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1. Imhof SM, Moll AC, Schouten-van Meeteren AY: Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands. Br J Ophthalmol; 2006 Jul;90(7):875-8
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  • [Title] Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands.
  • BACKGROUND: In the Netherlands a comprehensive programme for screening just after birth for familial retinoblastoma is taking place.
  • In this report the stage of the disease at the time of detection, by way of screening, and the long term visual outcome in these patients was evaluated.
  • From January 1992-July 2004, patients at risk for familial retinoblastoma were screened 1-2 weeks after birth, and investigated for laterality, Reese-Ellsworth classification/International Classification of Retinoblastoma, macular involvement, age of primary retinoblastoma, initial therapy, and visual outcome.
  • RESULTS: 17 patients were diagnosed with familial retinoblastoma.
  • 88.3% developed bilateral, 11.7% unilateral retinoblastoma.
  • Using the International Classification of Retinoblastoma, 72% were group A, 19% were group B, 6% were group C, 3% were group E.
  • The visual outcome revealed 73.5% of eyes with 20/20-20/40, 26.5% eyes with < or = 20/100-no light perception; 5.9% of eyes were enucleated, all other eyes were treated with local or conservative treatment methods.
  • Of all eyes, 59% had extramacular retinoblastoma, 98% of patients had at least one eye with extramacular retinoblastoma.
  • CONCLUSION: Most familial retinoblastoma patients present as a R-E group I or group A when screened within 2 weeks after birth.
  • [MeSH-major] Neonatal Screening. Neoplasm Recurrence, Local / diagnosis. Retinal Neoplasms / diagnosis. Retinoblastoma / diagnosis

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  • (PMID = 16613925.001).
  • [ISSN] 0007-1161
  • [Journal-full-title] The British journal of ophthalmology
  • [ISO-abbreviation] Br J Ophthalmol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC1857137
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2. Kinge B, Tranheim RS, Eide NA: [Retinoblastoma--hereditary eye cancer in children]. Tidsskr Nor Laegeforen; 2004 Jan 22;124(2):183-5
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  • [Title] [Retinoblastoma--hereditary eye cancer in children].
  • [Transliterated title] Retinoblastom--arvelig øyekreft hos barn.
  • BACKGROUND: Retinoblastoma is a malignant tumour of the retina that occurs in early childhood.
  • RESULTS: The yearly incidence of retinoblastoma is approximately one per 14 000 live births, which gives four new cases of retinoblastoma per year in Norway.
  • Symptoms of retinoblastoma are strabismus, reduced visual acuity and red eye, but the absolutely most important sign is leukokoria (white pupillary reflex).
  • The goal of treatment is to destroy all tumour tissue, but not the surrounding tissue.
  • Treatment options are enucleation, chemotherapy, external beam radiation, radioactive isotope plaques, cryotherapy, photocoagulation, or a combination of these depending upon the size and location of the tumour.
  • INTERPRETATION: The overall results in the treatment of retinoblastoma are favourable and have improved over the last few years because of better treatment modalities.
  • It is important that physicians bear in mind the signs of retinoblastoma and especially the alarming sign of leukokoria and acute strabismus in a child.
  • [MeSH-major] Retinal Neoplasms. Retinoblastoma

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  • [CommentIn] Tidsskr Nor Laegeforen. 2004 Mar 18;124(6):830; author reply 830 [15039827.001]
  • (PMID = 14743233.001).
  • [ISSN] 0807-7096
  • [Journal-full-title] Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række
  • [ISO-abbreviation] Tidsskr. Nor. Laegeforen.
  • [Language] nor
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Norway
  • [Number-of-references] 26
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3. Tsinopoulos I, Papadopoulou V, Papandroudis A, Stangos N: Retinoblastoma with an unusual presentation in a child with polydactyly. Clinical associations and genetic implications. Acta Ophthalmol Scand; 2001 Feb;79(1):79-80
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  • [Title] Retinoblastoma with an unusual presentation in a child with polydactyly. Clinical associations and genetic implications.
  • Retinoblastoma is the most common intraocular malignancy of childhood.
  • We report a case of an 11-month old child with polydactyly with this presentation of retinoblastoma.
  • This was a Reese Ellsworth group 5 retinoblastoma with an indication for enucleation.
  • Therefore, subsequent chemotherapy treatment was undertaken.
  • The retinoblastoma gene is located in the long arm of chromosome 13.
  • Almost all familial and bilateral cases carry the abnormal gene.
  • In unilateral isolated retinoblastomas--as in our case--most patients do not have a germinal mutation, however, only DNA analysis can safely exclude that.
  • We also discuss possible factors having a link to both polydactyly and retinoblastoma.
  • [MeSH-major] Polydactyly / diagnosis. Retinal Neoplasms / ultrasonography. Retinoblastoma / ultrasonography
  • [MeSH-minor] Humans. Infant. Magnetic Resonance Imaging. Male. Mutation. Neoplasm Invasiveness. Retinoblastoma Protein / genetics

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  • (PMID = 11167295.001).
  • [ISSN] 1395-3907
  • [Journal-full-title] Acta ophthalmologica Scandinavica
  • [ISO-abbreviation] Acta Ophthalmol Scand
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Retinoblastoma Protein
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4. Antoneli CB, Ribeiro Kde C, Sakamoto LH, Chojniak MM, Novaes PE, Arias VE: Trilateral retinoblastoma. Pediatr Blood Cancer; 2007 Mar;48(3):306-10
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  • [Title] Trilateral retinoblastoma.
  • BACKGROUND: Trilateral retinoblastoma (TRB) is a syndrome consisting of unilateral or bilateral hereditary retinoblastoma (Rb) associated with an intracranial neuroblastic tumor.
  • This article reports four cases of TRB and discusses the role of neuroimaging screening for early detection.
  • PROCEDURE: From January 1986 to December 2003, 470 children with Rb were admitted to the Pediatrics and Ophthalmology Departments, A C Camargo Hospital, São Paulo, Brazil.
  • RESULTS: There were four patients with pineoblastoma, two of whom had a positive familial history.
  • Three patients had bilateral disease and all of them had one eye enucleated, followed by chemotherapy and/or external beam radiation therapy (EBRT).
  • In spite of intensive treatment, all patients died with progressive disease within 7, 8, 12, and 12 months after diagnosis of TRB.
  • CONCLUSIONS: Early diagnosis as well as new therapeutic approaches are needed to achieve better results.
  • [MeSH-major] Eye Neoplasms / pathology. Neoplasms, Multiple Primary / pathology. Neoplasms, Second Primary / pathology. Pinealoma / pathology. Retinoblastoma / pathology
  • [MeSH-minor] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Child, Preschool. Cisplatin / administration & dosage. Combined Modality Therapy. Cranial Irradiation. Cyclophosphamide / administration & dosage. Disease Progression. Etoposide / administration & dosage. Eye Enucleation. Fatal Outcome. Female. Humans. Idarubicin / administration & dosage. Ifosfamide / administration & dosage. Male. Methotrexate / administration & dosage. Neoplastic Syndromes, Hereditary / genetics. Neoplastic Syndromes, Hereditary / pathology. Prognosis. Vincristine / administration & dosage

