27964007.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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19. Virk N, Yang D, Lenz HJ, El-Khoueiry AB, Danenberg KD, Iqbal S: Molecular profiling in patients (pts) with upper gastrointestinal (UGI) cancers correlated with clinical outcome. J Clin Oncol; 2009 May 20;27(15_suppl):e22042

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Gene expression levels of thymidylate synthase (TS), thymidylate phosphorylase (TP), epidermal growth factor receptor (EGFR) and excision repair cross complementing (ERCC-1) have been shown to be associated with outcomes in lung, gastric and colon cancer.
  • We evaluated TS, ERCC-1, EGFR and TP gene expression levels in patients with UGI cancers.
  • The primary objective was to determine a correlation between TS, TP, ERCC1 and EGFR and correlate with clinical outcome.
  • Characteristics of these 80 pts: (16 females, 64 males ); median age 61 years (range 34-85); tumor types evaluated - 32 (40%) esophageal, 24(30%) gastric, 24(30%) GE junction; stages- 53 % IV, 21% III, 12% II, 2% I were evaluated for intratumoral gene expression of TS, TP, ERCC-1, & EGFR by real time quantitative PCR using Taqman technology from microdisected paraffin-embedded tumor sections.
  • RESULTS: High TS expression was associated with shorter OS (12.8 months vs. 23.7 months p=0.036).
  • A significant correlation was found between TP & ERCC-1 (p=0.0078, r=0.37); TP & TS (p=0.0128, r=0.35); TP & EGFR (p=0.0065, r=0.39); TS & ERCC-1 (p=0.0004, r=0.39); ERCC-1 & EGFR (p=0.025, r=0.30).
  • No statistically significant relationship was found between TS & EGFR (p=0.06,r=0.25).
  • CONCLUSIONS: TS mRNA levels were shown to be associated with OS in UGI tumors, consistent with data reported in colon cancer.
  • TS gene expression was significantly associated with expression levels of ERCC-1.
  • These data show for the first time that molecular pathways of cytotoxic agents are linked to the EGFR pathway suggesting that sensitivity to fluoropyrimidines, oxaliplatin, and EGFR inhibitors may be associated.

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  • (PMID = 27963224.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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20. Stoehlmacher J, Goekkurt E, Hoeffken G, Zinsky R, Lynch F, Buettner H, Scheil-Bertram S, Schirren J, Ehninger G, Fisseler-Eckhoff A: Thymidylate synthase polymorphisms and immunohistochemistry in non-small cell lung cancer. J Clin Oncol; 2009 May 20;27(15_suppl):11101

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Thymidylate synthase polymorphisms and immunohistochemistry in non-small cell lung cancer.
  • : 11101 Background: Recently, pemetrexed has been introduced into the treatment of non-small cell lung cancer (NSCLC).
  • There's evidence that pemetrexed appears to be more efficient in non squamous NSCLC including adenocarcinoma (AC) and large cell carcinoma (LCC).
  • TS represents a major target enzyme of pemetrexed.
  • We evaluated the expression of TS among different histological types of NSCLC and its association with functional genetic polymorphisms of the TS gene.
  • Immunohistochemistry (IHC) was performed using a mouse monoclonal antibody to TS.
  • TS stained sections were scored for cytoplasmic and nuclear localization.
  • For each compartment, the tumor was evaluated for the estimated percentage of positive cells with the greatest intensity within the tumor.
  • Genotyping of TS-VNTR including the G/C SNP and TS1394del6 was performed by PCR based RFLP techniques.
  • Genotypes supposed to be associated with low expression were grouped (group A: 2R/2R or 2R/3RC or 3RC/3RC + -6/-6) and compared to genotype groups associated with high expression (group B: 2R/3RG or 3RC/3RG or 3RG/3RG + -6/+6 or +6/+6).
  • Distribution of histology was as follows: 50% AC, 42% squamous cell carcinoma (SCC), 3% LCC and 5% mixed or other histological subtypes.
  • There was no significant difference between histological subtypes of NSCLC with respect to TS protein expression.
  • CONCLUSIONS: TS polymorphisms are significantly associated with histology subtypes in NSCLC.

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  • (PMID = 27963465.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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21. Roth AD, Tejpar S, Yan P, Fiocca R, Dietrich D, Delorenzi M, Labianca R, Cunningham D, Van Cutsem E, Bosman F: Stage-specific prognostic value of molecular markers in colon cancer: Results of the translational study on the PETACC 3-EORTC 40993-SAKK 60-00 trial. J Clin Oncol; 2009 May 20;27(15_suppl):4002

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • We included expression of P53, SMAD4, thymidylate synthetase (TS) and hTERT, mutations of KRAS and BRAF, microsatellite instability (MSI) and 18qLOH.
  • METHODS: 1,564 formalin fixed paraffin embedded tissue blocks were prospectively collected and DNA from normal and tumor tissue was extracted after macrodissection.
  • High P53, TS and hTERT expression and SMAD4 loss were assessed by immunohistochemistry.
  • KRAS exon 2 and BRAF exon 15 mutations were analyzed by allele specific real time PCR.
  • An interaction test for differences between marker prognostic value for SII and SIII was significant for MSI (p=0.04) and 18qLOH (p=0.04) in SII.
  • The possibility that the stages represent different diseases, rather than sequential steps in the evolution of a single disease, needs to be considered.

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  • (PMID = 27961825.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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22. Yamamoto D, Yoshida H, Iwase S, Odagiri H, Kitamura K: TS-1 in patients with capecitabine-resistant breast cancer. J Clin Oncol; 2009 May 20;27(15_suppl):1103

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] TS-1 in patients with capecitabine-resistant breast cancer.
  • : 1103 Background: TS-1 is a novel oral anticancer drug, composed of tegafur, gimestat and otastat potassium in a molar ratio of 1:0.4:1, based on the biochemical modulation of 5-Fuorouracil.
  • To evaluate the efficacy and safety of TS-1 in patients with capecitabine-resistant metastatic breast cancer (MBC).
  • METHODS: Forty patients with MBC who failed capecitabine-based chemotherapy, received TS-1 (100 mg/m<sup>2</sup>) at four centers.
  • Resistance to capecitabine was defined as either progression of disease during treatment, failure to achieve regression of disease after at least four courses, or rapid recurrence after completion of therapy.
  • Ten pts (25 %) achieved a partial response, 12 patients (30 %) patients had stable disease, and 18 (45 %) progressive disease.
  • The median time to disease progression was 26.6 weeks.
  • 7 pts experienced serious TS-1- related gastrointestinal disorder requiring dose modifications in 3 pts and treatment discontinuation in 4 pt.
  • Further, interestingly, 6 of the 40 patients (15.0%) who received TS-1 did hand-foot syndrome (HFS), although 20 of the 40 patients (50.0%) who had received capecitabine, developed HFS.
  • CONCLUSIONS: This study confirms that TS-1 achieves a high tumor control rate in pretreated MBC pts and is active in patients with capecitabine-resistant breast cancer.
  • TS-1 should be considered the reference treatment in this setting based on consistently high efficacy and good tolerability.

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  • (PMID = 27962169.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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23. Golshayan AR, Elson P, Wood LS, Garcia JA, Dreicer R, Rini BI: Association of tumor burden characteristics with outcomes in patients (pts) with metastatic renal cell carcinoma (mRCC) treated with sunitinib. J Clin Oncol; 2009 May 20;27(15_suppl):5043

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Association of tumor burden characteristics with outcomes in patients (pts) with metastatic renal cell carcinoma (mRCC) treated with sunitinib.
  • METHODS: Pts with clear-cell mRCC treated with sunitinib from June 1, 2004, to October 5, 2007, were retrospectively identified.
  • CT scan images were re-reviewed from baseline, at the time of maximal tumor burden shrinkage (TS), at time of disease progression and at time of last assessment prior to death.
  • TB and percent TS were measured per RECIST criteria.
  • Sites of metastases included: lung (87%), mediastinal lymph nodes (52%), retroperitoneal lymph nodes (36%), adrenal (29%), bone (38%), liver (22%), pancreas (14%), kidney (7%), and brain (6%).
  • Overall response rate was 52% and 87% had some degree of TS.
  • In multivariable analysis, disease confined to above the diaphragm (p = 0.03) and total TB <13cm (p = 0.09) prior to sunitinib were independent positive predictors of PFS.
  • Increased TS while on sunitinib was also prognostic for OS (p < 0.001).
  • At time of disease progression (PD), tumor location and pattern of progression were not associated with OS.
  • At the time of last assessment prior to death, median TB was 23.9 cm, significantly higher (p < 0.001) than in pts still alive (median TB 14.4 cm).
  • CONCLUSIONS: Tumor burden shrinkage and tumor burden at time of disease progression are associated with overall survival in pts with mRCC treated with sunitinib.

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  • (PMID = 27962954.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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24. Rodriguez-Pascual J, Garcia E, Lopez-Rios F, Cubillo A, Diaz-Padilla I, Hernando O, Ugidos L, Calvo I, Duran I, Hidalgo M: Use of combined biomarkers analysis to predict response to chemotherapy in colorectal cancer: A single-institution feasibility study. J Clin Oncol; 2009 May 20;27(15_suppl):11074

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • METHODS: Colorectal cancer tumors were prospectively analyzed with a predefined set of 11 molecular targets, including: KRas and PI3K mutations, EGFR amplification (FISH), and ERCC-1, TS, TP expression by IHC.
  • ERCC-1 was positive in 5/78 (6.4%) and TS was positive in 47%.
  • In this last group for whom the response to multiple agents is known, the panel predictive the most effective treatment in 14 of 24 cases.

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  • (PMID = 27963192.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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25. Ju J, Song B, Wang Y: Impacts of microRNA-215 on cell proliferation and chemotherapy resistance in colon cancer and osteosarcoma. J Clin Oncol; 2009 May 20;27(15_suppl):2542

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Impacts of microRNA-215 on cell proliferation and chemotherapy resistance in colon cancer and osteosarcoma.
  • METHODS: miR-215 was ectopically expressed by transient transfection in both human colon cancer cell lines and osteosarcoma cell lines.
  • The impact of miR-215 on cell proliferation, cell cycle control, chemosensitivity and down stream targets were characterized.
  • The expression of miR-215 in colorectal cancer specimens and normal adjacent tissues was quantified by real time-qRT-PCR analysis.
  • RESULTS: In this study, we discovered that miR-215 down-regulates the expression of both dihydrofolate reductase (DHFR) and thymidylate synthase (TS), two of the most important chemotherapeutic targets, in human osteosarcoma U-2 OS and colon cancer HCT-116 (wt-p53) cell lines.
  • Cells with elevated miR-215 expression are more resistant to DHFR inhibitor methotrexate (MTX) or TS inhibitor Tomudex (TDX) treatment.
  • Ectopically over-expressing miR-215 triggers reduced cell proliferation and increased G2 arrest, at least in part, through the induction of p53 and p21. miR-215 transfected cells with reduced proliferating phenotype were resist to MTX or TDX treatment due to deceased cell cycle in S phase.
  • The expression of endogeneous miR-215 was highly elevated in CD133<sup>+/HI</sup> CD44<sup>+/HI</sup> colon cancer stem cells compared to CD133<sup>-</sup> CD44<sup>-</sup> colon cancer cells, suggesting that tumor stem cells may be avoiding cellular and DNA damage caused by chemotherapy with a reduced proliferating phenotype mediated by certain miRNAs such as miR-215.
  • The elevated expression of miR-215 in colon cancer stem cells with slow proliferation rate and resistance to chemotherapy further supports the role of miR-215 in cell proliferation and chemotherapy resistance.

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  • (PMID = 27961866.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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26. Peterson S, Polf J, Frank S, Bues M, Smith A: Abstracts. Med Phys; 2007 Jun;34(6Part23):2627-2642

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Understanding the effect of these perturbations on the delivered dose will help in determination of appropriate treatment structure volume (TS) expansions to ensure adequate coverage.
  • Using a simple dose calculation program, the simulated dose spots were used to create a treatment plan to deliver a uniform 75 Gy dose to a TS within a water phantom.
  • To determine effects of steering uncertainties, small random magnetic field perturbations (ΔB⩽±0.1%) were added to the steering parameters used to deliver a uniform TS dose.
  • Variations in the dose delivered to the TS and an adjacent critical structure (CS) due to magnetic steering uncertainties were determined.
  • This included determination of dose hot and cold spots in the TS, and changes to the dose volume histogram (DVH) of the TS and CS.
  • RESULTS: The TS volume receiving 95% of the prescribed dose decreased by as much as 7% and the maximum TS dose increased by as much as 13% due to random magnetic steering uncertainties.
  • The maximum possible dose hot and cold spots created by deliberately moving adjacent spots in the TS were calculated to be 187% and 52% of the prescription dose, respectively.

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  • [Copyright] © 2007 American Association of Physicists in Medicine.
  • (PMID = 28493560.001).
  • [ISSN] 2473-4209
  • [Journal-full-title] Medical physics
  • [ISO-abbreviation] Med Phys
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; Drug delivery / Magnetic fields / Magnetic materials / Magnets / Medical treatment planning / Monte Carlo methods / Proton therapy / Protons
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27. Lamas MJ, Balboa E, Duran G, Rana P, Gomez A, Bernardez B, Lopez R, Carracedo A, Barros F: Analysis of pharmacogenetic biomarkers in rectal patients trated with chemoradiotherapy. J Clin Oncol; 2009 May 20;27(15_suppl):e15051

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • METHODS: 77 stage II/III rectal patients were genotyped using direct sequencing (TS VNTR) and SNAPshot (DPYD, EGFR) techniques.
  • We have studied Thymidylate synthetase (TS VNTR; high expression haplotypes: TSER 2R/3R, 3C/3G, 3G/3G and low expression: TSER 2R/2R, 2R/3C, 3C/3C; TS 1494del6: associated to a better efficay of 5Fu), dihydropyrimidine dehydrogenase (DPYD; DPYD*2 associated to worse toxicity), EGFR (CA repeats in intron 1: 16/16 associated to worse efficacy) polymorphisms.
  • 50 patients (64.9%) and 27 (35.1%) had low and high expression genotype for TS respectively. pCR (TRG1) was obtained in 24 patients (31,6%) and microscopic foci (TRG2) in 14 (18,2%), TRG 3-4 in 38 (49,3%), and 1 patient had no response (TRG5).
  • We haven't found a statistically significant relationship between TRG1 and TS status, or any other biomarker studied.
  • CONCLUSIONS: Biomarkers EGFR (intron 1 CA repeats), TS (TS 1494del6, TS VNTR) and DPYD in blood samples, are not good enough to predict response to RQ in rectal cancer.

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  • (PMID = 27964541.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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28. Yamada Y, Yamamoto S, Ohtsu A, Suzuki Y, Nasu J, Yamaguchi K, Denda T, Tsuji A, Hara Y, Boku N, Gastrointestinal Oncology Study Group/Japan Clinical Oncology Group: Impact of dihydropyrimidine dehydrogenase status of biopsy specimens on efficacy of irinotecan plus cisplatin, S-1, or 5-FU as first-line treatment of advanced gastric cancer patients in JCOG9912. J Clin Oncol; 2009 May 20;27(15_suppl):4535

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Excision repair cross-complementing group 1 (ERCC1), thymidylate synthase (TS) and dihydropyrimidine dehydrogenase (DPD) are reportedly related to outcome of advanced gastric cancer (AGC) patients (pts) treated with IP or 5-FU.
  • Efficacy analyses are performed to evaluate the status of ERCC1, TS, DPD and 5 biomarkers related to anticancer drug sensitivity in first-line pts treated with IP, S-1, or 5-FU monotherapy under controlled conditions.
  • Using laser-captured microdissection and real-time RT-PCR, we analyzed mRNA expression of ERCC1, TS, DPD in paraffin-embedded specimens.
  • Expression levels of each gene were categorized into low and high values at each median.
  • RESULTS: The subjects with available tissue for analysis were representative of all randomized pts; 232 samples were assessable for TS, 168 for DPD, and 235 for ERCC1.
  • Pts with high TS showed worse progression-free survival (PFS) compared with those with low TS (hazard ratio (HR):1.26 [95%CI: 0.97-1.63]) in all pts; there was no difference in PFS between DPD and ERCC1 expression level.
  • IP showed better PFS than S-1 in low DPD (HR: 0.57 [95%CI: 0.32-1.01]) but not in high DPD (HR: 1.24 [95%CI: 0.76-2.04]); there was no clear difference in PFS between pts treated with IP and S-1 regardless of TS and ERCC1 expression status.
  • CONCLUSIONS: This large analysis showed the prognostic value of TS status in AGC pts and the predictive value of DPD status for IP and S-1 as first-line treatment.

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  • (PMID = 27962991.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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29. Ubillos L, Berois N, Mazal D, Braña V, Yacoel C, Masllorens A, Berriel E, Rondan M, Carriquiry L, Osinaga E: Involvement of ppGalNAc-T6, a new colon cancer marker, in the molecular basis of simple mucin-type O-glycosylated antigen expression. J Clin Oncol; 2009 May 20;27(15_suppl):e15060

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • These structures which are related with the malignant behavior are actively investigated as immunotherapeutic targets.
  • The objective of this work was to describe the abnormal expression of ppGalNAc-Ts in colon cancer comparing its relationship with incomplete O- glycosylated antigens.
  • METHODS: We studied the gene expression of ppGalNAc-Ts in colon cell lines by RT-PCR assays.
  • RESULTS: We found that ppGalNAc-T6 (an enzyme usually restricted to normal placenta, trachea, brain, and pancreas) is expressed by colon cancer cell lines.

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  • (PMID = 27964510.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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30. Gitlitz BJ, Davies AM, Belani CP, Argiris A, Ramalingam SS, Hoffman PC, Koczwas M, Groshen SG, Gandara DR: A phase II study of the halichondrin B analog, E7389, in patients (pts) with advanced non-small cell lung cancer (NSCLC) previously treated with a taxane. A California Consortium/University of Pittsburgh/University of Chicago NCI/CTEP sponsored trial. J Clin Oncol; 2009 May 20;27(15_suppl):8056

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A phase II study of the halichondrin B analog, E7389, in patients (pts) with advanced non-small cell lung cancer (NSCLC) previously treated with a taxane. A California Consortium/University of Pittsburgh/University of Chicago NCI/CTEP sponsored trial.
  • METHODS: Eligible pts included: histologically confirmed advanced NSCLC, previous treatment with platinum-based therapy and a taxane, no more than 2 prior regimens, measurable disease, Zubrod performance status ≤ 2.
  • Pts were classified by taxane-sensitivity status: taxane sensitive (TS) (progression >90 days after taxane) or taxane resistant (TR) (progression during or ≤90 days after taxane).
  • TREATMENT: E7389 1.4 mg/m<sup>2</sup> intravenously over 1-2 minutes on day 1 and 8 of a 21 day schedule until disease progression or unacceptable toxicity.
  • There were 3 (15%) objective responses (7.2+, 8.5+, 10.6 mo) of 20 TS pts; and no response of 21 TR pts.
  • Stable disease rate was 60% and 24% in TS and TR pts. respectively.
  • Median progression free survival (PFS) is 6.3 mos TS pts.
  • Median number of cycles (range): TS 4 (1-14); TR 2 (1-7).
  • CONCLUSIONS: E7389 was well tolerated with encouraging objective response, PFS and disease control rate in the TS cohort.

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  • (PMID = 27962869.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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31. Ermacora P, Driol P, Russo S, Andreetta C, Pisa FE, Alessi B, Minisini AM, Mansutti M, Fasola G, Puglisi F: Predictors of tumor shrinkage after anthracycline-based preoperative chemotherapy. J Clin Oncol; 2009 May 20;27(15_suppl):e11531

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Aim of this study was to identify potential predictors of tumor shrinkage (TS) in a retrospective series of pts receiving preoperative anthracycline-based CT for operable BC.
  • Association between clinico-biological factors and clinico-radiological TS (by caliper and MRI) was assessed.
  • TS was calculated as the difference between the maximum tumor diameter at baseline and the maximum tumor diameter after preoperative CT/ the maximum tumor diameter at baseline x 100.
  • RESULTS: In univariate analysis, the following variables were associated with clinical TS: high MIB-1 [Odd ratio (OR) 2.6, p = 0.03], type of taxane (docetaxel vs paclitaxel: OR 0.3, p = 0.01) and number of cycles of CT (> 4 vs ≤ 4: OR 9.2, p < 0.0001).
  • In multivariate analysis, number of cycles of CT was the only independent predictor of clinical TS (OR = 9.2, p = 0.05).
  • In univariate analysis, the following variables were associated with MRI TS: high MIB-1 (OR 2.4, p = 0.06), tumor size (≥ 40 mm vs < 40 mm: OR 5.6, p 0 0.01), taxane CT (yes vs no: OR 4.3, p = 0.02) and number of cycles of CT (> 4 vs ≤ 4: OR 4.4, p = 0.002).
  • In multivariate analysis, high MIB-1 was the only independent predictor of MRI TS (OR = 3.7, p = 0.03).

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  • (PMID = 27964680.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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32. Smit EF, Socinski MA, Mullaney BP, Myrand SP, Powell E, Lorigan P, Kaiser C, Guba SC, Thatcher N: Pharmacogenomic analysis from a phase III study of pemetrexed plus carboplatin (PC) versus etoposide plus carboplatin (EC) in chemonaive patients (pts) with extensive-stage disease small cell lung cancer (ED-SCLC). J Clin Oncol; 2009 May 20;27(15_suppl):8030

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Pharmacogenomic analysis from a phase III study of pemetrexed plus carboplatin (PC) versus etoposide plus carboplatin (EC) in chemonaive patients (pts) with extensive-stage disease small cell lung cancer (ED-SCLC).
  • METHODS: Proteins studied by validated IHC on Benchmark XT were thymidylate synthase (TS), excision repair cross complementing-1 (ERCC1), glycinamide ribonucleotide formyl transferase (GARFT), and folylpolyglutamate synthetase (FPGS).
  • One hundred fifty-eight SNPs were genotyped for TS, FPGS, γ-glutamyl hydrolase (GGH), methylene tetrahydrofolate reductase (MTHFR), folate receptor- α (FR-α), solute carrier 19A1 (SLC19A1) and adjacent regions.
  • RESULTS: Of 408 tissue samples (from 908 enrolled pts) available for IHC, 336 samples were assayed for > 1 assay target.
  • The IHC analyses showed improved OS in the EC arm relative to the PC arm for patients with low TS<sub>nuclear</sub> (12.9 vs 7.5 month, p < 0.001, interaction p value = 0.017).
  • There was no differential treatment effect within the PC arm for low vs. high TS.
  • High vs low ERCC1 levels did not predict outcome following C exposure.
  • CONCLUSIONS: Pharmacogenomic analyses of tumor samples show that low TS<sub>nuclear</sub> expression correlates with OS in the EC arm.

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  • (PMID = 27962831.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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33. Kovar JM, Bui HX, Reynolds JP, Al-Ghawi H, Luo G, Abdel Karim N, Samaan S, Mehta A, Molloy M: A closer look at the number of lymph nodes examined in colorectal cancer: A VAMC experience. J Clin Oncol; 2009 May 20;27(15_suppl):e15117

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • : e15117 Background: Retrieval of 12 lymph nodes (LN) is a current benchmark in colorectal cancer (CRC) resections according to the National Quality Forum (NQF).
  • Series of multiple institutions contain variability in surgical and pathologic techniques for lymph node retrieval.
  • Statview and SAS software analyzed 1)Overall survival (OS) and association with finding >12LN; 2)Number of LN identified and impact on AJCC tumor stage (TS) and overall survival; 3)Number of LN and WHO tumor grade (TG) with OS; 4)The impact of number of positive LN on OS.
  • RESULTS: Our mean LN found (14.75) is higher than the 12 recommended by the NQF and is not significantly associated with OS regardless of AJCC TS(p=0.06).
  • The mean LN per TS was I=13.4(N=41)/II=16.3(N=56)/ III=14.3(N=38)/IV 14.2(N=22).
  • Number of LN identified was not statistically significant in predicting TS(p=0.42) or OS(p=0.24).
  • WHO TG is significantly associated to decreased OS, but only in AJCC TS II/III/IV and not stage I (Ip>0.05/IIp=0.008/ IIIp=0.01/IVp=0.025).
  • Higher number of positive LN was associated with lower OS (per each +LN, survival decreases by 0.15 months p=0.001) Conclusions: Contrary to multicenter studies, total number of LN identified does not impact AJCC TS or OS.
  • This suggests that the tumor biology is more indicative of OS rather than host response (reactive lymphoid tissue) to the tumor.

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  • (PMID = 27960844.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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34. Kerr D, Gray R, Quirke P, Watson D, Yothers G, Lavery IC, Lee M, O'Connell MJ, Shak S, Wolmark N, Genomic Health and QUASAR Colon Teams: A quantitative multigene RT-PCR assay for prediction of recurrence in stage II colon cancer: Selection of the genes in four large studies and results of the independent, prospectively designed QUASAR validation study. J Clin Oncol; 2009 May 20;27(15_suppl):4000

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • METHODS: Gene expression was quantitated by RT-PCR from 30 μm manually microdissected fixed paraffin-embedded primary colon cancer tissue.
  • Recurrence-free interval (RFI), disease-free survival (DFS), and overall survival (OS) were analyzed using Cox regression.
  • Multivariate analysis, in the context of stage, grade, nodes examined, and MSI status, yielded 18 genes (7 prognostic genes, 6 predictive genes, 5 reference genes) and separate prognostic recurrence score (RS) and predictive treatment score (TS) algorithms.
  • However, TS was not validated as a predictor of 5FU/LV benefit (interaction p=0.19).

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  • (PMID = 27961827.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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35. Martinez-Balibrea E, Abad A, Valladares M, Martinez-Villacampa M, Aranda E, Marcuello E, Benavides M, Martinez-Cardús A, Ginés A, Manzano JL, Spanish Group for the Treatment of Digestive Tumors: Pharmacogenetic analysis of TS and UGT1A polymorphisms predictive for response and toxicity in Spanish patients with advanced colorectal cancer treated with first-line irinotecan and 5-fluorouracil. J Clin Oncol; 2009 May 20;27(15_suppl):4066

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Pharmacogenetic analysis of TS and UGT1A polymorphisms predictive for response and toxicity in Spanish patients with advanced colorectal cancer treated with first-line irinotecan and 5-fluorouracil.
  • : 4066 Background: The possible role of uridine diphosphate-glucuronosyltransferase 1A (UGT1A) and Thymidylate Synthase (TS) gene polymorphisms in predicting toxicity and outcomes in irinotecan/ 5-Fluorouracil (5FU)-treated patients is still controversial.
  • The aim of this work was to determine whether UGT1A1, UGT1A7, and UGT1A9 as well as TS polymorphisms affect toxicities and/or outcomes of Spanish patients with advanced colorectal cancer (mCRC) Methods: A total of 149 patients with mCRC were treated either with weekly irinotecan plus high-dose 5FU (FUIRI) or biweekly irinotecan plus 5FU/Leucovorin (FOLFIRI) as first-line chemotherapy (Aranda E; Ann Oncol.
  • Chi-square test, Fisher's exact test and logistic regression were used to study the association of genotypes with toxicity and response.
  • RESULTS: According to TS 5'TRP genotypes, 79.3% of the 2R/2R patients responded to therapy while only 52.5% of 2R/3R or 3R/3R patients do so (HR=3.5; 95% CI=1.3- 9.1; p=0.009).
  • TS genotypes were not associated with toxicity.
  • TS 5'TRP genotypes are predictive of response to irinotecan/5FU first-line chemotherapy.

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  • (PMID = 27961607.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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36. Zarate RN, Rodriguez J, Bandres E, Bitarte N, Ramirez N, Ponz M, Chopitea A, Viudez A, Garcia-Foncillas J: Predictive value of Ile105Val polymorphism of the gluthatione-S-transferase P1 in patients with metastatic colorectal cancer (m CRC) treated with the triplet combination of irinotecan, oxaliplatin, and capecitabine. J Clin Oncol; 2009 May 20;27(15_suppl):2544

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • METHODS: The following genetic polymorphisms were analysed: glutathione S-transferase (GSTP1-Ile105Val, GSTT1 and GSTM1 deletion), TYMS (TS-5´UTR 2R/3R; TS-5´G/C; TS-3´UTR 6-bp deletion), MTHFR 1298A>C, UGT1A1, ERCC1, XPD.
  • Univariate analysis (Fisher´s exact test for response; log-rank test for TTP and OS) was performed to examine associations between polymorphisms and clinical outcome.
  • M/F: 50/22. Risk according to Köhne classification was low (52.8% of pts), intermediate (26.4%) and high (8.3%).
  • Heterozygous and homozygous GSTP-105Val showed a significant superior response rate (80%) compared to only 40% in pts harbouring the GSTP1-105Ile/Ile genotype (p = 0.008, Fisher´s exact test).

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  • (PMID = 27961864.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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37. Ludovini V, Crinò L, Pistola L, Floriani I, Meacci M, Chiari R, Garavaglia D, Tofanetti FR, Mare M, Giuffrida D, Gori S: Effect of genetic polymorphisms on toxicity and survival in advanced non-small cell lung cancer (NSCLC) patients (pts) treated with carboplatin (CBDCA) and pemetrexed disodium regimen. J Clin Oncol; 2009 May 20;27(15_suppl):e19028

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Effect of genetic polymorphisms on toxicity and survival in advanced non-small cell lung cancer (NSCLC) patients (pts) treated with carboplatin (CBDCA) and pemetrexed disodium regimen.
  • We investigated the influence of ten single nucleotide polymorphisms (SNPs) of 7 genes (P53 Arg72Pro (G/C); XRCC3 Thr241Met (C/T); XPD Lys751Gln (A/C); ERCC1 Asn118Asn (C/T); GARFT C/G, GARFT C/T, DHFR C/G, DHFR A/G, TS 5'UTR, TS 3'UTR involved with metabolism of CBDCA and Alimta regimen in pts with advanced NSCLC.
  • Polymorphisms were detected with TaqMan-probe based assays using the 7300 Real-Time PCR system (Applied Biosystems, Foster City, CA) or PCR followed by RFLP.
  • Overall response rate was 38.6%, stable disease 38.6% and disease progression 21.1%.
  • The median progression free survival (PFS) was 7.4 months, the median survival time not reached.
  • No associations were found between the analyzed polymorphisms and toxicity considered either as the maximum observed grade, or as sum of each toxicity pattern grade, probably due to low number of events observed for toxicity within this data set.
  • Further studies are warranted to validate this finding.