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  • [Copyright] (c) 2006 Wiley-Liss, Inc.
  • (PMID = 16572402.001).
  • [ISSN] 1545-5009
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 5J49Q6B70F / Vincristine; 6PLQ3CP4P3 / Etoposide; 8N3DW7272P / Cyclophosphamide; Q20Q21Q62J / Cisplatin; UM20QQM95Y / Ifosfamide; YL5FZ2Y5U1 / Methotrexate; ZRP63D75JW / Idarubicin
  • [Number-of-references] 27
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5. Süveges I: [Intraocular tumours]. Magy Onkol; 2005;49(1):9-13
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  • Two of them deserve special attention: melanoma malignum oculi in adults and retinoblastoma in children.
  • Histologically the epitheloid cell-type of melanoma is more malignant than those containing only spindle cells.
  • Their treatment depends on the size: in the case of large tumours enucleation is required, while for the smaller ones, radiation therapy can be applied.
  • Retinoblastoma is most common in children of 1-2 years of age.
  • It has familial and sporadic forms.
  • Sixty-seven percent of the inherited-type cases are bilateral.
  • A white tissue mass growing into the vitreous is seen on the fundus.
  • In the case of large tumours the treatment is enucleation; in bilateral processes the bulbus with the larger mass is removed and the other eye is treated with radiation therapy.
  • In both cases chemotherapy is used according to a prescribed schedule.
  • These are treated with radiotherapy, chemotherapy and hormone therapy.
  • [MeSH-minor] Humans. Lymphoma / diagnosis. Lymphoma / therapy. Melanoma / diagnosis. Melanoma / therapy. Retinal Neoplasms / diagnosis. Retinal Neoplasms / therapy. Retinoblastoma / diagnosis. Retinoblastoma / therapy

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  • (PMID = 15902327.001).
  • [ISSN] 0025-0244
  • [Journal-full-title] Magyar onkologia
  • [ISO-abbreviation] Magy Onkol
  • [Language] hun
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Hungary
  • [Number-of-references] 2
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6. Schueler AO, Anastassiou G, Jurklies C, Havers W, Wieland R, Bornfeld N: De novo intraocular retinoblastoma development after chemotherapy in patients with hereditary retinoblastoma. Retina; 2006 Apr;26(4):425-31
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  • [Title] De novo intraocular retinoblastoma development after chemotherapy in patients with hereditary retinoblastoma.
  • OBJECTIVE: Identification of incidence and risk factors for recurrence of de novo retinoblastomas after chemotherapy treatment in patients with hereditary retinoblastoma.
  • METHODS: A retrospective, case-control study of 32 patients (50 eyes) with sporadic or familial bilateral retinoblastomas was conducted.
  • Patients received a systemic chemotherapy regimen applying three courses of a combination of three drugs (including vincristine, etoposide, carboplatin, or cyclophosphamide) followed by additional local therapy.
  • The primary outcome analyzed was the development of retinoblastomas, probably arising as the cause of a new mutational event (de novo) after completion of chemotherapy treatment.
  • RESULTS: Patients were treated with an average of 5.8 +/- 1.8 chemotherapy courses (4.6 +/- 2.4-year follow-up time).
  • These tumors occurred during chemotherapy treatment or within 7 months of chemotherapy completion.
  • No de novo tumors developed in patients older than 3.2 years.
  • Children who developed de novo tumors were significantly younger at the time of diagnosis (6.7 +/- 6.3 months vs 14.4 +/- 11.4 months, P < 0.001), and had a significantly lower number of tumors per eye at treatment begin (2.6 +/- 2.3 tumors vs 4.3 +/- 6.4 tumors, P < 0.001).
  • The difference of the total numbers of retinoblastomas that developed per eye between the patients that developed de novo retinoblastomas during or after chemotherapy and patients who did not was not statistically significant (4.9 +/- 2.7 and 4.3 +/- 6.4, respectively, P = 0.8).
  • No eye was lost because of de novo retinoblastoma development, and 92% of the eyes were preserved.
  • CONCLUSIONS: De novo retinoblastomas developed both during and after completion of chemotherapy treatment.
  • Younger children were at a significantly higher risk for developing de novo intraocular retinoblastomas.
  • Good tumor control and eye preservation rates were achieved with regular and frequent control examinations in addition to the immediate treatment of de novo retinoblastomas.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Neoplasm Recurrence, Local. Retinal Neoplasms / drug therapy. Retinal Neoplasms / genetics. Retinoblastoma / drug therapy. Retinoblastoma / genetics
  • [MeSH-minor] Age Factors. Brachytherapy. Case-Control Studies. Female. Humans. Incidence. Infant. Male. Radiotherapy, Adjuvant. Retrospective Studies. Risk Factors. Time Factors

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  • (PMID = 16603962.001).
  • [ISSN] 0275-004X
  • [Journal-full-title] Retina (Philadelphia, Pa.)
  • [ISO-abbreviation] Retina (Philadelphia, Pa.)
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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7. Schueler AO, Jurklies C, Heimann H, Wieland R, Havers W, Bornfeld N: Thermochemotherapy in hereditary retinoblastoma. Br J Ophthalmol; 2003 Jan;87(1):90-5
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  • [Title] Thermochemotherapy in hereditary retinoblastoma.
  • BACKGROUND/AIM: The combination of chemotherapy and transpupillary thermotherapy, thermochemotherapy (TCT) has become an established part of the treatment plan in advanced retinoblastoma.
  • The aim of this study was to identify safe indications, the complications as well as the limitations of this new treatment for retinoblastoma.
  • METHODS: Tumour response and side effects of TCT with an indirect laser ophthalmoscope (spot size about 400 micro m) in 55 tumours of 26 children with bilateral retinoblastoma were analysed.
  • Using the Reese-Ellsworth classification system, nine of 35 eyes were classified as type I, 13 eyes as type II, 10 eyes as type III, and three eyes as type V.
  • Treatment parameters were 4.3 (1.6) (median 5) thermochemotherapy sessions with a mean energy of 539 (211) mW and a mean duration of 13.5 (5.6) minutes.
  • Chemotherapy courses (vincristine, etoposide, and carboplatin) were repeated every 3 weeks.
  • The recurrence rate was 17% for tumours with a height less than 2 mm, 37% for tumours with a height between 2 and 4 mm, and 63% for larger retinoblastomas.
  • Complications during therapy included transient corneal opacification in two eyes (6%), focal iris atrophy (three eyes, 8.5%), peripheral lens opacity (two eyes, 6%), circumscribed transient retinal detachment (one eye, 3%) and diffuse choroidal atrophy (one eye, 3%).
  • CONCLUSION: TCT using an indirect laser ophthalmoscope with a spot size of about 400 micro m was efficient for retinoblastoma with a tumour height less than 4 mm.
  • Treatment related complications occurred in less than 9% of the treated eyes.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Hyperthermia, Induced / methods. Retinal Neoplasms / therapy. Retinoblastoma / therapy
  • [MeSH-minor] Carboplatin / administration & dosage. Child. Combined Modality Therapy / methods. Cyclophosphamide / administration & dosage. Etoposide / administration & dosage. Female. Follow-Up Studies. Humans. Infant. Infant, Newborn. Neoplasm Recurrence, Local / etiology. Retrospective Studies. Risk Factors. Treatment Outcome. Vincristine / administration & dosage

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  • [CommentIn] Br J Ophthalmol. 2003 Nov;87(11):1432 [14609861.001]
  • (PMID = 12488270.001).
  • [ISSN] 0007-1161
  • [Journal-full-title] The British journal of ophthalmology
  • [ISO-abbreviation] Br J Ophthalmol
  • [Language] eng
  • [Publication-type] Journal Article; Multicenter Study
  • [Publication-country] England
  • [Chemical-registry-number] 5J49Q6B70F / Vincristine; 6PLQ3CP4P3 / Etoposide; 8N3DW7272P / Cyclophosphamide; BG3F62OND5 / Carboplatin
  • [Other-IDs] NLM/ PMC1771458
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8. Shields CL, Meadows AT, Shields JA, Carvalho C, Smith AF: Chemoreduction for retinoblastoma may prevent intracranial neuroblastic malignancy (trilateral retinoblastoma). Arch Ophthalmol; 2001 Sep;119(9):1269-72
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  • [Title] Chemoreduction for retinoblastoma may prevent intracranial neuroblastic malignancy (trilateral retinoblastoma).
  • OBJECTIVE: To evaluate whether neoadjuvant intravenous chemotherapy (chemoreduction) for retinoblastoma reduces the risk for associated intracranial neuroblastic tumor (trilateral retinoblastoma).
  • PARTICIPANTS: Two hundred fourteen consecutive children with newly diagnosed retinoblastoma treated at a major ocular oncology center from January 1, 1995, to July 1, 1999.
  • MAIN OUTCOME MEASURE: Development of associated intracranial neuroblastic tumor (trilateral retinoblastoma).
  • RESULTS: During the 54-month study period, 142 patients (66%) received chemoreduction (consisting of vincristine sulfate, etoposide phosphate, and carboplatin therapy) as part of their treatment strategy (chemoreduction group), whereas 72 (34%) were treated with nonchemoreduction methods (nonchemoreduction group).
  • In the chemoreduction group, no associated intracranial neuroblastic tumor developed during the mean 47-month follow-up.
  • Based on a recent meta-analysis of the prevalence of trilateral retinoblastoma, we would have expected the intracranial tumor to develop in 5 to 15 patients with hereditary retinoblastoma.
  • This lack of associated trilateral retinoblastoma in the chemoreduction group was significantly less than expected using binomial distribution (P<.001).
  • In the nonchemoreduction group, associated intracranial tumor (pinealoblastoma) developed in 1 patient, a finding consistent with the expected frequency.
  • CONCLUSION: Chemoreduction protects against the highly fatal associated intracranial neuroblastic tumor (trilateral retinoblastoma).
  • This observation is especially important in children with bilateral or familial retinoblastoma who are at greatest risk for this brain tumor.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Brain Neoplasms / prevention & control. Pinealoma / prevention & control. Retinal Neoplasms / drug therapy. Retinoblastoma / drug therapy
  • [MeSH-minor] Carboplatin / administration & dosage. Child. Child, Preschool. Drug Administration Schedule. Etoposide / administration & dosage. Female. Humans. Infant. Male. Retrospective Studies. Vincristine / administration & dosage

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  • [CommentIn] Arch Ophthalmol. 2003 Oct;121(10):1513 [14557204.001]
  • (PMID = 11545631.001).
  • [ISSN] 0003-9950
  • [Journal-full-title] Archives of ophthalmology (Chicago, Ill. : 1960)
  • [ISO-abbreviation] Arch. Ophthalmol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 5J49Q6B70F / Vincristine; 6PLQ3CP4P3 / Etoposide; BG3F62OND5 / Carboplatin
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9. De Ioris MA, Fidani P, Munier FL, Serra A, Ilari I, Popovic MB, Natali G, Secco DE, Cozza R: Successful treatment of trilateral retinoblastoma with conventional and high-dose chemotherapy plus radiotherapy: a case report. J Pediatr Hematol Oncol; 2010 Nov;32(8):e343-5
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  • [Title] Successful treatment of trilateral retinoblastoma with conventional and high-dose chemotherapy plus radiotherapy: a case report.
  • Trilateral retinoblastoma (TRB) is a rare condition characterized by an intracranial neuroblastic tumor associated with bilateral or unilateral retinoblastoma (RB).
  • An 18-month-old patient with familial bilateral RB was referred for a pineal lesion detected on a screening by magnetic resonance imaging.
  • The child, considered inoperable by 2 different neurosurgical teams, was treated with conventional chemotherapy (methotrexate, vincristine, vepeside, cyclophosphamide, and carboplatin) plus tandem transplantation (vepeside/carboplatin and thiotepa/mephalan) followed by local radiotherapy.
  • An early and aggressive treatment may improve the prognosis of TRB.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Pinealoma / drug therapy. Pinealoma / radiotherapy. Retinoblastoma / drug therapy. Retinoblastoma / radiotherapy
  • [MeSH-minor] Combined Modality Therapy. Humans. Infant. Magnetic Resonance Imaging. Prognosis. Radiation Dosage. Radiotherapy. Remission Induction