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  • (PMID = 27962578.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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38. Scagliotti G, Monica V, Ceppi P, Righi L, Cambieri A, Volante M, Novello S, Cappelletto E, Papotti M: Baseline thymidylate synthase expression according to histological subtypes of non-small cell lung cancer. J Clin Oncol; 2009 May 20;27(15_suppl):7521

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Baseline thymidylate synthase expression according to histological subtypes of non-small cell lung cancer.
  • : 7521 Background: In non-small cell lung cancer (NSCLC) baseline thymidilate synthase (TS) levels are higher in squamous cell carcinoma (SCC) compared to adenocarcinoma (AC) and randomized clinical trials have shown a selective benefit for patients with non-squamous histology treated with pemetrexed, a TS-inhibiting agent.
  • TS expression in undifferentiated large cell carcinoma (LCC) is unknown.
  • METHODS: TS expression at both mRNA (using tissue microdissection and qRT-PCR) and protein (through immunohistochemistry, IHC) levels was tested in 34 surgically resected LCC (stage I=20,II=6,IIIa=8) and compared with TS expression in surgical cases of SCC (n= 31) and AC (n=40).
  • In addition other comparisons were made: a) TS protein expression with Ki-67 index;.
  • b) TS mRNA and E2F1 transcription factor mRNA;.
  • c) in all histotypes TS protein level with desmocollin-3 (DSC-3) immunostaining, a marker of squamous cell differentiation.
  • TS expression level was assessed in a group of patients (n=22) with cytological diagnosis of NSCLC-NOS (not otherwise specified) and compared with TS data in tissue specimens obtained through subsequent bronchial biopsy or surgical resection.
  • RESULTS: Significantly higher median TS levels in LCC compared to AC (p<0.001 for both mRNA and protein values) and SCC compared to AC (p=0.002 mRNA, p<0.001 protein) were detected.
  • A strong correlation between TS mRNA and protein levels were found (p<0.001) in SCC and AC, but not in LCC.
  • TS and both Ki-67 and E2F1 were significantly correlated in AC and SCC (p=0.003 and p=0.05, respectively), but in LCC no correlation was found.
  • In LCC, significantly higher TS levels were observed in DSC3-positive compared to DSC3-negative tumors (p=0.02).
  • A significant correlation between TS IHC scores in matched cytological and corresponding tissue specimens was observed (p<0.001).
  • CONCLUSIONS: This study demonstrates and confirms the: a) differential expression of TS among the NSCLC histotypes;.
  • b) lack of DSC-3 immunoreactivity in LCC is associated with lower TS expression;.
  • c) assessment of TS by IHC in cytological specimens correlates with the corresponding tissue TS expression.

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  • (PMID = 27963288.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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39. Lustberg MB, Nuovo J, Thomas JP, Monk PJ 3rd, Kim S, Villalona-Calero M, Bekaii-Saab T: Biomodulation of capecitabine by weekly paclitaxel and carboplatin in patients with advanced solid tumor malignancies: A dose-escalating phase I study. J Clin Oncol; 2009 May 20;27(15_suppl):2569

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • : 2569 Background: A principal determinant of the therapeutic index with capecitabine-based treatment is the grade of thymidine phosphorylase (TP) activity in malignant tissue.
  • On the basis of the time-dependency and transiency for this upregulation we performed a phase I study of capecitabine in combination with weekly paclitaxel and carboplatin (CTX).
  • Paraffin-embedded tissue was evaluated for expression of TP, thymidylate synthase and dihydropyrimidine dehydrogenase by immunohistochemistry.
  • RESULTS: 32 patients from Ohio State University (OSU) were enrolled.
  • There were 10 confirmed responses [4 CR (esophagus, stomach, unknown primary and ampullary); 6 PRs (Pancreas (3), unknown primary, anal and esophagus] and stabilization of disease > 3 months in 12 patients.
  • In normal tissue, there was no difference in expression levels of both TS and TP.
  • On the other hand, in cancer tissue, TP levels seem to correlate with response whereas TS did not.

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  • (PMID = 27961879.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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40. Sobrero AF, Bennicelli E, Pessino A, Guglielmi A, Mammoliti S, Caprioni F, Fornarini G, Comandini D, Sciallero S, Ansaldi F: Phase II trial of imatinib, bevacizumab and cetuximab plus modified FOLFOX-6 in advanced untreated colorectal cancer. J Clin Oncol; 2009 May 20;27(15_suppl):e15030

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Due to the cost and potential toxicity of the combination, the endpoint for this phase II study was very ambitious: at least 25% of complete response (medically or surgically achieved), lasting a minimum of 12 months in advanced untreated colorectal cancer patients with clearly unresectable disease.
  • RESULTS: Of 26 patients (16 with 1 site of disease), 17 completed the first 4 months of treatment according to the protocol, while 9 had to discontinue one biologic drug due to side effects (5 cetuximab, 3 imatinib and 1 bevacizumab).
  • No evidence of macroscopic disease after the entire treatment plan was obtained in 13/26 patients: 12 surgical and 1 medical CR.
  • Seven/13 were disease free at 6 months, but only 3 were still disease free at 12 months.
  • ERCC1, ERCC2/XDP, GSTP1,TS,EGF, COX2, CYCLIN D, FCgR polymorphisms and K-RAS mutations were evaluated on all 26 patients, but no correlations were found with clinical outcome.

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  • (PMID = 27964491.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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41. Chan SL, Mo FK, Koh J, Hui EP, Yu SC, Lai PB, Chan HL, Chan VT, Chan AT, Yeo W, Mok T: Predictors of treatment outcomes in early stage hepatocellular carcinoma (HCC) detected in a surveillance program. J Clin Oncol; 2009 May 20;27(15_suppl):4584

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • In 2005, our group reported low surgical resection rates despite detection of small sized tumors in a prospective surveillance cohort of 1018 HBV carriers (Mok TS et al.
  • In current study, we aim to identify predictive factors for treatment outcomes in HCC detected from our surveillance program.
  • After median follow-up of 9.95 years, we confirmed diagnosis of 105 HCC.
  • Median age = 51 (range: 40-69); M:F = 82:23; Child's A and B cirrhosis = 38:67.

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  • (PMID = 27963096.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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42. Hasegawa Y, Hanai N, Terada A, Ozawa T, Goto M: Orotate phosphoribosyl transferase and XPA expressions as predictive biomarkers for combined chemotherapy with 5-fluorouracil and cisplatin in oro- and hypopharyngeal cancers. J Clin Oncol; 2009 May 20;27(15_suppl):6084

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • : 6084 Background: The main purpose of the present study was to find predictive biomarkers that can be routinely used for the response to chemotherapy in head and neck squamous cell carcinomas.
  • METHODS: Sixty-four tumor specimens from patients undergoing radical treatment for squamous cell carcinomas of the oro- and hypopharynx in stage II, III, or IV, were included in the present study.
  • Using biopsy specimens, we analyzed their gene expression profiles with the following 25 markers, which we thought were likely predictors of the response to anti-cancer agents: TS, DPD, OPRT, TP, COX2, MDR1, MRP1, VEGF, EGFR, HER2, PIK3CA, PTEN, p53, Rb1, Bcl2, BclX, BAX, GSTπ, ERCC1, XPA, E2F1, ENT1, Rev3, β-tubulin, and Survivin.
  • These mRNA expressions were quantified by real-time reverse transcription polymerase chain reaction (real-time RT-PCR) assay.
  • Clinical markers, such as T and N factor, gender and age were added, and logistic regression analysis and likelihood ratio test were conducted.

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  • (PMID = 27961950.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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43. Goekkurt E, Al-Batran S, Obermann L, Pauligk C, Homann N, Hartmann JT, Moehler M, Hofheinz RD, Gerhard E, Stoehlmacher J: Pharmacogenetics of peripheral neuropathy in elderly patients (&gt;65 years) with advanced gastric cancer receiving oxaliplatin-based chemotherapy within a randomized phase II study. J Clin Oncol; 2009 May 20;27(15_suppl):e14515

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • 130 pts were evaluable for PN at time of analyses.
  • Genotypes of TS and MTHFR could be identified as independent risk factors for grade 3 PNP by multivariate analyses.
  • Pts carrying a TS promoter genotype known to be associated with low TS expression (2R/2R, 2R/3RC, 3RC/3RC) were at higher risk for developing grade 3 PNP compared to pts without one of these genotypes (OR 3.0 [95%CI 1.27; 7.06], p=0.01).
  • CONCLUSIONS: Polymorphisms of TS and MTHFR might be associated with grade 3 PNP in AGC pts receiving oxaliplatin based chemotherapy.

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  • (PMID = 27963519.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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44. Fakih MG, Pendyala L, Egorin MJ, Fetterly G, Espinoza-Delgado I, Ross M, Phelan J, Kramer Z, Yirinec B, Diasio R: A phase I clinical trial of vorinostat in combination with sFULV2 in patients with refractory solid tumors. J Clin Oncol; 2009 May 20;27(15_suppl):4083

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • : 4083 Background: Thymidylate synthase (TS) over-expression is associated with 5-FU resistance.
  • Pre-clinical studies demonstrate that vorinostat down-regulates intra-tumor TS in a dose-dependent fashion and augments 5-FU antitumor activity in xenograft models.
  • METHODS: Vorinostat was escalated in a standard 3 x 3 design in combination with a fixed dose of 5-FU and LV (simplified de Gramont regimen, sFULV2).
  • Dose-limiting toxicities (DLT), consisting of fatigue and hand-and-foot syndrome (H&F), were seen in 2 of 3 pts at the 2000 mg DL.
  • An expanded MTD cohort is accruing to investigate 5-FU-vorinostat PK interaction and intra-tumor TS down-regulation. (This work was supported by a grant from CTEP and the ACS.

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  • (PMID = 27961640.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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45. Chang H, Han S, Oh D, Im S, Kim T, Bang Y: Combination chemotherapy of irinotecan with fluoropyrimidine in taxane, anthracycline, and fluoropyrimidine-pretreated metastatic breast cancer. J Clin Oncol; 2009 May 20;27(15_suppl):e12003

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The median time from diagnosis of metastatic breast cancer to the initiation of IF therapy was 34 months (range: 12-97 months).
  • The used regimens were: FOLFIRI (18 patients), TS-1/ irinotecan (6), capecitabine/irinotecan (1).
  • Stable disease was shown in 29.2% and 70.8% was PD, that is disease control rate was 29.2% (95% CI:10-45%).
  • The median duration of disease control was 3.9 months (95% CI 3.7-4.2, range 2.4-11).
  • And the major Gr 3/4 non-hematologc toxicity was: diarrhea (4%), hand-foot syndrome (0%), fatigue (0%).

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  • (PMID = 27964261.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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46. Weekes C, Nallapareddy S, Jimeno A, Hidalgo M, Laheru D, Rudek MA, Baker S, Redlinger C, Murphy K, Messersmith W: Single nucleotide polymorphisms of TSER, ATM, RecQ1 genes association with survival in pancrease cancer. J Clin Oncol; 2009 May 20;27(15_suppl):e14590

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • TS expression is regulated by a polymorphism in the TSER and has been shown that pts with S/S variant have high response rate and increased toxicity in colon cancer pts.
  • Grade 3 hand foot syndrome, diarrhea and vomiting were dose limiting toxicities.
  • The pt who received 3 cycles came off study due to progressive disease and the other 3 pts came of the study due to toxicities.
  • TSER polymorphism was correlated to OS and only S/S variant was significant with a trend towards improved OS by log rank test and Kaplan Meier plot.

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  • (PMID = 27963738.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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47. Oh D, Lee K, Lee K, Sohn C, Park Y, Zang D, Ryoo H, Bang Y: A phase II trial of erlotinib in combination with gemcitabine and capecitabine in previously untreated metastatic/recurrent pancreatic cancer: Combined analysis with translational research. J Clin Oncol; 2009 May 20;27(15_suppl):4607

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Tumor tissue and blood sample was analyzed for the translational research.
  • Twenty two pts (51.2%) had stable disease.
  • Overall disease control rate was 83.7%.
  • EGFR, pEGFR, TS, TP, DPD was overexpressed in 77.4%, 17.1%, 82.4%, 53.6% and 61.3% of tumor tissues respectively.

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  • (PMID = 27964140.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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48. Mehra R, Sherman E, Ruth K, Litwin S, Sylvester J, Tuttle H, Burtness B, Cohen RB, Langer C: Phase II study of pemetrexed (P) and gemcitabine (G) in patients with advanced head and neck cancer (SCCHN). J Clin Oncol; 2009 May 20;27(15_suppl):6052

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • : 6052 Background: Unresectable/metastatic squamous cell cancer of the head and neck (SCCHN) has a poor prognosis despite standard therapy with cisplatin.
  • One prior therapy for recurrent disease was allowed.
  • Median age was 64 years (range, 49-82); 10 males; 13 smokers (including 4 current smokers).
  • 15 patients previously received definitive therapy with surgery and/or chemo-RT, and 9 had prior systemic therapy for recurrent/metastatic disease.
  • Reasons for treatment discontinuation included progressive disease in 15 patients and decreased PS in 1.
  • Further study of this regimen should be considered in patients enriched for TS and RRM1 status.

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  • (PMID = 27961917.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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49. Blitzer JB, Shbeeb I, Neoman A, Azaren K, Paulsen M, Evans S, Nagourney R: Functional profiling in stage IV colorectal cancer: A phase II trial of individualized therapy. J Clin Oncol; 2009 May 20;27(15_suppl):e15124

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • ERCC1, TS, kRas mutations but the comparatively small number of known cellular analytes has limited their broad application.
  • METHODS: To address the complexity and redundancy of cell-death signaling pathways, we applied Ex Vivo Analysis of Programmed Cell Death (EVA/PCD) (Nagourney, R.
  • Accrual continues with current TTP ranges from 1.2-17.3 months and OS from 2.5 to 30 months.
  • By examining drug-induced cell death events in native-state microspheroids, this platform has the unique capacity to capture stromal, vascular and inflammatory cell interactions with tumor cells, now known to be crucial for clinical response prediction.

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  • (PMID = 27960832.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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50. Kuramochi H, Hayashi K, Nakajima G, Kamikozuru H, Yamamoto M: Evaluation of thymidylate synthase and ERCC1 mRNA levels as predictive markers in colorectal cancer patients treated with S-1 and oxaliplatin. J Clin Oncol; 2009 May 20;27(15_suppl):e15071

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The mechanism of action of platinum compounds such as oxaliplatin is to bind to a DNA molecule in the form of a platinum-DNA-adduct.
  • Thymidylate synthase (TS) and dehydropyrimidine dehydrogenase (DPD) are key enzymes of 5-FU metabolism and are well known to be associated with a response to 5-FU-based therapy.
  • METHODS: Twenty-one colorectal cancer patients (male:female = 7:14; median age, 65) treated with a combination of oxaliplatin and S-1 as a first-line therapy were analyzed for ERCC1 codon 118 polymorphism and the mRNA expression levels of TS, ERCC1, and DPD.
  • The mRNA expression levels were measured using real-time RT-PCR, and the polymorphism was analyzed using the allelic discrimination method together with real-time PCR.
  • Patients with both high TS and ERCC1 mRNA levels showed a significantly lower response rate than the others (25% vs. 67%, p=0.02).
  • CONCLUSIONS: The mRNA expression levels of TS and ERCC1 appear to be useful markers for the treatment of S-1 and oxaliplatin.

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  • (PMID = 27964567.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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51. Lee H, Hwang Y, Han J, Choi J, Kang S, Jeong S, Ann M, Oh Y, Kim J, Kim C: Expression of excision repair cross-complementation group 1 protein and outcome in patients with nasopharyngeal cancer. J Clin Oncol; 2009 May 20;27(15_suppl):6085

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • : 6085 Background: We evaluated the prognostic significance of thymidylate synthase (TS), and Excision Repair Cross-Complementation Group 1 protein (ERCC1) in patients (pts) with nasopharyngeal cancer (NPC) treated with concurrent chemoradiotherapy (CCRT).
  • METHODS: Pretreatment tumor biopsy specimens from 41 pts with locally advanced NPC were analyzed for TS and ERCC1 expression by immunohistochemistry.
  • High expression of TS and ERCC1 was observed in 21 (51%) and 25 (60%) pts, respectively.
  • In univariate analysis, high expression of ERCC1 was associated with poor OS (5-year: 73% versus 35%; p = 0.005), while high expression of TS was not correlated with pts outcome (p = 0.867).