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  • (PMID = 20881869.001).
  • [ISSN] 1536-3678
  • [Journal-full-title] Journal of pediatric hematology/oncology
  • [ISO-abbreviation] J. Pediatr. Hematol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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10. Wilson MW, Haik BG, Billups CA, Rodriguez-Galindo C: Incidence of new tumor formation in patients with hereditary retinoblastoma treated with primary systemic chemotherapy: is there a preventive effect? Ophthalmology; 2007 Nov;114(11):2077-82
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Incidence of new tumor formation in patients with hereditary retinoblastoma treated with primary systemic chemotherapy: is there a preventive effect?
  • PURPOSE: To report the incidence of new tumor formation in hereditary retinoblastoma patients treated with primary systemic chemotherapy.
  • PARTICIPANTS: Fifty-eight consecutive patients with hereditary retinoblastoma treated with primary systemic chemotherapy.
  • METHODS: The charts of 58 consecutive patients with hereditary retinoblastoma treated between January 1996 and August 2005 were reviewed.
  • Data extracted included gender, age at diagnosis, family history of retinoblastoma, laterality of disease, tumors per eye, Reese-Ellsworth grouping of affected eyes, starting and ending dates for chemotherapy, number of cycles of chemotherapy, chemotherapy regimen, need for external beam radiotherapy and/or enucleation, and development and location (macula, midzone, and periphery) of new tumors after the start of systemic chemotherapy.
  • MAIN OUTCOME MEASURE: New tumor formation after treatment with primary systemic chemotherapy.
  • Seven patients (12%) with a median age of 1.6 months at diagnosis formed 36 new tumors in 11 eyes after the start of chemotherapy.
  • Median time from initiation of chemotherapy to detection of the first new tumor was 3 months (range, 1-15).
  • An age of <6 months at diagnosis, family history of retinoblastoma, and Reese-Ellsworth grouping of I to III were found to correlate significantly with an increased incidence of new tumor formation (P<0.001, P<0.001, and P = 0.021, respectively).
  • CONCLUSION: New tumors continue to form in patients with hereditary retinoblastoma despite treatment with primary systemic chemotherapy.
  • However, chemotherapy may impact small previously undetected lesions by slowing their growth and facilitating later focal consolidation.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Neoplasms, Second Primary / etiology. Retinal Neoplasms / etiology. Retinoblastoma / etiology
  • [MeSH-minor] Child, Preschool. Female. Humans. Incidence. Infant. Male. Retrospective Studies. Time Factors

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  • (PMID = 17628684.001).
  • [ISSN] 1549-4713
  • [Journal-full-title] Ophthalmology
  • [ISO-abbreviation] Ophthalmology
  • [Language] eng
  • [Grant] United States / PHS HHS / / 21765; United States / NCI NIH HHS / CA / CA 23099
  • [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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11. Shields CL, Shelil A, Cater J, Meadows AT, Shields JA: Development of new retinoblastomas after 6 cycles of chemoreduction for retinoblastoma in 162 eyes of 106 consecutive patients. Arch Ophthalmol; 2003 Nov;121(11):1571-6
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  • [Title] Development of new retinoblastomas after 6 cycles of chemoreduction for retinoblastoma in 162 eyes of 106 consecutive patients.
  • OBJECTIVE: To evaluate the occurrence of new retinoblastomas in patients treated with 6 cycles of chemoreduction.
  • PARTICIPANTS: A total of 162 eyes of 106 patients with retinoblastoma treated with 6 cycles of chemoreduction between January 1, 1995, and May 31, 2002.
  • INTERVENTION: All patients received intravenous chemoreduction with vincristine sulfate, etoposide, and carboplatin, combined with focal treatment (cryotherapy or thermotherapy) to each retinal tumor.
  • MAIN OUTCOME MEASURE: Development of new intraretinal retinoblastoma during or after treatment with chemoreduction.
  • RESULTS: Of 28 patients with unilateral retinoblastoma, new intraretinal tumor development was found during or after chemoreduction in 2 (9%) of the 23 patients with sporadic disease and 4 (80%) of the 5 patients with familial disease.
  • Of the 78 patients with bilateral retinoblastoma, new tumor development was found during or after chemoreduction in 11 (19%) of the 57 patients with sporadic disease and 8 (38%) of the 21 patients with familial disease.
  • By multivariate analysis, the most important risk factors for the development of new tumors was younger age at presentation (median age, 2 months with new tumor vs 9 months without new tumor) and family history of retinoblastoma (12 [48%] of patients with new tumor vs 14 [17%] without new tumor).
  • CONCLUSIONS: Children with retinoblastoma treated with chemoreduction should be followed for new intraretinal tumor development, as it peaks at a mean interval of 5 months after initiation of chemoreduction and affects 24% of patients by 5 years of follow-up.
  • New tumors are most commonly found in those who develop disease as young infants and those with a family history of retinoblastoma.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Carboplatin / therapeutic use. Etoposide / therapeutic use. Neoplasm Recurrence, Local. Retinal Neoplasms / drug therapy. Retinoblastoma / drug therapy. Vincristine / therapeutic use
  • [MeSH-minor] Child, Preschool. Combined Modality Therapy. Cryotherapy. Female. Follow-Up Studies. Humans. Hyperthermia, Induced. Infant. Infant, Newborn. Male. Prospective Studies. Risk Factors. Survival Rate

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  • (PMID = 14609913.001).
  • [ISSN] 0003-9950
  • [Journal-full-title] Archives of ophthalmology (Chicago, Ill. : 1960)
  • [ISO-abbreviation] Arch. Ophthalmol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 5J49Q6B70F / Vincristine; 6PLQ3CP4P3 / Etoposide; BG3F62OND5 / Carboplatin; CEV regimen
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12. Plowman PN, Pizer B, Kingston JE: Pineal parenchymal tumours: II. On the aggressive behaviour of pineoblastoma in patients with an inherited mutation of the RB1 gene. Clin Oncol (R Coll Radiol); 2004 Jun;16(4):244-7
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  • [Title] Pineal parenchymal tumours: II. On the aggressive behaviour of pineoblastoma in patients with an inherited mutation of the RB1 gene.
  • This report relates to a retrospective analysis of two non-randomised cohorts of patients with pineoblastoma, with some differences in presenting features and treatment characteristics.
  • We have identified a large difference in survival depending on the possession or otherwise of the mutated RB (retinoblastoma) gene in the genome/karyotype.
  • Eight children with familial retinoblastoma (non-metastatic at presentation) developed pineoblastoma and were treated by chemotherapy and radiotherapy.
  • It is suggested that the inheritance of the mutated retinoblastoma gene is not only causal in the generation of this tumour type but, in a way that is yet to be defined, renders such tumours more aggressive or less responsive to therapy.
  • [MeSH-major] Brain Neoplasms / epidemiology. Pineal Gland. Pinealoma / epidemiology. Retinoblastoma Protein / genetics

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  • (PMID = 15214647.001).
  • [ISSN] 0936-6555
  • [Journal-full-title] Clinical oncology (Royal College of Radiologists (Great Britain))
  • [ISO-abbreviation] Clin Oncol (R Coll Radiol)
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Retinoblastoma Protein
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13. Schoeler D, Lindner T, Schulenburg S, Von der, Pink D, Reichardt P: Coincidence of retinoblastoma and leiomyosarcoma in father and daughter - a rare case report. J Clin Oncol; 2004 Jul 15;22(14_suppl):9059