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  • (PMID = 27961951.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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52. Kim H, Seo B, Kim J, Oh S, Lee S, Kim S, Kwon H: Comprehensive analysis of Excision repair complementation group 1, Glutathione S-transferase, Thymidylate synthase, and Uridine diphosphate glucuronosyltransferase 1A1 polymorphisms predictive for treatment outcome in patients with advanced gastric cancer treated with FOLFOX or FOLFIRI. J Clin Oncol; 2009 May 20;27(15_suppl):e15580

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • We assessed whether single nucleotide polymorphisms (SNPs) in ERCC1, GST, TS, and UGT1A1predicted overall survival in gastric cancer patients receiving FOLFOX and/or FOLFIRI chemotherapy.
  • The PCR- restriction fragment length polymorphism (RFLP) method was applied to detect the known variant sites of ERCC1, GST, TS, and UGT1A1.
  • Only the GSTM1 positive genotype showed a significantly better time to progression (P=0.023).
  • But significant genotype variation of TS, GST and ERCC1,which assumed to affect to activity of oxaliplatin was not observed to RR, toxicity, and overall survival.
  • Low expression type (2R/2R, 2R/3C, and 3C/3C) of TS was associated with high incidence of grade ≥3 neutropenia.
  • CONCLUSIONS: In this study, GSTM1 positive genotype showed a significantly better time to progression in the advanced gastric cancer treated with FOLFOX.
  • Low expression type (2R/2R, 2R/3C, and 3C/3C) of TS was associated with high incidence of grade ≥3 neutropenia in the advanced gastric cancer treated with FOLFIRI.

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  • (PMID = 27962361.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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53. Romkes M, Feinstein TM, Zhong S, Buch S, Gibson MK, Skovira K, Argiris A: TS and MTHFR gene polymorphisms in patients (pts) with recurrent or metastatic squamous cell carcinoma of the head or neck (SCCHN) treated with pemetrexed (P) and bevacizumab (B). J Clin Oncol; 2009 May 20;27(15_suppl):e17011

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] TS and MTHFR gene polymorphisms in patients (pts) with recurrent or metastatic squamous cell carcinoma of the head or neck (SCCHN) treated with pemetrexed (P) and bevacizumab (B).
  • : e17011 Background: P inhibits multiple enzymes in folate metabolism.
  • We examined polymorphisms in thymidylate synthase (TS) and methylenetetrahydrofolate reductase (MTHFR) in patients with SCCHN treated in a phase II clinical trial with P and B (ASCO 2008; A6069).
  • Primary endpoint was time to progression (TTP).
  • Polymorphisms examined were MTHFR (C677T, A1298C and G1793A) and TS (TS2R3R, TSG2RG and TSmut6).
  • The TS promoter repeat and promoter SNP polymorphisms and the 3' untranslated region 6 bp deletion polymorphism were determined using published methods to detect PCR product size and RFLP-PCR assays respectively.
  • For the MTHFR polymorphism C677T, there was a trend towards decreased disease control rate (DCR) (CR/PR/SD) (p = 0.058, Jonckheere-Terpstra trend test) and worse TTP (p = 0.04) transitioning from variant CC to CT to TT; comparing TT genotype versus CT and CC combined, pts with TT had inferior DCR (p = 0.03) and TTP (p = 0.0003); homozygotes with TT had a median TTP of 2.6 months (mo) 95% CI (1.4, NA) versus 5.6 mo (4.2, 11.4) for pts with CT or CC variants.
  • The MTHFR G1793A and TS polymorphisms did not impact DCR, TTP or overall survival.

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  • (PMID = 27961740.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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54. Mizutani Y, Li Y, Shiraishi T, Nakamura T, Mikami K, Okihara K, Takaha N, Ukimura O, Kawauchi A, Miki T: Significance of the expression of thymidylate synthase in prostate cancer. J Clin Oncol; 2009 May 20;27(15_suppl):e16163

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • : e16163 Background: Thymidylate synthase ( TS ) is an important enzyme in de novo DNA synthesis pathway.
  • 5-Fluorouracil ( 5-FU ), an anticancer chemotherapeutic agent used clinically against a variety of cancers including prostate cancer, inhibits DNA synthesis by binding TS.
  • In the present study, we examined TS expression in prostate cancer and investigated its prognostic significance.
  • METHODS: Fifty-two prostate cancer tissue specimens were obtained from patients who underwent radical prostatectomy for prostate cancer without neoadjuvant hormonal therapy.
  • Forty-eight prostate cancer tissue specimens were also obtained from patients who underwent radical prostatectomy for prostate cancer with neoadjuvant hormonal therapy.
  • We examined prostate cancer tissue and normal prostate tissue for TS expression by immunohistochemistry.
  • RESULTS: TS was expressed at higher levels in prostate cancer without neoadjuvant hormonal therapy, compared with normal prostate.TS expression in stage T3 prostate cancer was higher than that in stage T2 prostate cancer.
  • In addition, the level of TS expression in Gleason score 7 or greater prostate cancer was higher than that in Gleason score less than 7 prostate cancer.
  • Patients with prostate cancer with negative TS expression without neoadjuvant hormonal therapy had a longer postoperative recurrence-free rate than those with positive expression in the 5 year follow-up.
  • In addition, patients with Gleason score less than 7 prostate cancer with negative TS expression had a much longer postoperative recurrence-free rate than those with positive expression in the 5-year follow-up.
  • TS expression was significantly decreased in prostate cancer patients who received neoadjuvant hormonal therapy, especially stage T2 prostate cancer patients.
  • CONCLUSIONS: The current study has demonstrated for the first time that TS expression may be a prognostic parameterr for prostate cancer patients undergoing radical prostatectomy.

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  • (PMID = 27963439.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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55. Selvaggi G, Righi L, Ceppi P, Bacillo E, Billè A, Pandiscia S, Ardissone F, Scagliotti GV, Papotti M: Relationship of thymidylate synthase levels to outcome of malignant pleural mesothelioma patients treated with pemetrexed-based chemotherapy. J Clin Oncol; 2009 May 20;27(15_suppl):7508

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • : 7508 Background: Pemetrexed has shown activity in malignant pleural mesothelioma (MPM) but scanty data are available on the expression of thymidylate synthase (TS), its most important molecular target.
  • METHODS: From a database of 75 non-surgical, chemotherapy-naive MPM patients from our Institution in the period 2004-2008, 50 (male/female: 37/13, median age: 65 years) met the selection criteria i.e. epithelial type, availability of thoracoscopic tissue and outcome data.
  • Retrospectively TS protein expression levels were evaluated by immunohistochemistry and quantified with H-score method.
  • In addition, mRNA extraction was performed in 23 micro-dissected tissues and TS relative levels quantified by RT-PCR.
  • Survival probability was assessed by Kaplan-Meier method and results compared by log-rank test.
  • RESULTS: Thirty-two patients had progressive disease and 24 had died at the time of the analysis.
  • Median time to progression (TTP) and median survival time (MST) were 11.6 and 20.9 months, respectively.
  • Median TS H-score value was 90 (5-240).
  • Patients with high TS H-score (4th quartile) had a significantly shorter MST (13.3 vs 21.1 months, p<0.01) and showed a trend for shorter TTP (8.3 vs 11.9 months, p=0.07).
  • Median TS mRNA level was 1.88 (1-3.7 unit-less ratio) and a significant correlation between mRNA and protein expression (RS=0.67, p<0.0001) was found.
  • Patients with high TS mRNA levels (4th quartile) had significantly shorter TTP (8.7 vs 14.7 months, p=0.019) and MST (11.7 vs 24.7, p=0.018).
  • Multivariate analysis for survival indicated that TS protein levels were an independent prognostic factor (HR=2.17; CI 1.04-4.54; p=0.038).
  • CONCLUSIONS: TS (protein and mRNA) levels predict outcome of epithelial MPM patients treated with pemetrexed-based chemotherapy.
  • TS quantification, if confirmed in larger prospective studies, could be used to select those patients more likely to respond to chemotherapy.

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  • (PMID = 27963478.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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56. Lyczkowski DA, Conant KD, Pulsifer MB, Jarrett DY, Grant PE, Kwiatkowski DJ, Thiele EA: Intrafamilial phenotypic variability in tuberous sclerosis complex. J Child Neurol; 2007 Dec;22(12):1348-55
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Intrafamilial phenotypic variability in tuberous sclerosis complex.
  • Clinical manifestations were retrospectively assessed in 5 families with tuberous sclerosis complex, including 1 pair of monozygotic twins.
  • Interfamilial variation in tuber count was significantly larger than intrafamilial variation.
  • Severity of epilepsy and cognitive profiles varied both between and within families, particularly between the monozygotic twins, and IQ was inversely related to tuber count.
  • Although the monozygotic twins displayed similar physical manifestations of tuberous sclerosis complex (renal and cardiac hamartomas), they differed markedly in neurocognitive profiles.
  • Phenotypic variation within these families may be explained largely as a function of the randomness of second-hit events that cause hamartomas in tuberous sclerosis complex or by as-yet-unidentified genetic modifiers.
  • Familial variation in tuberous sclerosis complex phenotype has important implications for genetic counseling.
  • [MeSH-major] Family. Glioma / diagnosis. Phenotype. Tuberous Sclerosis / genetics
  • [MeSH-minor] Adolescent. Adult. Aged, 80 and over. Child. Child, Preschool. Cognition. Diseases in Twins / diagnosis. Diseases in Twins / genetics. Epilepsy / diagnosis. Epilepsy / genetics. Female. Genetic Variation. Humans. Infant. Intelligence / genetics. Magnetic Resonance Imaging. Male. Mental Disorders / diagnosis. Mental Disorders / genetics. Middle Aged. Neuropsychological Tests. Observer Variation. Pedigree. Penetrance. Retrospective Studies. Severity of Illness Index. Twins, Monozygotic / genetics

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  • (PMID = 18174550.001).
  • [ISSN] 0883-0738
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Canada
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57. Milunsky A, Ito M, Maher TA, Flynn M, Milunsky JM: Prenatal molecular diagnosis of tuberous sclerosis complex. Am J Obstet Gynecol; 2009 Mar;200(3):321.e1-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Prenatal molecular diagnosis of tuberous sclerosis complex.
  • OBJECTIVE: The objective of the study was to report experience with prenatal molecular diagnosis of tuberous sclerosis complex (TSC).
  • STUDY DESIGN: Sequential deoxyribonucleic acid (DNA) studies were performed on amniotic fluid cells and chorionic villi from 50 pregnant women at risk for having a child with TSC.
  • Mutations were determined by gene sequencing and deletion/duplication analysis of the 2 TSC genes.
  • In 4 of 18 cases, a mutation was detected in the fetus for the first time despite a parent known to have TSC.
  • CONCLUSION: The value and utility of prenatal diagnosis of TSC by DNA analysis was demonstrated by the results in this series of 50 pregnancies in women at risk of having affected offspring.
  • A family history of TSC or detection of fetal cardiac rhabdomyoma should prompt genetic evaluation and counseling of parents and the option of prenatal diagnosis.
  • [MeSH-major] Genetic Testing. Prenatal Diagnosis / methods. Tuberous Sclerosis / genetics. Tumor Suppressor Proteins / genetics
  • [MeSH-minor] Family Health. Female. Genetic Counseling. Heart Neoplasms / diagnosis. Heart Neoplasms / epidemiology. Heart Neoplasms / genetics. Humans. Polymorphism, Genetic. Pregnancy. Rhabdomyoma / diagnosis. Rhabdomyoma / epidemiology. Rhabdomyoma / genetics. Risk Factors

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  • (PMID = 19254590.001).
  • [ISSN] 1097-6868
  • [Journal-full-title] American journal of obstetrics and gynecology
  • [ISO-abbreviation] Am. J. Obstet. Gynecol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Tumor Suppressor Proteins; 0 / tuberous sclerosis complex 1 protein; 4JG2LF96VF / tuberous sclerosis complex 2 protein
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58. Winterkorn EB, Pulsifer MB, Thiele EA: Cognitive prognosis of patients with tuberous sclerosis complex. Neurology; 2007 Jan 2;68(1):62-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cognitive prognosis of patients with tuberous sclerosis complex.
  • To assess cognitive outcome in patients with tuberous sclerosis complex (TSC) and identify predictive risk factors, we reviewed records of 107 patients who underwent comprehensive neuropsychiatric evaluation.
  • Fifty-seven percent of patients with TSC had normal-range IQ/developmental quotient (DQ).
  • In TSC, IQ/DQ is bimodally distributed, and more than half of individuals are in the normal range.
  • [MeSH-major] Cognition Disorders / diagnosis. Tuberous Sclerosis / diagnosis

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  • (PMID = 17200495.001).
  • [ISSN] 1526-632X
  • [Journal-full-title] Neurology
  • [ISO-abbreviation] Neurology
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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59. Chorianopoulos D, Stratakos G: Lymphangioleiomyomatosis and tuberous sclerosis complex. Lung; 2008 Jul-Aug;186(4):197-207
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Lymphangioleiomyomatosis and tuberous sclerosis complex.
  • Lymphangioleiomyomatosis (LAM) is a rare multisystemic disease of women of child-bearing age and affects mainly the lungs, promoting cystic destruction of lung parenchyma or leading to abdominal tumor formation (e.g., angiomyolipomas, lymphangioleiomyomas).
  • LAM can arise sporadically or in association with tuberous sclerosis complex (TSC), an autosomal inherited syndrome characterized by hamartoma-like tumor growth and pathologic features that are distinct from manifestations of pulmonary LAM.
  • A substantial body of evidence has now been gathered suggesting that the two diseases share a common genetic origin.
  • TSC is caused by mutations in two genes, TSC1 on chromosome 9q34 and TSC2 on 16p13.
  • Sporadic LAM is correlated with a mutation in the TSC2 gene and tuberin appears to play a central role in the pathogenesis of the disease.
  • A TSC2 loss or mutation leads to disruption of the tuberin-hamartin heteromer and dysregulation of S6K1 activation leading to aberrant cell proliferation seen in LAM disease.
  • The extremely diverse clinical and radiologic features of the disease and the complex therapeutic approach are reviewed in detail.
  • As long as newer therapeutic agents do not change this picture, lung transplantation remains the last hope for patients with respiratory failure at the advanced stage of the disease.
  • [MeSH-major] Lung. Lymphangioleiomyomatosis. Tuberous Sclerosis
  • [MeSH-minor] Disease Progression. Genetic Predisposition to Disease. Humans. Matrix Metalloproteinases / metabolism. Risk Factors. Tissue Inhibitor of Metalloproteinases / metabolism. Treatment Outcome


60. Pulsifer MB, Winterkorn EB, Thiele EA: Psychological profile of adults with tuberous sclerosis complex. Epilepsy Behav; 2007 May;10(3):402-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Psychological profile of adults with tuberous sclerosis complex.
  • The Symptom Checklist-90-Revised, a standardized self-report measure of psychological symptoms, was administered to 42 adults with tuberous sclerosis complex (TSC).
  • Approximately 45% reported high overall psychological distress, most commonly involving interpersonal sensitivity, psychoticism, depression, and obsessive-compulsive symptoms.
  • Symptoms were related to number of organ systems affected by TSC and, in some cases, to seizure history, but not to genotype, IQ, education, severity of epilepsy, or use of anticonvulsant or psychiatric medication.
  • [MeSH-major] Mental Disorders / psychology. Psychological Tests / statistics & numerical data. Tuberous Sclerosis / psychology
  • [MeSH-minor] Adult. Analysis of Variance. Female. Humans. Intelligence. Intelligence Tests / statistics & numerical data. Male. Middle Aged. Retrospective Studies


61. Guerra MP, Cavalleri F, Migone N, Lugli L, Delalande O, Cavazzuti GB, Ferrari F: Intractable epilepsy in hemimegalencephaly and tuberous sclerosis complex. J Child Neurol; 2007 Jan;22(1):80-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Intractable epilepsy in hemimegalencephaly and tuberous sclerosis complex.
  • Hemimegalencephaly is a rare brain malformation consisting of the enlargement of 1 hemisphere, often associated with abnormal cortical gyration, thick cortex, large neurons, and increased astrocytes.
  • Hemiparesis, intractable epilepsy, and developmental delay are the typical clinical manifestations.
  • Tuberous Sclerosis Complex is an autosomal dominant disorder affecting about 1 in 6000 live births; the number of spontaneous mutations is remarkable.
  • These lesions most frequently involve the brain, skin, kidneys, eyes, and heart.
  • The rare association of hemimegalencephaly and tuberous sclerosis complex has been reported in a few cases.
  • The authors report the case of a 4-year-old boy with left hemimegalencephaly, tuberous sclerosis complex genetically confirmed, and intractable epilepsy originating from the nonhemimegalencephalic hemisphere.
  • [MeSH-major] Epilepsy / etiology. Functional Laterality / physiology. Nervous System Malformations / complications. Tuberous Sclerosis / complications
  • [MeSH-minor] Child, Preschool. Disease Progression. Electroencephalography / methods. Humans. Magnetic Resonance Imaging. Male


62. Tatli M, Guzel A: Bilateral temporal arachnoid cysts associated with tuberous sclerosis complex. J Child Neurol; 2007 Jun;22(6):775-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Bilateral temporal arachnoid cysts associated with tuberous sclerosis complex.
  • The association between tuberous sclerosis complex and intracranial abnormalities such as hemimegalencephaly, schizencephaly, intracranial arterial aneurysms, and corpus callosum agenesis/dysplasia has been reported in the recent literature.
  • However, the association between tuberous sclerosis complex and bilateral temporal arachnoid cysts has not been reported.
  • The neuro-radiological findings are consistent with tuberous sclerosis complex associated with bitemporal arachnoid cysts.
  • To the authors' knowledge, this is the first reported case of tuberous sclerosis complex associated with bilateral arachnoid cysts of the temporal region.
  • [MeSH-major] Arachnoid Cysts / complications. Tuberous Sclerosis / complications

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  • (PMID = 17641270.001).
  • [ISSN] 0883-0738
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Canada
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63. Chou IJ, Lin KL, Wong AM, Wang HS, Chou ML, Hung PC, Hsieh MY, Chang MY: Neuroimaging correlation with neurological severity in tuberous sclerosis complex. Eur J Paediatr Neurol; 2008 Mar;12(2):108-12
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  • [Title] Neuroimaging correlation with neurological severity in tuberous sclerosis complex.
  • OBJECTIVE: To delineate the relationship between neurological severity and neuroimage of lesion load including specific topography of supratentorial cortical tubers and white matter lesions in tuberous sclerosis complex (TSC).
  • METHODS: Twenty-five TSC patients more than 2 years of age who underwent conventional and fluid-attenuated inversion recovery sequence (FLAIR) magnetic resonance imaging (MRI) were retrospectively studied.
  • A neuroimaging scoring system was designed to evaluate the load of the cerebrum lesions with respect to location and size of cortical tubers and white matter lesions based on FLAIR MRI.
  • CONCLUSIONS: The brain lesion load was positively correlated with neurological prognosis in TSC patients.
  • Patients with larger lesion load in the left temporal lobe may be correlated with increased neurological severity in right-handed patients with TSC.
  • [MeSH-major] Brain / pathology. Nervous System / pathology. Supratentorial Neoplasms / pathology. Tuberous Sclerosis / pathology

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  • (PMID = 17869556.001).
  • [ISSN] 1090-3798
  • [Journal-full-title] European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
  • [ISO-abbreviation] Eur. J. Paediatr. Neurol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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64. Szczepańska M, Szprynger K, Winiarski G, Głowacki J, Zajecki W: [Renal complication in tuberous sclerosis complex]. Wiad Lek; 2007;60(9-10):483-8
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  • [Title] [Renal complication in tuberous sclerosis complex].
  • Authors present the review of current literature on the subject of nephrological complications in tuberous sclerosis complex (TSC) on the basis of two ease reports of children with familial TSC.
  • In 18-years-old girl the features of polycystic kidney disease with end-stage renal failure, epilepsy, mental retardation, calcifications of structures in central nervous system and skin abnormalities coexist.
  • In the girl during the one month of observation asymptomatic acute bleeding to a cyst and under the renal capsule occurred.
  • [MeSH-major] Hemorrhage / etiology. Hemorrhage / radiography. Polycystic Kidney Diseases / radiography. Tuberous Sclerosis / complications
  • [MeSH-minor] Adolescent. Brain / radiography. Child. Female. Humans. Kidney / radiography. Kidney Diseases / etiology. Kidney Diseases / surgery. Male. Tomography, X-Ray Computed

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  • (PMID = 18350728.001).
  • [ISSN] 0043-5147
  • [Journal-full-title] Wiadomości lekarskie (Warsaw, Poland : 1960)
  • [ISO-abbreviation] Wiad. Lek.
  • [Language] pol
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Poland
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65. Wu JY, Sutherling WW, Koh S, Salamon N, Jonas R, Yudovin S, Sankar R, Shields WD, Mathern GW: Magnetic source imaging localizes epileptogenic zone in children with tuberous sclerosis complex. Neurology; 2006 Apr 25;66(8):1270-2
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  • [Title] Magnetic source imaging localizes epileptogenic zone in children with tuberous sclerosis complex.
  • The authors assessed whether magnetoencephalography/magnetic source imaging (MEG/MSI) identified epileptogenic zones in patients with tuberous sclerosis complex (TSC).
  • In six TSC children with focal seizures, ictal video-EEG predicted the region of resection with 56% sensitivity, 80% specificity, and 77% accuracy (p = 0.02), whereas interictal MEG/MSI fared better (100%, 94%, and 95%, respectively; p < 0.0001).
  • Interictal MEG/MSI seems to identify epileptogenic zones more accurately in children with TSC and focal intractable epilepsy.
  • [MeSH-major] Epilepsy / diagnosis. Epilepsy / pathology. Tuberous Sclerosis / diagnosis. Tuberous Sclerosis / pathology
  • [MeSH-minor] Child. Child, Preschool. Electroencephalography. Fluorodeoxyglucose F18. Follow-Up Studies. Humans. Infant. Magnetic Resonance Imaging. Magnetoencephalography. Positron-Emission Tomography. Sensitivity and Specificity. Videotape Recording

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  • (PMID = 16636252.001).
  • [ISSN] 1526-632X
  • [Journal-full-title] Neurology
  • [ISO-abbreviation] Neurology
  • [Language] eng
  • [Grant] United States / NINDS NIH HHS / NS / K23 NS051637; United States / NINDS NIH HHS / NS / P01 NS002808; United States / NINDS NIH HHS / NS / R01 NS020806; United States / NINDS NIH HHS / NS / R01 NS038992; United States / NINDS NIH HHS / NS / R01 NS046516
  • [Publication-type] Comparative Study; Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0Z5B2CJX4D / Fluorodeoxyglucose F18
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66. Siroky BJ, Czyzyk-Krzeska MF, Bissler JJ: Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms? Nat Clin Pract Nephrol; 2009 Mar;5(3):143-56
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  • [Title] Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms?
  • Tuberous sclerosis complex and von Hippel-Lindau disease are distinct autosomal dominant tumor suppressor syndromes that can exhibit similar renal phenotypes and seem to share some signaling pathway components.
  • Similarities exist in the current clinical management of, and the newly identified potential therapeutic approaches for, these conditions.
  • This Review summarizes the pathophysiologic and therapeutic overlap between tuberous sclerosis complex and von Hippel-Lindau disease and highlights the results of recent drug trials in these settings.
  • [MeSH-major] Kidney Diseases, Cystic / genetics. Kidney Neoplasms / genetics. Tuberous Sclerosis / genetics. von Hippel-Lindau Disease / genetics
  • [MeSH-minor] Adenoma, Oxyphilic / genetics. Angiomyolipoma / genetics. Carcinoma, Renal Cell / genetics. Cell Proliferation. Humans. Hypoxia-Inducible Factor 1 / metabolism. Signal Transduction. Tumor Suppressor Proteins / metabolism

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  • (PMID = 19240728.001).
  • [ISSN] 1745-8331
  • [Journal-full-title] Nature clinical practice. Nephrology
  • [ISO-abbreviation] Nat Clin Pract Nephrol
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA122346; United States / NIDDK NIH HHS / DK / DK061458; United States / PHS HHS / / DODPR064135; United States / PHS HHS / / DODTS050008
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Hypoxia-Inducible Factor 1; 0 / Tumor Suppressor Proteins
  • [Number-of-references] 148
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67. Valeyrie-Allanore L, Wolkenstein P: [Phacomatosis]. Rev Prat; 2008 Apr 15;58(7):717-24

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  • [Title] [Phacomatosis].
  • Phacomatosis include a group of hereditary disorders mainly characterized by abnormalities of ectodermal origin.
  • Among these diseases, we will more precisely put the stress on neurofibromatosis and tuberous sclerosis complex, which corresponds to autosomal dominant disorders, with well defined clinical presentation and pathophysiology.
  • In the absence of curative treatment, these diseases require life-long multidisciplinary management, adapted to age leading to earlier diagnosis and treatment of complications.
  • [MeSH-major] Neurocutaneous Syndromes / diagnosis

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  • (PMID = 18546640.001).
  • [ISSN] 0035-2640
  • [Journal-full-title] La Revue du praticien
  • [ISO-abbreviation] Rev Prat
  • [Language] fre
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] France
  • [Number-of-references] 19
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68. Goh S, Thiele EA: Anorexia nervosa in a child with tuberous sclerosis complex. J Child Neurol; 2005 May;20(5):457-60
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  • [Title] Anorexia nervosa in a child with tuberous sclerosis complex.
  • Psychiatric disorders pose a significant burden to the quality of life of individuals with tuberous sclerosis complex and their caregivers.
  • The relationship between the location and distribution of brain abnormalities in tuberous sclerosis complex and specific neuropsychiatric disorders is largely unknown.
  • We present the first case in the literature of a child with tuberous sclerosis complex and anorexia nervosa and discuss the relevance of electroencephalography, magnetic resonance imaging, and neuropsychologic testing.
  • To understand psychiatric disturbances in tuberous sclerosis complex, we must consider each of the following factors: cerebral pathology, seizure history, cognitive impairment, psychosocial stressors, and medications.
  • [MeSH-major] Anorexia Nervosa / etiology. Tuberous Sclerosis / psychology

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  • (PMID = 15968936.001).
  • [ISSN] 0883-0738
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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69. D'Argenzio L, Koch G, Bombardieri R, Mori F, Moavero R, Centonze D, Curatolo P: Abnormal parieto-motor connectivity in Tuberous Sclerosis Complex. Epilepsy Res; 2009 Nov;87(1):102-5
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  • [Title] Abnormal parieto-motor connectivity in Tuberous Sclerosis Complex.
  • Abnormal connectivity might be involved in the pathophysiology of Tuberous Sclerosis Complex (TSC).
  • We used twin-coil Transcranial Magnetic Stimulation protocol to investigate connectivity between posterior parietal cortex (PPC) and motor cortex (M1) in TSC patients.
  • In comparison with healthy subjects and TSC patients treated with antiepileptic drugs, non-medicated TSC patients exhibited abnormal excitability of PPC-M1 connection.
  • Such altered connectivity might play a role in TSC epileptic phenotype.
  • [MeSH-major] Evoked Potentials, Motor / physiology. Motor Cortex / physiopathology. Parietal Lobe / physiopathology. Tuberous Sclerosis / physiopathology
  • [MeSH-minor] Adolescent. Adult. Analysis of Variance. Brain Mapping. Electric Stimulation. Electromyography. Female. Humans. Male. Middle Aged. Neural Pathways / physiopathology. Signal Processing, Computer-Assisted. Transcranial Magnetic Stimulation

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  • [Copyright] 2009 Elsevier B.V. All rights reserved.
  • (PMID = 19713078.001).
  • [ISSN] 1872-6844
  • [Journal-full-title] Epilepsy research
  • [ISO-abbreviation] Epilepsy Res.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
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70. Habib SL: Tuberous sclerosis complex and DNA repair. Adv Exp Med Biol; 2010;685:84-94
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  • [Title] Tuberous sclerosis complex and DNA repair.
  • Tuberous sclerosis complex (TSC) is an autosomal dominant disorder in humans characterized by the development of hamartomas in several organs, including renal angiomyolipomas, cardiac rhabdomyomas and subependymal giant cell astrocytomas.
  • TSC causes disabling neurologic disorders, including epilepsy, mental retardation and autism.
  • Brain lesions, including subependymal and subcortical hamartomas, have also been reported in TSC patients.
  • TSC is associated with hamartomas and renal cell carcinoma (RCC) as well as sporadic tumors in TSC patient.
  • Renal angiomyolipomas associated with TSC tend to be larger, bilateral, multifocal and present at a younger age compared with sporadic forms.
  • Tuberous sclerosis complex of 2 genes, TSC2 encodes a protein called tuberin that normally exists in an active state and forms a heterodimeric complex with hamartin, the protein encoded by the TSC1.
  • The majority of renal cell tumors observed in the Eker rat originates from renal proximal tubules and are histologically similar to renal cell carcinoma in humans.
  • OGG1 gene is found somatically mutated in some cancer cells and is highly polymorphic among human cancers.
  • Moreover, knockout mice in OGG1 developed spontaneously adenoma and carcinoma.
  • We recently show that the constitutive expression of OGG1 in heterozygous (TSC2+/-) Eker rat and in angiomyolipomas kidney tissue from human is 2-3fold less than in kidney from wild-type rats and control human subjects.
  • [MeSH-major] Chromosome Disorders. DNA Repair-Deficiency Disorders. Kidney Neoplasms. Tuberous Sclerosis. Tumor Suppressor Proteins

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  • (PMID = 20687497.001).
  • [ISSN] 0065-2598
  • [Journal-full-title] Advances in experimental medicine and biology
  • [ISO-abbreviation] Adv. Exp. Med. Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DNA, Neoplasm; 0 / Multiprotein Complexes; 0 / Tumor Suppressor Proteins; 0 / tuberous sclerosis complex 1 protein; 4JG2LF96VF / tuberous sclerosis complex 2 protein; EC 3.2.2.- / DNA Glycosylases; EC 3.2.2.- / OGG1 protein, rat; EC 3.2.2.- / Ogg1 protein, mouse; EC 3.2.2.- / oxoguanine glycosylase 1, human
  • [Number-of-references] 70
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71. Kobayashi M, Nakano K, Nukui A, Goto K, Morita T: Bilateral massive renal angiomyolipoma concurrent with oncocytoma in tuberous sclerosis complex associated with pulmonary lymphangioleiomyomatosis. Urology; 2008 Oct;72(4):948.e7-9
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  • [Title] Bilateral massive renal angiomyolipoma concurrent with oncocytoma in tuberous sclerosis complex associated with pulmonary lymphangioleiomyomatosis.
  • We describe a patient with tuberous sclerosis complex and massive bilateral renal angiomyolipomas (AMLs) in association with pulmonary lymphangioleiomatosis, who experienced hemorrhagic shock because of rupture of the left renal AML.
  • This case also represents a rare, but significant, overlap between renal AML, pulmonary lymphangioleiomatosis, and tuberous sclerosis complex.
  • [MeSH-major] Adenoma, Oxyphilic / complications. Angiomyolipoma / complications. Kidney Neoplasms / complications. Lung Neoplasms / complications. Lymphangioleiomyomatosis / complications. Neoplasms, Multiple Primary / complications. Tuberous Sclerosis / complications