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  • [Title] Coincidence of retinoblastoma and leiomyosarcoma in father and daughter - a rare case report.
  • : 9059 Retinoblastoma is the most common primary ocular malignancy of childhood, which results from sporadic or heritable mutations in the retinoblastoma gene, RB1.
  • We here report a very rare case of familial retinoblastoma and leiomyosarcoma in a father and his daughter.
  • Father: The 54-years old male was diagnosed with unilateral retinoblastoma of his right eye in 1950 and underwent enucleation in the age of 1, he was not treated by chemotherapy or radiation in the childhood.
  • He was treated by polychemotherapy, radiotherapy and surgery of lung and soft tissue metastases.
  • At the moment the patient is treated by a fourth line chemotherapy with ET-743.
  • Daughter: The 31-years old female was diagnosed with bilateral retinoblastoma in 1973.
  • In 1980 retinoblastoma recurred in the left orbita, she was treated by surgery and radiotherapy.
  • She underwent a chemotherapy with epirubicin/ifosfamide followed by surgery.
  • Since that time the situation remains stable.
  • CONCLUSIONS: The propensity for survivors of heritable retinoblastoma to develop second nonocular malignancies is well known, they can occur within the field of irradiation (case of the daughter) or fail previous radiation or chemotherapy (case of the father).
  • In the presented family the grandchild is also affected by retinoblastoma, fortunately it is under local control by laser therapy.
  • With this familial history systematic screening for tumor symptoms should be performed.

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  • (PMID = 28014098.001).
  • [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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14. Kansara M, Thomas DM: Molecular pathogenesis of osteosarcoma. DNA Cell Biol; 2007 Jan;26(1):1-18
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  • These contributions have included insight into the roles of key cancer genes such as the retinoblastoma tumor suppressor gene and TP53, the identification of familial cancer syndromes implicating DNA helicases, and dramatic improvements in survival by the use of adjuvant chemotherapy.
  • [MeSH-minor] Animals. Bloom Syndrome / genetics. Bloom Syndrome / pathology. Chromosome Aberrations. Cytoskeletal Proteins / genetics. Cytoskeletal Proteins / metabolism. Genetic Predisposition to Disease. Humans. Matrix Metalloproteinases / genetics. Matrix Metalloproteinases / metabolism. Mice. Mutation. Neoplasm Invasiveness. Neoplasm Metastasis. Neurofibromin 2 / genetics. Neurofibromin 2 / metabolism. Osteitis Deformans / genetics. Osteitis Deformans / pathology. RecQ Helicases / genetics. RecQ Helicases / metabolism. Retinoblastoma Protein / genetics. Retinoblastoma Protein / metabolism. Rothmund-Thomson Syndrome / genetics. Rothmund-Thomson Syndrome / pathology. Tumor Suppressor Protein p53 / genetics. Tumor Suppressor Protein p53 / metabolism. Werner Syndrome / genetics. Werner Syndrome / pathology

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  • (PMID = 17263592.001).
  • [ISSN] 1044-5498
  • [Journal-full-title] DNA and cell biology
  • [ISO-abbreviation] DNA Cell Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Cytoskeletal Proteins; 0 / Neurofibromin 2; 0 / Retinoblastoma Protein; 0 / Tumor Suppressor Protein p53; 0 / ezrin; EC 3.4.24.- / Matrix Metalloproteinases; EC 3.6.4.12 / RecQ Helicases
  • [Number-of-references] 131
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15. Mahajan S, Juneja M, George T: Osteosarcoma as a second neoplasm after chemotherapeutic treatment of hereditary retinoblastoma: a case report. Quintessence Int; 2008 May;39(5):439-45
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  • [Title] Osteosarcoma as a second neoplasm after chemotherapeutic treatment of hereditary retinoblastoma: a case report.
  • Osteosarcoma is the most common second neoplasm in patients with retinoblastoma.
  • The risk of occurrence of second neoplasm after retinoblastoma increases after radiotherapy and chemotherapy.
  • Further investigations revealed no history of retinoblastoma in the family. (This case was considered hereditary, however, because of the occurrence of the second neoplasm.
  • ) To the best of our knowledge, this is the first case of mandibular osteosarcoma occurring after unilateral retinoblastoma treated with chemotherapy.
  • [MeSH-major] Mandibular Neoplasms / chemically induced. Neoplasms, Second Primary / chemically induced. Osteosarcoma / chemically induced. Retinoblastoma / drug therapy
  • [MeSH-minor] Antineoplastic Combined Chemotherapy Protocols / adverse effects. Child. Cyclophosphamide / adverse effects. Female. Humans. Neoplasm Recurrence, Local. Vincristine / adverse effects

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  • (PMID = 19088959.001).
  • [ISSN] 1936-7163
  • [Journal-full-title] Quintessence international (Berlin, Germany : 1985)
  • [ISO-abbreviation] Quintessence Int
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 5J49Q6B70F / Vincristine; 8N3DW7272P / Cyclophosphamide
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16. Weintraub M, Revel-Vilk S, Charit M, Aker M, Pe'er J: Secondary acute myeloid leukemia after etoposide therapy for retinoblastoma. J Pediatr Hematol Oncol; 2007 Sep;29(9):646-8
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  • [Title] Secondary acute myeloid leukemia after etoposide therapy for retinoblastoma.
  • Retinoblastoma is the most common eye tumor in children and is highly curable.
  • Patients with hereditary retinoblastoma, have an increased risk of developing additional tumors, predominantly sarcomas.
  • Most chemotherapy regimens used in retinoblastoma include etoposide, an epipodophyllotoxin associated with a risk of secondary myeloid leukemia.
  • The use of etoposide in patients with a cancer predisposition syndrome such as retinoblastoma is potentially harmful, however, reports of secondary acute myeloid leukemia in patients treated with etoposide for retinoblastoma are rare.
  • We report a case of a patient who developed secondary acute myeloid leukemia after etoposide treatment for retinoblastoma.
  • [MeSH-major] Antineoplastic Agents, Phytogenic / adverse effects. Etoposide / adverse effects. Leukemia, Myeloid / chemically induced. Leukemia, Myeloid / diagnosis. Retinal Neoplasms / drug therapy. Retinoblastoma / drug therapy
  • [MeSH-minor] Acute Disease. Female. Humans. Infant. Treatment Outcome

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  • [ErratumIn] J Pediatr Hematol Oncol. 2007 Oct;29(10):728. Pèer, Jacob [corrected to Pe'er, Jacob]
  • (PMID = 17805043.001).
  • [ISSN] 1077-4114
  • [Journal-full-title] Journal of pediatric hematology/oncology
  • [ISO-abbreviation] J. Pediatr. Hematol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antineoplastic Agents, Phytogenic; 6PLQ3CP4P3 / Etoposide
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17. Escalona-Benz E, Jockovich ME, Murray TG, Hayden B, Hernandez E, Feuer W, Windle JJ: Combretastatin A-4 prodrug in the treatment of a murine model of retinoblastoma. Invest Ophthalmol Vis Sci; 2005 Jan;46(1):8-11
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  • [Title] Combretastatin A-4 prodrug in the treatment of a murine model of retinoblastoma.
  • PURPOSE: To evaluate the effect of subconjunctival injections of combretastatin A-4 phosphate (CA-4P) prodrug treatment on tumor vasculature and growth in an animal model of hereditary retinoblastoma.
  • Six control animals received placebo treatment.
  • CONCLUSIONS: Subconjunctival delivery of CA-4P is associated with extensive dose-dependent reduction in blood vessel count in this murine model of retinoblastoma.
  • A combination treatment of retinoblastoma incorporating CA-4P may allow enhanced tumor reduction enabling a decrease in standard treatment doses of both chemotherapy and external beam radiotherapy.
  • [MeSH-major] Antineoplastic Agents / therapeutic use. Disease Models, Animal. Neovascularization, Pathologic / drug therapy. Prodrugs / therapeutic use. Retinal Neoplasms / blood supply. Retinoblastoma / blood supply. Stilbenes / therapeutic use
  • [MeSH-minor] Animals. Antigens, Polyomavirus Transforming. Conjunctiva. Dose-Response Relationship, Drug. Injections. Mice. Mice, Transgenic

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  • (PMID = 15623747.001).
  • [ISSN] 0146-0404
  • [Journal-full-title] Investigative ophthalmology & visual science
  • [ISO-abbreviation] Invest. Ophthalmol. Vis. Sci.
  • [Language] eng
  • [Grant] United States / NEI NIH HHS / EY / P30-EY014801; United States / NEI NIH HHS / EY / R01 EY013629
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antigens, Polyomavirus Transforming; 0 / Antineoplastic Agents; 0 / Prodrugs; 0 / Stilbenes; I5590ES2QZ / fosbretabulin
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18. Schüler AO, Bornfeld N: [Current therapy aspects of intraocular tumors]. Ophthalmologe; 2000 Mar;97(3):207-22
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  • [Title] [Current therapy aspects of intraocular tumors].
  • The most frequent primary intraocular malignancies are uveal melanoma in adults and retinoblastoma in children.
  • New treatment modalities like endo-resection, trans-scleral resection, proton beam irradiation and trans-pupillary thermotherapy are now being established in clinical routine.
  • Management of retinoblastoma has changed during the last years considerably.
  • In hereditary retinoblastoma external beam radiotherapy (EBR) results in a sixfold increased risk for the development of secondary, non ocular malignant tumors in these patients.
  • New treatment regimens based on systemic chemotherapy were developed to replace EBR.
  • In combination with chemotherapy there has been a continuing trend toward more conservative focal treatment for retinoblastoma.
  • Indications and first results of these new treatment modalities are presented.
  • [MeSH-major] Ciliary Body. Melanoma / therapy. Retinal Neoplasms / therapy. Retinoblastoma / therapy. Uveal Neoplasms / therapy
  • [MeSH-minor] Adult. Antineoplastic Agents / therapeutic use. Brachytherapy. Child. Clinical Trials as Topic. Combined Modality Therapy. Diagnosis, Differential. Eye Enucleation. Female. Fluorescein Angiography. Humans. Hyperthermia, Induced. Infant. Light Coagulation. Male. Middle Aged. Ophthalmoscopy. Radiotherapy Dosage

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  • (PMID = 10789180.001).
  • [ISSN] 0941-293X
  • [Journal-full-title] Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
  • [ISO-abbreviation] Ophthalmologe
  • [Language] ger
  • [Publication-type] Comparative Study; English Abstract; Journal Article; Review
  • [Publication-country] GERMANY
  • [Chemical-registry-number] 0 / Antineoplastic Agents
  • [Number-of-references] 61
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19. Tokatli F, Alas RC, Altaner S, Pala F, Uygun K, Uzal C, Yalniz E: [An analysis of genetic transmission in a father and son with osteosarcoma]. Acta Orthop Traumatol Turc; 2006;40(5):407-10
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  • Familial osteosarcoma is a rare hereditary disease.
  • We present a 37-year-old father and a 17-year-old son who developed osteosarcoma in the left and right distal femurs, respectively, at a three-year interval.
  • They were treated with chemotherapy followed by surgery.
  • The son also exhibited deletion of the retinoblastoma 1 gene.
  • Pulmonary metastasis was detected in the father at the time of diagnosis and 13 months after primary treatment, whereas no distant metastasis was present in the child.
  • The father died 39 months after the diagnosis from primary symptoms, but the son led a disease-free survival a year after completion of treatment.
  • [MeSH-minor] Adolescent. Adult. Combined Modality Therapy. Diagnosis, Differential. Humans. Male. Pedigree. Receptor, ErbB-2 / genetics. Tumor Suppressor Protein p53 / genetics

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  • (PMID = 17220652.001).
  • [ISSN] 1017-995X
  • [Journal-full-title] Acta orthopaedica et traumatologica turcica
  • [ISO-abbreviation] Acta Orthop Traumatol Turc
  • [Language] tur
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Turkey
  • [Chemical-registry-number] 0 / Tumor Suppressor Protein p53; EC 2.7.10.1 / Receptor, ErbB-2
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20. Aerts I, Lumbroso-Le Rouic L, Gauthier-Villars M, Brisse H, Doz F, Desjardins L: Retinoblastoma. Orphanet J Rare Dis; 2006;1:31
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  • [Title] Retinoblastoma.
  • Retinoblastoma is a rare eye tumor of childhood that arises in the retina.
  • The two most frequent symptoms revealing retinoblastoma are leukocoria and strabismus.
  • Sixty per cent of retinoblastomas are unilateral and most of these forms are not hereditary (median age at diagnosis two years).
  • Retinoblastoma is bilateral in 40% of cases (median age at diagnosis one year).
  • All bilateral and multifocal unilateral forms are hereditary.
  • Hereditary retinoblastoma constitutes a cancer predisposition syndrome: a subject constitutionally carrying an RB1 gene mutation has a greater than 90% risk of developing retinoblastoma but is also at increased risk of developing other types of cancers.
  • Ultrasound, magnetic resonance imaging (MRI) and computed tomography (CT) scans may contribute to diagnosis.
  • Management of patients with retinoblastoma must take into account the various aspects of the disease: the visual risk, the possibly hereditary nature of the disease, the life-threatening risk.
  • Enucleation is still often necessary in unilateral disease; the decision for adjuvant treatment is taken according to the histological risk factors.
  • Conservative treatment for at least one eye is possible in most of the bilateral cases.
  • It includes laser alone or combined with chemotherapy, cryotherapy and brachytherapy.
  • Vital prognosis, related to retinoblastoma alone, is now excellent in patients with unilateral or bilateral forms of retinoblastoma.
  • Long term follow-up and early counseling regarding the risk of second primary tumors and transmission should be offered to retinoblastoma patients.
  • [MeSH-major] Retinal Neoplasms / diagnosis. Retinal Neoplasms / therapy. Retinoblastoma / diagnosis. Retinoblastoma / therapy
  • [MeSH-minor] Child, Preschool. Diagnosis, Differential. Eye Diseases / diagnosis. Female. Humans. Infant. Pregnancy. Prenatal Diagnosis / methods. Prognosis. Rare Diseases. Retinoblastoma Protein / genetics