72. Sekiguchi G: [Dental enamel pitting in tuberous sclerosis complex]. No To Hattatsu; 2005 Nov;37(6):512-6
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  • [Title] [Dental enamel pitting in tuberous sclerosis complex].
  • We studied pitting of the dental enamel in cases of tuberous sclerosis complex (TSC), by staining defect sites.
  • Many pits were found in the enamel of the TSC patients, especially on the labial surface of the incisors.
  • Although the pathogenesis is unclear, pits of this type have been reported in TSC patients, but in the author's experience, have never been observed in cases of other diseases.
  • On the basis of the results in this study and those previously published, we conclude that dental enamel pitting is a finding which suggests the diagnosis of TSC.
  • [MeSH-major] Dental Enamel Hypoplasia / complications. Tuberous Sclerosis / complications

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  • (PMID = 16296356.001).
  • [ISSN] 0029-0831
  • [Journal-full-title] No to hattatsu. Brain and development
  • [ISO-abbreviation] No To Hattatsu
  • [Language] jpn
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Japan
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73. Curatolo P, Bombardieri R, Cerminara C: Current management for epilepsy in tuberous sclerosis complex. Curr Opin Neurol; 2006 Apr;19(2):119-23
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  • [Title] Current management for epilepsy in tuberous sclerosis complex.
  • PURPOSE OF REVIEW: This article reviews the most significant advances in the field of epilepsy associated with tuberous sclerosis complex, with emphasis on new advances in the knowledge of the pathophysiological mechanisms of epileptogenicity, progress in identifying the epileptogenic zone, and the rationale for surgical management in individuals with intractable seizures.
  • RECENT FINDINGS: Advances in our understanding of the mechanisms and genetics underlying infantile spasms and catastrophic epilepsy associated with tuberous sclerosis complex may facilitate more effective interventions.
  • Early effective seizure control could significantly reduce the adverse developmental effects of chronic epilepsy in tuberous sclerosis.
  • The factors that influence the intractability of epilepsy associated with tuberous sclerosis complex remain poorly understood.
  • Epilepsy surgery is often associated with significant improvement of the neurologic outcome.
  • SUMMARY: Epilepsy in tuberous sclerosis seems to arise from the interaction between multiple areas, all of which have increased excitability and reduced inhibition.
  • New evidence suggests that it is possible to noninvasively identify children with tuberous sclerosis who are highly likely to become seizure free following surgical treatment.
  • [MeSH-major] Epilepsy / therapy. Tuberous Sclerosis / complications
  • [MeSH-minor] Animals. Anticonvulsants / therapeutic use. Brain Injuries / complications. Cognition Disorders / etiology. Humans. Neurosurgery / methods. Neurosurgery / trends. Vigabatrin / therapeutic use

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  • (PMID = 16538083.001).
  • [ISSN] 1350-7540
  • [Journal-full-title] Current opinion in neurology
  • [ISO-abbreviation] Curr. Opin. Neurol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Anticonvulsants; GR120KRT6K / Vigabatrin
  • [Number-of-references] 31
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74. Hung PC, Wang HS, Chou ML, Wong AM: Tuberous sclerosis complex with multiple intracranial aneurysms in an infant. Pediatr Neurol; 2008 Nov;39(5):365-7
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  • [Title] Tuberous sclerosis complex with multiple intracranial aneurysms in an infant.
  • Tuberous sclerosis complex is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of signs and clinical features.
  • Occlusive vascular disease and aneurysms of the cerebral and visceral arteries were described in these patients.
  • We report on an 8-month-old boy who manifested tuberous sclerosis complex with multiple intracranial aneurysms involving the internal carotid artery and middle cerebral artery.
  • The unusual features of our case favor the concepts of the presence of an arterial dysplasia in tuberous sclerosis complex, and of developmental defects as the cause of intracranial aneurysms.
  • [MeSH-major] Intracranial Aneurysm / complications. Intracranial Aneurysm / pathology. Tuberous Sclerosis / complications. Tuberous Sclerosis / pathology
  • [MeSH-minor] Brain / pathology. Carotid Artery, Internal / pathology. Cerebral Angiography. Humans. Infant. Magnetic Resonance Imaging. Male. Middle Cerebral Artery / pathology


75. Jeste SS, Sahin M, Bolton P, Ploubidis GB, Humphrey A: Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol; 2008 May;23(5):520-5
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  • [Title] Characterization of autism in young children with tuberous sclerosis complex.
  • Both cognitive impairment and autism are common in the tuberous sclerosis complex, but the relationship between the 2 diagnoses has not been formally explored.
  • The authors evaluated 20 clinic-referred children with tuberous sclerosis complex at ages 18, 24, 36, and 60 months and classified them as autism, autism spectrum disorder, or normal on the basis of the Autism Diagnostic Observation Schedule.
  • The authors conclude that clinic-referred children with tuberous sclerosis complex and autism are at considerable risk for cognitive impairment.
  • [MeSH-major] Autistic Disorder / complications. Tuberous Sclerosis / complications

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  • (PMID = 18160549.001).
  • [ISSN] 0883-0738
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Canada
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76. Crino PB, Aronica E, Baltuch G, Nathanson KL: Biallelic TSC gene inactivation in tuberous sclerosis complex. Neurology; 2010 May 25;74(21):1716-23
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  • [Title] Biallelic TSC gene inactivation in tuberous sclerosis complex.
  • BACKGROUND: A pivotal developmental question is whether tubers in tuberous sclerosis complex (TSC) form by germline and somatic TSC1 or TSC2 gene mutations.
  • Giant cells (GCs) in tubers exhibit S6 phosphorylation, suggesting cell-specific loss of TSC gene function.
  • METHODS: TSC1 and TSC2 gene mutations were investigated in DNA extracted from tuber sections (n = 6) and microdissected P-S6-labeled GCs by sequencing and loss of heterozygosity (LOH) analysis to define germline and somatic mutations.
  • LOH was not detected in whole tuber sections or microdissected P-S6-labeled GCs.
  • In 5 specimens, a somatic mutation was identified in single GCs that was not detected in whole tuber sections or leukocyte DNA.
  • AML = angiomyolipoma; DN = dysplastic neuron; FFPE = formalin fixed, paraffin embedded; GC = giant cell; H-E = hematoxylin and eosin; LOH = loss of heterozygosity; TSC = tuberous sclerosis complex.

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  • (PMID = 20498439.001).
  • [ISSN] 1526-632X
  • [Journal-full-title] Neurology
  • [ISO-abbreviation] Neurology
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / 5R01CA114478-02; United States / NCI NIH HHS / CA / 5R01CA118871-02; United States / NINDS NIH HHS / NS / 5R01NS045021-07; United States / NINDS NIH HHS / NS / 5R01NS048557-02
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / RNA, Messenger; 0 / Ribosomal Protein S6; 0 / Tumor Suppressor Proteins; 0 / tuberous sclerosis complex 1 protein; 4JG2LF96VF / tuberous sclerosis complex 2 protein
  • [Other-IDs] NLM/ PMC2882213
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77. Jóźwiak S, Kotulska K, Kasprzyk-Obara J, Domańska-Pakieła D, Tomyn-Drabik M, Roberts P, Kwiatkowski D: Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics; 2006 Oct;118(4):e1146-51
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  • [Title] Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex.
  • OBJECTIVE: Tuberous sclerosis complex is an autosomal dominant disorder in which hamartomas occur in several organs.
  • Cardiac rhabdomyomas, the most common heart tumors of childhood, are well known to be associated with tuberous sclerosis complex.
  • Our aim for this study was to characterize the incidence, progression, and clinical consequences of tuberous sclerosis complex-associated rhabdomyomas in a large cohort of patients with TSC1 and TSC2 genotypes.
  • PATIENTS AND METHODS: Patients (154) with tuberous sclerosis complex were evaluated, including clinical assessment, electrocardiography, and echocardiography.
  • However, in 6 (3.9%) of them (aged 10-15 years), cardiac rhabdomyomas were noted to either grow (3 cases) or appear de novo (3 cases), such that the frequency of cardiac rhabdomyomas in adolescents was 6 (54%) of 11.
  • CONCLUSIONS: Cardiac rhabdomyomas are seen in the majority of young children with tuberous sclerosis complex.
  • However, during puberty, cardiac rhabdomyomas may enlarge or appear de novo; thus, attention should be paid to potential clinical signs and monitoring by echocardiography should be performed.
  • [MeSH-major] Hamartoma / genetics. Hamartoma / pathology. Heart Neoplasms / genetics. Heart Neoplasms / pathology. Tuberous Sclerosis / genetics. Tuberous Sclerosis / pathology. Tumor Suppressor Proteins / genetics
  • [MeSH-minor] Adolescent. Child. Child, Preschool. Cohort Studies. DNA Mutational Analysis. Disease Progression. Female. Genotype. Heart Diseases / etiology. Humans. Infant. Infant, Newborn. Male. Prognosis. Puberty

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  • (PMID = 16940165.001).
  • [ISSN] 1098-4275
  • [Journal-full-title] Pediatrics
  • [ISO-abbreviation] Pediatrics
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Tumor Suppressor Proteins; 0 / tuberous sclerosis complex 1 protein; 4JG2LF96VF / tuberous sclerosis complex 2 protein
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78. Ess KC, Kamp CA, Tu BP, Gutmann DH: Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex. Neurology; 2005 Apr 26;64(8):1446-9
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  • [Title] Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex.
  • Children with tuberous sclerosis complex (TSC) harbor developmental brain abnormalities (cortical tubers) and low-grade tumors (subependymal giant cell astrocytomas [SEGAs]).
  • Using gene expression profiling to identify neuroglial differentiation markers in Tsc1 conditional knockout mice, the authors demonstrate that giant cells of SEGAs aberrantly express similar neuroglial differentiation markers as do cortical tubers.
  • These results suggest that both tubers and SEGAs result from related defects in progenitor cell differentiation during brain development.
  • [MeSH-major] Astrocytoma / genetics. Astrocytoma / metabolism. Brain Neoplasms / genetics. Brain Neoplasms / metabolism. Cell Differentiation / genetics. Tuberous Sclerosis / genetics. Tuberous Sclerosis / metabolism
  • [MeSH-minor] Adolescent. Animals. Cell Lineage / genetics. Child. Disease Models, Animal. Female. Gene Expression Profiling. Gene Expression Regulation, Developmental / genetics. Genetic Markers / genetics. Humans. Infant. Male. Mice. Mice, Knockout. Nerve Tissue Proteins / genetics. Neurons / metabolism. Stem Cells / metabolism. Tumor Suppressor Proteins / genetics


79. Wu JY, Salamon N, Kirsch HE, Mantle MM, Nagarajan SS, Kurelowech L, Aung MH, Sankar R, Shields WD, Mathern GW: Noninvasive testing, early surgery, and seizure freedom in tuberous sclerosis complex. Neurology; 2010 Feb 2;74(5):392-8
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  • [Title] Noninvasive testing, early surgery, and seizure freedom in tuberous sclerosis complex.
  • BACKGROUND: The unambiguous identification of the epileptogenic tubers in individuals with tuberous sclerosis complex (TSC) can be challenging.
  • We assessed whether magnetic source imaging (MSI) and coregistration of (18)fluorodeoxyglucose PET (FDG-PET) with MRI could improve the identification of the epileptogenic regions noninvasively in children with TSC.
  • METHODS: In addition to standard presurgical evaluation, 28 children with intractable epilepsy from TSC referred from 2000 to 2007 had MSI and FDG-PET/MRI coregistration without extraoperative intracranial EEG.
  • RESULTS: Based on the concordance of test results, 18 patients with TSC (64%) underwent surgical resection, with the final resection zone confirmed by intraoperative electrocorticography.
  • CONCLUSIONS: Magnetic source imaging and (18)fluorodeoxyglucose PET/MRI coregistration noninvasively localized the epileptogenic zones in many children with intractable epilepsy from tuberous sclerosis complex (TSC), with 67% seizure free postoperatively.
  • These findings support the concept that early epilepsy surgery is associated with seizure freedom in children with TSC and intractable epilepsy.

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  • [Cites] Epilepsia. 2000 Sep;41(9):1206-13 [10999561.001]
  • [Cites] Epilepsia. 2002 Mar;43(3):219-27 [11906505.001]
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  • (PMID = 20124204.001).
  • [ISSN] 1526-632X
  • [Journal-full-title] Neurology
  • [ISO-abbreviation] Neurology
  • [Language] ENG
  • [Grant] United States / NINDS NIH HHS / NS / R01 NS038992; United States / NINDS NIH HHS / NS / NS046516; United States / NIMH NIH HHS / MH / MH079933; United States / NIDCD NIH HHS / DC / R01 DC004855-07S1; United States / NINDS NIH HHS / NS / K23 NS051637; United States / NINDS NIH HHS / NS / K23 NS047100; United States / NINDS NIH HHS / NS / 5U01NS053998; United States / NINDS NIH HHS / NS / NS045911; United States / NIDCD NIH HHS / DC / R01 DC006435; United States / NIDCD NIH HHS / DC / R01DC006435; United States / NIDCD NIH HHS / DC / DC004855-07; United States / NIMH NIH HHS / MH / R34 MH089299; United States / NINDS NIH HHS / NS / P01 NS002808; United States / NINDS NIH HHS / NS / R01 NS 38992; United States / NIDCD NIH HHS / DC / DC004855-07S1; United States / NINDS NIH HHS / NS / R01 NS046516; United States / NINDS NIH HHS / NS / NS059505; United States / NIDCD NIH HHS / DC / R01 DC004855-07; United States / NIDCD NIH HHS / DC / R01 DC006435-05; United States / NIDCD NIH HHS / DC / R01DC004855; United States / NIDCD NIH HHS / DC / R01 DC004855
  • [Publication-type] Clinical Trial; Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Radiopharmaceuticals; 0Z5B2CJX4D / Fluorodeoxyglucose F18
  • [Other-IDs] NLM/ PMC2816007
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80. Kotulska K, Larysz-Brysz M, Grajkowska W, Jóźwiak J, Włodarski P, Sahin M, Lewin-Kowalik J, Domańska-Pakieła D, Jóźwiak S: Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities. Pediatr Dev Pathol; 2009 Mar-Apr;12(2):89-95
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  • [Title] Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities.
  • Cardiac rhabdomyoma (CR) is the most common heart tumor in children and is usually associated with tuberous sclerosis complex (TSC).
  • Tuberous sclerosis complex is a genetic disorder caused by a mutation in either of 2 genes (TSC1 or TSC2) and characterized by the formation of hamartomas in multiple organs.
  • The 2 TSC proteins, hamartin and tuberin, antagonize the mammalian target of rapamycin (mTOR) signaling pathway, thus regulating cell growth and proliferation.
  • Recently, some trials treating TSC with the mTOR inhibitor rapamycin have been published; however, the impact of such treatment on heart tumors is not known.
  • This is the first study showing mTOR pathway dysregulation and an increased expression of proapoptotic Bax protein in CRs associated with TSC.
  • [MeSH-major] Apoptosis. Heart Neoplasms / pathology. Protein Kinases / metabolism. Rhabdomyoma / pathology. Tuberous Sclerosis / pathology