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  • (PMID = 16934146.001).
  • [ISSN] 1750-1172
  • [Journal-full-title] Orphanet journal of rare diseases
  • [ISO-abbreviation] Orphanet J Rare Dis
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Retinoblastoma Protein
  • [Number-of-references] 56
  • [Other-IDs] NLM/ PMC1586012
  • [General-notes] NLM/ Original DateCompleted: 20070719
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21. Pinarli FG, Oğuz A, Karadeniz C, Uluoğlu O, Akyürek N: Second primary myogenic sarcoma in a patient with bilateral retinoblastoma. Pediatr Hematol Oncol; 2004 Sep;21(6):545-50
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Second primary myogenic sarcoma in a patient with bilateral retinoblastoma.
  • Retinoblastoma is the primary ocular malignancy affecting children under 6 years of age.
  • The development of second malignant tumors in survivors of hereditary retinoblastoma is a well-known clinical entity and a major cause of morbidity and mortality.
  • The authors report a patient with bilateral retinoblastoma who developed a myogenic sarcoma of the orbit after 5.5 years of diagnosis.
  • The short latency period may be explained by tumor histology with the contribution of radiotherapy and chemotherapy.
  • The prognosis of second tumors is poor despite aggressive treatment.
  • [MeSH-major] Eye Neoplasms / pathology. Neoplasms, Second Primary / pathology. Retinoblastoma / pathology. Rhabdomyosarcoma / pathology

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  • (PMID = 15552818.001).
  • [ISSN] 0888-0018
  • [Journal-full-title] Pediatric hematology and oncology
  • [ISO-abbreviation] Pediatr Hematol Oncol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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22. Aerts I, Pacquement H, Doz F, Mosseri V, Desjardins L, Sastre X, Michon J, Rodriguez J, Schlienger P, Zucker JM, Quintana E: Outcome of second malignancies after retinoblastoma: a retrospective analysis of 25 patients treated at the Institut Curie. Eur J Cancer; 2004 Jul;40(10):1522-9
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  • [Title] Outcome of second malignancies after retinoblastoma: a retrospective analysis of 25 patients treated at the Institut Curie.
  • Retinoblastoma is usually curable in developed countries.
  • The morbidity and mortality of patients with hereditary retinoblastoma is still threatened by the occurrence of secondary tumours.
  • Between 1971 and 1988, 427 patients with retinoblastoma were treated in the ophthalmologic, paediatric and radiotherapy departments of the Institut Curie.
  • In this study, we report the clinical and therapeutic features and the outcome of 25 patients treated for a second malignant neoplasm, diagnosed between 1997 and 1999 at the Institut Curie.
  • The median time interval between the diagnosis of retinoblastoma and SMN was 11.2 years (range 3.8-20.6 years).
  • Histopathological diagnoses included: 12 osteosarcomas, 12 soft tissue sarcomas and, 1 malignant oligodendroglioma.
  • Twenty three patients received pre-operative chemotherapy.
  • Post-operative chemotherapy was administered in 12 patients and external beam radiotherapy was used in 2 patients.
  • Response to treatment was evaluable in 24 patients: complete remissions were observed in 14/24, partial remissions in 2/24 and progressive disease in 8/24.
  • Despite aggressive therapy, the prognosis of patients with second malignant neoplasm occurring after retinoblastoma is very poor.
  • It is important to provide information to retinoblastoma patients regarding the risk of a second tumour as this may facilitate an early tumour detection.
  • [MeSH-major] Neoplasms, Second Primary / mortality. Retinal Neoplasms / mortality. Retinoblastoma / mortality
  • [MeSH-minor] Child, Preschool. Combined Modality Therapy / methods. Combined Modality Therapy / mortality. Disease-Free Survival. Female. Humans. Infant. Male. Postoperative Care / methods. Postoperative Care / mortality. Preoperative Care / methods. Preoperative Care / mortality. Prognosis. Retrospective Studies. Risk Factors. Survival Analysis

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  • (PMID = 15196536.001).
  • [ISSN] 0959-8049
  • [Journal-full-title] European journal of cancer (Oxford, England : 1990)
  • [ISO-abbreviation] Eur. J. Cancer
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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23. Liang SX, Lakshmanan Y, Woda BA, Jiang Z: A high-grade primary leiomyosarcoma of the bladder in a survivor of retinoblastoma. Arch Pathol Lab Med; 2001 Sep;125(9):1231-4
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  • [Title] A high-grade primary leiomyosarcoma of the bladder in a survivor of retinoblastoma.
  • Second nonocular malignancies develop with increased incidence in patients with hereditary retinoblastoma.
  • Osteosarcoma is by far the most common type with an incidence of up to 50%, followed by soft tissue sarcomas.
  • Visceral leiomyosarcoma is extremely rare and only 2 cases have been reported in the past 2 decades, one in the liver and another one in the urinary bladder, both of which developed after cyclophosphamide therapy.
  • Here we report a case of vesical leiomyosarcoma that was diagnosed in a 49-year-old woman 47 years after the diagnosis of a hereditary retinoblastoma.
  • The patient's retinoblastoma was treated with unilateral enucleation without adjuvant radiation or chemotherapy.
  • We believe that this is the first report of vesical leiomyosarcoma occurring in a patient with retinoblastoma without a prior history of radiation or chemotherapy.
  • This report is significant not only because of the rarity of vesical leiomyosarcoma as a second nonocular tumor in retinoblastoma patients, but also because of the infrequency of vesical leiomyosarcoma in general.
  • [MeSH-major] Eye Neoplasms / surgery. Leiomyosarcoma / pathology. Neoplasms, Second Primary / pathology. Retinoblastoma / surgery. Urinary Bladder Neoplasms / pathology
  • [MeSH-minor] Actins / analysis. Adult. Cyclin D1 / analysis. Cystectomy. Desmin / analysis. Female. Hematuria / etiology. Humans. Hysterectomy. Ovariectomy. Retinoblastoma Protein / analysis. Survivors. Tomography, X-Ray Computed. Tumor Suppressor Protein p53 / analysis