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  • (PMID = 17990907.001).
  • [ISSN] 1093-5266
  • [Journal-full-title] Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
  • [ISO-abbreviation] Pediatr. Dev. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; EC 2.7.- / Protein Kinases; EC 2.7.1.1 / MTOR protein, human; EC 2.7.1.1 / TOR Serine-Threonine Kinases
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81. D'Agati E, Moavero R, Cerminara C, Curatolo P: Attention-deficit hyperactivity disorder (ADHD) and tuberous sclerosis complex. J Child Neurol; 2009 Oct;24(10):1282-7
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  • [Title] Attention-deficit hyperactivity disorder (ADHD) and tuberous sclerosis complex.
  • The neurobiological basis of attention-deficit hyperactivity disorder (ADHD) in tuberous sclerosis complex is still largely unknown.
  • Cortical tubers may disrupt several brain networks that control different types of attention.
  • Frontal lobe dysfunction due to seizures or epileptiform electroencephalographic discharges may perturb the development of brain systems that underpin attentional and hyperactive functions during a critical early stage of brain maturation.
  • Comorbidity of attention-deficit hyperactivity disorder (ADHD) with mental retardation and autism spectrum disorders is frequent in children with tuberous sclerosis.
  • Attention-deficit hyperactivity disorder (ADHD) may also reflect a direct effect of the abnormal genetic program.
  • Treatment of children with tuberous sclerosis complex with combined symptoms of attention-deficit hyperactivity disorder (ADHD) and epilepsy may represent a challenge for clinicians, because antiepileptic therapy and drugs used to treat attention-deficit hyperactivity disorder (ADHD) may aggravate the clinical picture of each other.
  • [MeSH-major] Attention Deficit Disorder with Hyperactivity / epidemiology. Attention Deficit Disorder with Hyperactivity / physiopathology. Tuberous Sclerosis / epidemiology. Tuberous Sclerosis / physiopathology
  • [MeSH-minor] Animals. Brain / physiopathology. Comorbidity. Humans


82. Sparling JD, Hong CH, Brahim JS, Moss J, Darling TN: Oral findings in 58 adults with tuberous sclerosis complex. J Am Acad Dermatol; 2007 May;56(5):786-90
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Oral findings in 58 adults with tuberous sclerosis complex.
  • BACKGROUND: Gingival fibromas and dental pitting are among the diagnostic criteria for tuberous sclerosis complex (TSC).
  • OBJECTIVE: Our goal was to document the oral findings in 58 adult patients with TSC.
  • In all, 56 patients (97%) had multiple dental enamel pits.
  • LIMITATIONS: This case series comprised predominantly adult women with TSC and lymphangioleiomyomatosis.
  • CONCLUSIONS: Oral fibromas in TSC are mostly, but not exclusively, gingival.
  • The multiple oral papules in TSC may appear similar to those observed in Cowden syndrome, Birt-Hogg-Dubé syndrome, and rarely in multiple endocrine neoplasia type 1.

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  • (PMID = 17239986.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA100907-03; United States / NCI NIH HHS / CA / CA100907-01A1; United States / Intramural NIH HHS / / Z01 HL002541-12; United States / NCI NIH HHS / CA / CA100907-03; United States / NCI NIH HHS / CA / R01 CA100907-02; United States / NCI NIH HHS / CA / R01 CA100907-01A1; United States / NCI NIH HHS / CA / CA100907-02; United States / NCI NIH HHS / CA / R01 CA100907
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Other-IDs] NLM/ NIHMS234564; NLM/ PMC2947382
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83. Yuan CD, Chang XL, Wu YQ, Liu Q, Gao M, Xiao FL, Zhou FS, Yang S, Liu JJ, Zhang XJ: [Analysis of gene mutations in two patients with tuberous sclerosis complex]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2007 Apr;29(2):205-8
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  • [Title] [Analysis of gene mutations in two patients with tuberous sclerosis complex].
  • OBJECTIVE: To analyze the mutation of TSC gene in two sporadic patients with tuberous sclerosis complex (TSC).
  • CONCLUSION: These two mutations are the cause of the clinical phenotypes of these two sporadic patients with TSC.
  • [MeSH-major] Tuberous Sclerosis / genetics. Tumor Suppressor Proteins / genetics

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  • (PMID = 17536269.001).
  • [ISSN] 1000-503X
  • [Journal-full-title] Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
  • [ISO-abbreviation] Zhongguo Yi Xue Ke Xue Yuan Xue Bao
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Tumor Suppressor Proteins; 0 / tuberous sclerosis complex 1 protein; 4JG2LF96VF / tuberous sclerosis complex 2 protein
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84. Misago N, Narisawa Y: Fibrofolliculoma in a patient with tuberous sclerosis complex. Clin Exp Dermatol; 2009 Dec;34(8):892-4
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  • [Title] Fibrofolliculoma in a patient with tuberous sclerosis complex.
  • The occurrence of multiple fibrofolliculomas or trichodiscomas on the face and neck is clinically characteristic of Birt-Hogg-Dubé (BHD) syndrome, whereas the development of multiple fibrous papules or angiofibromas on the face is an important clinical sign of tuberous sclerosis complex (TSC).
  • It has been suggested that a relationship exists between BHD syndrome and TSC and there was a case of BHD syndrome reported recently, in which multiple fibrous papules or angiofibroma lesions were observed.
  • This report describes the first case, to our knowledge, of fibrofolliculoma in a patient with TSC.
  • [MeSH-major] Fibroma / pathology. Hair Follicle / pathology. Skin Neoplasms / pathology. Tuberous Sclerosis / pathology
  • [MeSH-minor] Facial Neoplasms / pathology. Humans. Male. Middle Aged. Syndrome

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  • (PMID = 19196303.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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85. Teutonico F, Mai R, Devinsky O, Lo Russo G, Weiner HL, Borrelli P, Balottin U, Veggiotti P: Epilepsy surgery in tuberous sclerosis complex: early predictive elements and outcome. Childs Nerv Syst; 2008 Dec;24(12):1437-45
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  • [Title] Epilepsy surgery in tuberous sclerosis complex: early predictive elements and outcome.
  • AIM: The aim of the study was to evaluate the surgical treatment of epilepsy and detection of possible early surgery predictive elements in patients with tuberous sclerosis complex (TSC).
  • MATERIALS AND METHODS: Forty-two TSC patients with epilepsy were selected and divided into two main groups: definite and fruste forms.
  • Definite forms were divided into different groups: patients with pharmacologically controlled epilepsy, patients with pharmacoresistant epilepsy excluded from surgery after an extensive presurgical assessment, and patients with a pharmacoresistant epilepsy who underwent surgery.
  • We compared the definite TSC groups to identify elements that predict surgical candidacy.
  • CONCLUSION: We found several factors that could predict a surgical intervention even if identification of patients with refractory epilepsy who can benefit from surgery is an evolving process.
  • [MeSH-major] Epilepsy / surgery. Tuberous Sclerosis / complications


86. Li S, Takeuchi F, Wang JA, Fan Q, Komurasaki T, Billings EM, Pacheco-Rodriguez G, Moss J, Darling TN: Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas. Proc Natl Acad Sci U S A; 2008 Mar 4;105(9):3539-44
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  • [Title] Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas.
  • Patients with tuberous sclerosis complex (TSC) develop hamartomas containing biallelic inactivating mutations in either TSC1 or TSC2, resulting in mammalian target of rapamycin (mTOR) activation.
  • Hamartomas overgrow epithelial and mesenchymal cells in TSC skin.
  • The pathogenetic mechanisms for these changes had not been investigated, and the existence or location of cells with biallelic mutations ("two-hit" cells) was unclear.
  • We compared TSC skin hamartomas (angiofibromas and periungual fibromas) with normal-appearing skin of the same patient, and we observed more proliferation and mTOR activation in hamartoma epidermis.
  • Two-hit cells were not detected in the epidermis.
  • Fibroblast-like cells in the dermis, however, exhibited allelic deletion of TSC2, in both touch preparations of fresh tumor samples and cells grown from TSC skin tumors, suggesting that increased epidermal proliferation and mTOR activation were not caused by second-hit mutations in the keratinocytes but by mesenchymal-epithelial interactions.
  • Gene expression arrays, used to identify potential paracrine factors released by mesenchymal cells, revealed more epiregulin mRNA in fibroblast-like angiofibroma and periungual fibroma cells than in fibroblasts from normal-appearing skin of the same patient.
  • Elevation of epiregulin mRNA was confirmed with real-time PCR, and increased amounts of epiregulin protein were demonstrated with immunoprecipitation.
  • Epiregulin stimulated keratinocyte proliferation and phosphorylation of ribosomal protein S6 in vitro.
  • These results suggest that hamartomatous TSC skin tumors are induced by paracrine factors released by two-hit cells in the dermis and that proliferation with mTOR activation of the overlying epidermis is an effect of epiregulin.

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  • (PMID = 18292222.001).
  • [ISSN] 1091-6490
  • [Journal-full-title] Proceedings of the National Academy of Sciences of the United States of America
  • [ISO-abbreviation] Proc. Natl. Acad. Sci. U.S.A.
  • [Language] ENG
  • [Databank-accession-numbers] GEO/ GSE9715
  • [Grant] United States / NCI NIH HHS / CA / R01 CA100907; United States / NCI NIH HHS / CA / 1 R01 CA100907; United States / Intramural NIH HHS / /
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / EREG protein, human; 0 / Epiregulin; 0 / RNA, Messenger; 0 / Tumor Suppressor Proteins; 4JG2LF96VF / tuberous sclerosis complex 2 protein; 62229-50-9 / Epidermal Growth Factor; EC 2.7.- / Protein Kinases; EC 2.7.1.1 / MTOR protein, human; EC 2.7.1.1 / TOR Serine-Threonine Kinases
  • [Other-IDs] NLM/ PMC2265180
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87. Herry I, Neukirch C, Debray MP, Mignon F, Crestani B: Dramatic effect of sirolimus on renal angiomyolipomas in a patient with tuberous sclerosis complex. Eur J Intern Med; 2007 Jan;18(1):76-7

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Dramatic effect of sirolimus on renal angiomyolipomas in a patient with tuberous sclerosis complex.
  • Angiomyolipomas are very common in patients with tuberous sclerosis complex (TSC) and cause substantial morbidity.
  • We report the case of a woman with TSC and giant angiolipomas in whom sirolimus induced a dramatic reduction in bilateral renal tumors.

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  • (PMID = 17223050.001).
  • [ISSN] 0953-6205
  • [Journal-full-title] European journal of internal medicine
  • [ISO-abbreviation] Eur. J. Intern. Med.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
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88. Adriaensen ME, Cramer MJ, Brouha ME, Schaefer-Prokop CM, Prokop M, Doevendans PA, Zonnenberg BA, Feringa HH: Echocardiographic screening results in patients with tuberous sclerosis complex. Tex Heart Inst J; 2010;37(3):280-3
MedlinePlus Health Information. consumer health - Tuberous Sclerosis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Echocardiographic screening results in patients with tuberous sclerosis complex.
  • We sought to examine the frequency of abnormal echocardiographic findings in patients with tuberous sclerosis complex.
  • In a retrospective cohort study, we included all patients with known tuberous sclerosis complex who had been sent to our cardiology department for echocardiographic screening from 1995 through August 2003 (n=56).
  • We used descriptive statistics, the Mann-Whitney U test, and the chi(2) test.
  • The clinical consequence of this finding is still unknown.
  • We conclude that echocardiographic abnormalities are common in patients with tuberous sclerosis complex.

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  • (PMID = 20548802.001).
  • [ISSN] 1526-6702
  • [Journal-full-title] Texas Heart Institute journal
  • [ISO-abbreviation] Tex Heart Inst J
  • [Language] ENG
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC2879195
  • [Keywords] NOTNLM ; Adolescent / adult / child / echocardiography / hamartoma/complications / heart neoplasms/ultrasonography / rhabdomyoma/ultrasonography / tuberous sclerosis/complications
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89. Berhouma M: Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective. World J Pediatr; 2010 May;6(2):103-10
MedlinePlus Health Information. consumer health - Tuberous Sclerosis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective.
  • BACKGROUND: Tuberous sclerosis complex (TSC), an autosomal dominant genetic disorder, can lead to the development of hamartomas in various organs, including the heart, lungs, kidneys, skin and brain.
  • The management of subependymal giant cell tumors (SGCTs) is still controversial, and peri- and/or intraventricular neoplasms may lead to life-threatening hydrocephalus.
  • This review aims to clarify the specific role of neurosurgeons in the multidisciplinary management of SGCTs in children with TSC.
  • DATA SOURCES: Based on the recent scientific literature and personal experience, we reviewed the up-to-date data and discussed the trends in the management of SGCTs in children with TSC.
  • The data were collected after a bibliography made using PubMed/Medline with these terms: subependymal, subependymal giant cell astrocytoma, subependymal giant cell tumor, and tuberous sclerosis complex.
  • In children with TSC, precise clinical and/or imaging criteria are mandatory to differentiate SENs that are always asymptomatic and riskless from SGCTs that have the potential to grow and therefore to obstruct cerebrospinal fluid pathways leading to hydrocephalus.
  • CONCLUSIONS: An earlier diagnosis of SGCT in neurologically asymptomatic children with TSC may allow a precocious surgical removal of the tumor before the installation of increased intracranial pressure signs, an attitude that is being progressively adopted to lessen the morbimortality rate.
  • [MeSH-major] Astrocytoma / complications. Brain Neoplasms / complications. Tuberous Sclerosis / complications

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  • (PMID = 20490765.001).
  • [ISSN] 1867-0687
  • [Journal-full-title] World journal of pediatrics : WJP
  • [ISO-abbreviation] World J Pediatr
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Tumor Suppressor Proteins; 0 / tuberous sclerosis complex 1 protein; 4JG2LF96VF / tuberous sclerosis complex 2 protein
  • [Number-of-references] 60
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90. de Vries PJ: Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex. Neurotherapeutics; 2010 Jul;7(3):275-82
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex.
  • Until recently, the neuropsychiatric phenotype of tuberous sclerosis complex (TSC) was presumed to be caused by the structural brain abnormalities and/or seizures seen in the disorder.
  • However, advances in the molecular biology of the disorder have shown that TSC is a mammalian target of rapamycin (mTOR) overactivation syndrome, and that direct molecular pathways exist between gene mutation and cognitive/neurodevelopmental phenotype.
  • Molecularly-targeted treatments using mTOR inhibitors (such as rapamycin) are showing great promise for the physical and neurological phenotype of TSC.
  • Pre-clinical and early-phase clinical studies of the cognitive and neurodevelopmental features of TSC suggest that some of the neuropsychiatric phenotypes might also be reversible, even in adults with the disorder.
  • TSC, fragile X, neurofibromatosis type 1, and disorders associated with phosphatase and tensin homo (PTEN) mutations, all signal through the mTOR signaling pathway, with the TSC1-TSC2 protein complex as a molecular switchboard at its center.
  • The study of molecularly targeted treatments in TSC and related disorders, therefore, may be of scientific and clinical value not only to those with TSC, but to a larger population that may have a neuropsychiatric phenotype attributable to mTOR overactivation or dysregulation.
  • [MeSH-major] Autistic Disorder / physiopathology. Autistic Disorder / therapy. Tuberous Sclerosis / physiopathology. Tuberous Sclerosis / therapy


91. Jurkiewicz E, Jóźwiak S, Bekiesińska-Figatowska M, Pakieła-Domańska D, Pakuła-Kościesza I, Walecki J: Cerebellar lesions in children with tuberous sclerosis complex. Neuroradiol J; 2006 Nov 30;19(5):577-82

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cerebellar lesions in children with tuberous sclerosis complex.
  • Cerebellar lesions in tuberous sclerosis complex are less frequent than cerebral findings.
  • We present the magnetic resonance (MR) features of uncommon cerebellar changes found in a large series of children with tuberous sclerosis complex (TSC).
  • MR examinations of 73 children (38 males and 35 females) with TSC were reviewed.
  • None of cortical cerebral tubers showed contrast enhancement.
  • They were not found in the absence of cerebral tubers and may associated with parenchymal volume loss.

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  • (PMID = 24351257.001).
  • [ISSN] 1971-4009
  • [Journal-full-title] The neuroradiology journal
  • [ISO-abbreviation] Neuroradiol J
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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92. Crino PB: Do we have a cure for tuberous sclerosis complex? Epilepsy Curr; 2008 Nov-Dec;8(6):159-62

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Do we have a cure for tuberous sclerosis complex?
  • The recent development of several mouse models for tuberous sclerosis complex (TSC) provides in vivo systems to test new therapies for the neurological manifestations of TSC.
  • Rapamycin is known to antagonize the effects of loss of TSC protein function in vitro and in mouse TSC models, rapamycin can prevent seizures and improve learning task performance.
  • These findings provide new hope for TSC patients suffering from intractable seizures and possibly, for those with autism and cognitive disabilities.

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  • (PMID = 19127311.001).
  • [ISSN] 1535-7597
  • [Journal-full-title] Epilepsy currents
  • [ISO-abbreviation] Epilepsy Curr
  • [Language] ENG
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC2610234
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93. Holmes GL, Stafstrom CE, Tuberous Sclerosis Study Group: Tuberous sclerosis complex and epilepsy: recent developments and future challenges. Epilepsia; 2007 Apr;48(4):617-30
MedlinePlus Health Information. consumer health - Tuberous Sclerosis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Tuberous sclerosis complex and epilepsy: recent developments and future challenges.
  • Tuberous sclerosis complex (TSC) is a congenital syndrome characterized by the widespread development of benign tumors in multiple organs, caused by mutations in one of the tumor suppressor genes, TSC1 or TSC2.
  • About 80% of affected patients have a new mutation, and the remaining 20% have inherited a TSC gene mutation from a parent.
  • The disorder affects approximately 1 in 6000 individuals.
  • Cortical tubers are the neuropathological hallmark of TSC.
  • The most common neurological manifestations of TSC are epilepsy, mental retardation, and autistic behavior.
  • Epilepsy occurs in up to 80-90% of patients and is often intractable, with a poor response to anticonvulsant medications.
  • While the molecular basis of TSC is well established, far less is known about the mechanisms of epilepsy in this disorder.
  • In this article, we first summarize known clinical aspects of TSC with emphasis on its neurological features.
  • Then, based on the molecular, pathological, immunohistochemical, neurochemical, and physiological properties of tubers in patients with TSC and in animal models, we discuss possible mechanisms of seizures and epileptogenesis in TSC.
  • Finally, we provide an updated literature review and a consensus statement from the Tuberous Sclerosis Complex Working Group for future research into the mechanisms of epilepsy in TSC.
  • [MeSH-major] Epilepsy / genetics. Epilepsy / physiopathology. Genes, Tumor Suppressor / physiology. Tuberous Sclerosis / genetics. Tuberous Sclerosis / pathology
  • [MeSH-minor] Animals. Animals, Genetically Modified / genetics. Anticonvulsants / therapeutic use. Clinical Protocols. Consensus. Disease Models, Animal. Drug Resistance. Genetic Predisposition to Disease / genetics. Humans. Mice. Mice, Knockout. Mutation / genetics. Phenotype. Rats. Research Design / trends

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  • [CommentIn] Epilepsia. 2007 Aug;48(8):1629-30; author reply 1632-4 [17692051.001]
  • [CommentIn] Epilepsia. 2007 Aug;48(8):1632; author reply 1632-4 [17692054.001]
  • [CommentIn] Epilepsia. 2007 Aug;48(8):1630-1; author reply 1632-4 [17692052.001]
  • (PMID = 17386056.001).
  • [ISSN] 0013-9580
  • [Journal-full-title] Epilepsia
  • [ISO-abbreviation] Epilepsia
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anticonvulsants
  • [Number-of-references] 131
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94. Zaroff CM, Morrison C, Ferraris N, Weiner HL, Miles DK, Devinsky O: Developmental outcome of epilepsy surgery in tuberous sclerosis complex. Epileptic Disord; 2005 Dec;7(4):321-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Developmental outcome of epilepsy surgery in tuberous sclerosis complex.
  • In Tuberous sclerosis complex (TSC), neurological dysfunction, usually in association with epilepsy, is responsible for the greatest degree of disease-related disability.
  • Epilepsy surgery is increasingly recognized as a therapeutic option given the often medication-resistant nature of the disease.
  • Seven subjects with medically refractory epilepsy associated with TSC, who underwent surgery at a tertiary care epilepsy center and in whom both preoperative and postoperative neuropsychological data were available, were examined.
  • Age estimates of developmental level indicated developmental progress in the majority of subjects in the current sample, and may yield greater clinical information for individuals with developmental delay than do standard scores.
  • [MeSH-major] Developmental Disabilities / etiology. Epilepsies, Partial / surgery. Tuberous Sclerosis / surgery


95. Kopp CM, Muzykewicz DA, Staley BA, Thiele EA, Pulsifer MB: Behavior problems in children with tuberous sclerosis complex and parental stress. Epilepsy Behav; 2008 Oct;13(3):505-10
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Behavior problems in children with tuberous sclerosis complex and parental stress.
  • Behavioral problems are common in children with tuberous sclerosis complex (TSC) and can be challenging to manage at home.
  • Standardized measures were used to assess behavior in 99 pediatric patients with TSC and to evaluate parenting stress in their parents.
  • About 40% of the pediatric patients presented clinically significant behavioral problems, most frequently involving symptoms of autism spectrum disorder, inattention, and hyperactivity.
  • Higher seizure frequency, mixed seizure disorder, and low intellectual functioning placed the patient at significant risk for behavior problems.
  • Almost 50% of participating parents reported experiencing clinically significant parenting stress, which was associated with specific characteristics of the child, including the presence of current seizures, a history of psychiatric diagnosis, low intelligence, and behavioral problems.
  • Clinicians should be aware that behavioral problems are prominent in children with TSC.
  • Referrals for behavioral intervention and monitoring of parental stress should be included in the medical management of children with TSC.
  • [MeSH-major] Child Behavior Disorders / etiology. Parents / psychology. Stress, Psychological / physiopathology. Tuberous Sclerosis / complications. Tuberous Sclerosis / psychology
  • [MeSH-minor] Adaptation, Psychological / physiology. Adolescent. Adult. Analysis of Variance. Child. Child, Preschool. Emotions / physiology. Female. Humans. Intelligence. Male. Middle Aged. Parent-Child Relations. Retrospective Studies


96. Chandra PS, Salamon N, Nguyen ST, Chang JW, Huynh MN, Cepeda C, Leite JP, Neder L, Koh S, Vinters HV, Mathern GW: Infantile spasm-associated microencephaly in tuberous sclerosis complex and cortical dysplasia. Neurology; 2007 Feb 6;68(6):438-45
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Infantile spasm-associated microencephaly in tuberous sclerosis complex and cortical dysplasia.
  • OBJECTIVE: In children with and without infantile spasms, this study determined brain volumes and cell densities in epilepsy surgery patients with tuberous sclerosis complex (TSC) and cortical dysplasia with balloon cells (CD).
  • METHODS: We compared TSC (n = 18) and CD (n = 17) patients with normal/autopsy controls (n = 20) for MRI gray and white matter volumes and neuronal nuclei (NeuN) cell densities.
  • RESULTS: In patients without a history of infantile spasms, TSC cases showed decreased gray and white matter volumes (-16%).
  • In cases with a history of infantile spasms, both CD (-25%) and TSC (-35%) patients showed microencephaly.
  • This was confirmed in monozygotic twins with TSC, where the twin with a history of spasms had cerebral volumes less (-16%) than the twin without a history of seizures.
  • Regardless of seizure history, TSC patients showed decreased NeuN cell densities in lower gray matter (-36%), whereas CD patients had increased densities in upper cortical (+52%) and white matter regions (+65%).
  • For TSC patients, decreased lower gray matter NeuN densities correlated with reduced MRI volumes.
  • CONCLUSIONS: Patients with tuberous sclerosis without spasms showed microencephaly associated with decreased cortical neuronal densities.
  • In contrast, cortical dysplasia patients without spasms were normocephalic with increased cell densities.
  • This supports the concept that tuberous sclerosis and cortical dysplasia have different pathogenetic mechanisms despite similarities in refractory epilepsy and postnatal histopathology.
  • Furthermore, a history of infantile spasms was associated with reduced cerebral volumes in both cortical dysplasia and tuberous sclerosis patients, suggesting that spasms or their treatment may contribute to microencephaly independent of etiology.
  • [MeSH-major] Cerebral Cortex / abnormalities. Cerebral Cortex / pathology. Microcephaly / pathology. Spasms, Infantile / complications. Spasms, Infantile / pathology. Tuberous Sclerosis / complications. Tuberous Sclerosis / pathology

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  • (PMID = 17283320.001).
  • [ISSN] 1526-632X
  • [Journal-full-title] Neurology
  • [ISO-abbreviation] Neurology
  • [Language] eng
  • [Grant] United States / NINDS NIH HHS / NS / P05 NS02808; United States / NINDS NIH HHS / NS / R01 NS38992
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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97. Chu-Shore CJ, Major P, Montenegro M, Thiele E: Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. Neurology; 2009 Mar 31;72(13):1165-9
SciCrunch. Clinical Genomic Database: Data: Gene Annotation .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex.
  • BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic condition characterized by the presence of hamartomatous lesions in multiple organs, including tubers in the brain.
  • The majority of patients with TSC have epilepsy.
  • It is unknown whether variations in tuber morphology may account for this difference.
  • The objectives of this study were to determine the frequency of cyst-like tubers in patients with TSC, whether cyst-like tubers correlate with TSC genotype, and whether cyst-like cortical tubers are associated with a history of infantile spasms, epilepsy, or refractory epilepsy.
  • METHODS: A retrospective chart review was performed of 173 patients with TSC.
  • MRI images were evaluated for the presence of at least one cyst-like cortical tuber.
  • Patient charts were then reviewed for genetic mutation, a history of infantile spasms, epilepsy, and epilepsy refractory to more than three medications.
  • RESULTS: A total of 46% of patients had at least one cyst-like cortical tuber present on neuroimaging.
  • Patients with a TSC2 mutation were more likely to have a cyst-like tuber than patients with TSC1 mutation (p = 0.002) or patients with no mutation identified (p = 0.039).
  • Patients with at least one cyst-like cortical tuber were more likely to have a history of infantile spasms (p = 0.00005), epilepsy (p = 0.0038), and refractory epilepsy (p = 0.0007) than patients without a cyst-like cortical tuber.
  • CONCLUSION: Cyst-like cortical tubers are strongly associated with TSC2 gene mutation and a more aggressive seizure phenotype in patients with tuberous sclerosis complex.
  • [MeSH-major] Cysts / genetics. Epilepsy / genetics. Tuberous Sclerosis / genetics. Tumor Suppressor Proteins / genetics
  • [MeSH-minor] Adolescent. Adult. Aged. Cerebral Cortex / metabolism. Cerebral Cortex / pathology. Child. Child, Preschool. Female. Humans. Infant. Male. Middle Aged. Mutation. Retrospective Studies. Young Adult

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  • (PMID = 19332694.001).
  • [ISSN] 1526-632X
  • [Journal-full-title] Neurology
  • [ISO-abbreviation] Neurology
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Tumor Suppressor Proteins; 0 / tuberous sclerosis complex 1 protein; 4JG2LF96VF / tuberous sclerosis complex 2 protein
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98. Eluvathingal TJ, Behen ME, Chugani HT, Janisse J, Bernardi B, Chakraborty P, Juhasz C, Muzik O, Chugani DC: Cerebellar lesions in tuberous sclerosis complex: neurobehavioral and neuroimaging correlates. J Child Neurol; 2006 Oct;21(10):846-51
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  • [Title] Cerebellar lesions in tuberous sclerosis complex: neurobehavioral and neuroimaging correlates.
  • We assessed the structural and functional imaging features of cerebellar lesions and their neurobehavioral correlates in a large cohort of patients with tuberous sclerosis complex.
  • A consecutive series of 78 patients with tuberous sclerosis complex underwent magnetic resonance imaging (MRI) and positron emission tomography (PET) studies with [(18)F]fluorodeoxyglucose (FDG) and alpha-[(11)C]methyl-l-tryptophan (AMT) as part of their evaluation for epilepsy surgery.
  • [MeSH-major] Cerebellum / pathology. Mental Processes / physiology. Tuberous Sclerosis / pathology. Tuberous Sclerosis / physiopathology
  • [MeSH-minor] Adolescent. Brain Mapping. Child. Child, Preschool. Cohort Studies. Female. Fluorodeoxyglucose F18 / pharmacokinetics. Functional Laterality. Humans. Image Processing, Computer-Assisted / methods. Infant. Magnetic Resonance Imaging / methods. Male. Neuropsychological Tests. Positron-Emission Tomography / methods. Triazoles / pharmacokinetics

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  • (PMID = 17005099.001).
  • [ISSN] 0883-0738
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] eng
  • [Grant] United States / NINDS NIH HHS / NS / NS38324
  • [Publication-type] Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / 3-amino-5-mercapto-1,2,4-triazole; 0 / Triazoles; 0Z5B2CJX4D / Fluorodeoxyglucose F18
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99. Salvi PF, Bellotti C, Giulii Capponi M, Gigli R, Scicchitano F, Cancrini A: [Renal giant angiomyolipoma in tuberous sclerosis complex: case report and literature review]. G Chir; 2005 Nov-Dec;26(11-12):411-4
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  • [Title] [Renal giant angiomyolipoma in tuberous sclerosis complex: case report and literature review].
  • [Transliterated title] Angiomiolipoma renale gigante in paziente con sclerosi tuberosa: descrizione di un caso e revisione della letteratura.
  • The aim of this paper is to describe a typical clinical case of tuberous sclerosis complex (Bourneville disease) and discuss controversial issues about the management of this rare condition, with a short revision of the literature.
  • [MeSH-major] Angiomyolipoma. Kidney Neoplasms. Tuberous Sclerosis
  • [MeSH-minor] Adult. Female. Follow-Up Studies. Humans. Radiography, Abdominal. Time Factors. Tomography, X-Ray Computed

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  • (PMID = 16472417.001).
  • [ISSN] 0391-9005
  • [Journal-full-title] Il Giornale di chirurgia
  • [ISO-abbreviation] G Chir
  • [Language] ita
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Italy
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100. Bollo RJ, Kalhorn SP, Carlson C, Haegeli V, Devinsky O, Weiner HL: Epilepsy surgery and tuberous sclerosis complex: special considerations. Neurosurg Focus; 2008 Sep;25(3):E13
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  • [Title] Epilepsy surgery and tuberous sclerosis complex: special considerations.
  • Epilepsy surgery for medically refractory seizures among patients with tuberous sclerosis complex (TSC) is a well-accepted treatment option.
  • Many epilepsy centers around the world have published their experience over the past several years, supporting the idea that the best seizure control is obtained when a single tuber and associated epileptogenic zone is documented and targeted surgically.
  • Recent advances in imaging and physiological techniques that reveal the epileptogenic zone have been used successfully in children with TSC who are being evaluated for surgery.
  • Experience suggests that some patients with TSC who present with seizures that are difficult to localize and do not meet the classic selection criteria for epilepsy surgery may, nevertheless, benefit from surgery.
  • Intracranial electrode recordings performed in a large number of children with TSC undergoing epilepsy surgery have raised new questions about the relationship of the cortical tuber to the epileptogenic zone in TSC.
  • A careful assessment of the risks and benefits of any surgical strategy, compared with those associated with continued refractory epilepsy, should be considered by the treating team in conjunction with the patient's family.
  • Epilepsy surgery has not only benefited many children with TSC, but it also facilitates the understanding of epileptogenesis in TSC.
  • [MeSH-major] Epilepsy / surgery. Neurosurgical Procedures / methods. Tuberous Sclerosis / surgery






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