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  • (PMID = 11520280.001).
  • [ISSN] 0003-9985
  • [Journal-full-title] Archives of pathology & laboratory medicine
  • [ISO-abbreviation] Arch. Pathol. Lab. Med.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Actins; 0 / Desmin; 0 / Retinoblastoma Protein; 0 / Tumor Suppressor Protein p53; 136601-57-5 / Cyclin D1
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24. Beck Popovic M, Balmer A, Maeder P, Braganca T, Munier FL: Benign pineal cysts in children with bilateral retinoblastoma: a new variant of trilateral retinoblastoma? Pediatr Blood Cancer; 2006 Jun;46(7):755-61
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  • [Title] Benign pineal cysts in children with bilateral retinoblastoma: a new variant of trilateral retinoblastoma?
  • PURPOSE: Patients with hereditary retinoblastoma (Rb) develop in 4%-8% a malignant midline tumor called trilateral Rb (TRb).
  • Treatment included enucleation, local treatment with cryotherapy or photocoagulation, first-line chemotherapy (CT), thermo-chemotherapy (TCT), Ruthenium plaque, and, rarely, external beam radiation (EBR).
  • CONCLUSIONS: This report describes benign cystic lesions of the pineal gland in patients with hereditary Rb, suggesting a benign variant of TRb.
  • [MeSH-major] Central Nervous System Cysts / etiology. Central Nervous System Cysts / pathology. Pineal Gland. Retinal Neoplasms / complications. Retinoblastoma / complications
  • [MeSH-minor] Brain Neoplasms / etiology. Brain Neoplasms / pathology. Child, Preschool. Humans. Infant. Magnetic Resonance Imaging. Pinealoma / etiology. Pinealoma / pathology. Prognosis. Switzerland / epidemiology. Tomography, X-Ray Computed

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  • [Copyright] (c) 2005 Wiley-Liss, Inc.
  • (PMID = 16003734.001).
  • [ISSN] 1545-5009
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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25. Doz F: [Retinoblatoma: a review]. Arch Pediatr; 2006 Oct;13(10):1329-37
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  • Retinoblastoma is the most frequent eye tumor in children, with an incidence of 1/15 000 births.
  • Sixty per cent are unilateral: the median age at diagnosis is 2 years and most of these forms are not hereditary.
  • Retinoblastoma is bilateral in 40%: the median age at diagnosis is 1 year.
  • All bilateral and multifocal unilateral forms are hereditary.
  • Hereditary retinoblastoma constitutes a cancer predisposition syndrome: a subject carrying a constitutional RB1 gene mutation has a greater than 90% risk of developing retinoblastoma, but is also at increased risk of developing secondary cancers.
  • Management of patients with retinoblastoma must take into account the various aspects of the disease: the visual risk, the possibly hereditary nature of the disease and the life-threatening risk.
  • Enucleation is still often necessary in unilateral disease; adjuvant treatment is decided according to the histological risk factors.
  • Conservative treatment of at least 1 eye is possible in most of the bilateral cases: laser alone or combined with chemotherapy, cryotherapy and brachytherapy.
  • Long-term follow-up and early information to retinoblastoma patients regarding the risk of second primary tumors and transmission is actually important.
  • [MeSH-major] Retinal Neoplasms / diagnosis. Retinal Neoplasms / therapy. Retinoblastoma / diagnosis. Retinoblastoma / therapy

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  • (PMID = 16930963.001).
  • [ISSN] 0929-693X
  • [Journal-full-title] Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
  • [ISO-abbreviation] Arch Pediatr
  • [Language] fre
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] France
  • [Number-of-references] 38
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26. Laville I, Pigaglio S, Blais JC, Doz F, Loock B, Maillard P, Grierson DS, Blais J: Photodynamic efficiency of diethylene glycol-linked glycoconjugated porphyrins in human retinoblastoma cells. J Med Chem; 2006 Apr 20;49(8):2558-67
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  • [Title] Photodynamic efficiency of diethylene glycol-linked glycoconjugated porphyrins in human retinoblastoma cells.
  • Photodynamic therapy (PDT) is emerging as a new strategy for the conservative treatment of hereditary retinoblastoma.
  • The glycoconjugated porphyrins TPP(p-Deg-O-alpha-GalOH)(3), TPP(p-Deg-O-beta-GalOH)(3), TPP(p-Deg-O-alpha-ManOH)(3), and their S-analogues were synthesized to obtain efficient photosensitizers with some retinoblastoma cell affinity.
  • Cellular uptake, localization, and photoactivity have been examined in human retinoblastoma cells (Y79).
  • [MeSH-major] Ethylene Glycols / chemistry. Galactosides / pharmacology. Photochemotherapy / methods. Photosensitizing Agents / pharmacology. Porphyrins / pharmacology. Retinoblastoma / drug therapy
  • [MeSH-minor] Animals. Carbohydrate Conformation. Carbohydrate Sequence. Cell Line, Tumor. Cell Survival / drug effects. Cell Survival / physiology. Drug Screening Assays, Antitumor. Glycosylation. Humans. In Vitro Techniques. Mice. Molecular Sequence Data. Molecular Structure. Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization. Structure-Activity Relationship

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  • (PMID = 16610799.001).
  • [ISSN] 0022-2623
  • [Journal-full-title] Journal of medicinal chemistry
  • [ISO-abbreviation] J. Med. Chem.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / 5,10,15-tri(4-O-(2-(2-(2-O-galactosyloxy)ethoxy)ethoxy)phenyl)-20-phenylporphyrin; 0 / 5,10,15-tri(4-O-(2-(2-(2-mannosyloxy)ethoxy)ethoxy)phenyl)-20-phenylporphyrin; 0 / Ethylene Glycols; 0 / Galactosides; 0 / Photosensitizing Agents; 0 / Porphyrins; 61BR964293 / diethylene glycol
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27. Nishimura S, Sato T, Ueda H, Ueda K: Acute myeloblastic leukemia as a second malignancy in a patient with hereditary retinoblastoma. J Clin Oncol; 2001 Nov 01;19(21):4182-3
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  • [Title] Acute myeloblastic leukemia as a second malignancy in a patient with hereditary retinoblastoma.
  • [MeSH-major] Antineoplastic Agents, Phytogenic / adverse effects. Etoposide / adverse effects. Leukemia, Myeloid, Acute / chemically induced. Neoplasms, Second Primary / chemically induced. Retinal Neoplasms / drug therapy. Retinoblastoma / drug therapy
  • [MeSH-minor] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Carboplatin / administration & dosage. Female. Humans. Infant

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  • [CommentOn] J Clin Oncol. 2000 Aug;18(15):2881-7 [10920136.001]
  • [CommentOn] J Clin Oncol. 1997 Apr;15(4):1583-6 [9193356.001]
  • (PMID = 11689590.001).
  • [ISSN] 0732-183X
  • [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] Case Reports; Comment; Letter
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antineoplastic Agents, Phytogenic; 6PLQ3CP4P3 / Etoposide; BG3F62OND5 / Carboplatin
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