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[Title] Identification of CD133-positive radioresistant cells in atypical teratoid/rhabdoid tumor.

Atypical teratoid/rhabdoid tumor (AT/RT) is an extremely malignant neoplasm in the central nervous system (CNS) which occurs in infancy and childhood.

[MeSH-major] Antigens, CD / immunology. Glycoproteins / immunology. Peptides / immunology. Radiation Tolerance. Rhabdoid Tumor / diagnosis

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(PMID = 18509505.001).

[ISSN] 1932-6203

[Journal-full-title] PloS one

[ISO-abbreviation] PLoS ONE

[Language] eng

[Publication-type] Journal Article; Research Support, Non-U.S. Gov't

[Publication-country] United States

[Chemical-registry-number] 0 / AC133 antigen; 0 / Antigens, CD; 0 / Glycoproteins; 0 / Peptides; 0 / Proto-Oncogene Proteins c-bcl-2; 0 / RNA, Small Interfering

[Other-IDs] NLM/ PMC2396792

   

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[Title] Atypical teratoid/rhabdoid tumor of the central nervous system associated with congenital cataract.

Atypical teratoid /rhabdoid tumor (AT/RT) of the central nervous system is a rare but highly aggressive neoplasm that usually affects young children and infants and follows a rapidly fatal course.

[MeSH-major] Central Nervous System Neoplasms / diagnosis. Central Nervous System Neoplasms / pathology. Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / pathology. Teratoma / diagnosis. Teratoma / pathology

[MeSH-minor] Cataract / complications. Cataract / congenital. Central Nervous System / pathology. Fatal Outcome. Humans. Infant. Male

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(PMID = 18723966.001).

[ISSN] 0377-4929

[Journal-full-title] Indian journal of pathology & microbiology

[ISO-abbreviation] Indian J Pathol Microbiol

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] India

   

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[Title] Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta-analysis of observational studies.

PURPOSE: Therapy for central nervous system (CNS) atypical teratoid rhabdoid tumor (ATRT) is controversial.

RESULTS: The median OS for patients treated with multiagent chemotherapy (n=79) was 17.3 months (range, 1.5-93 mo); unrelated to age at diagnosis, sex, tumor site, and extent of resection.

Patients (n=30) treated with intrathecal (IT) chemotherapy had significantly higher 2-year OS [64% (95% confidence interval, 46.5-82.0) vs. 17.3% (95% confidence interval, 5.4-29.3); P<0.0001] and lower prevalence of distant CNS metastasis compared with those without IT therapy (n=49) (20% vs. 59.2%; P=0.001).

CONCLUSIONS: Despite dismal OS, multimodal therapy can induce remission even in metastatic CNS ATRT with partial resection.

[MeSH-major] Brain Neoplasms / epidemiology. Rhabdoid Tumor / epidemiology. Teratoma / epidemiology

[MeSH-minor] Adolescent. Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Child. Child, Preschool. Cisplatin / administration & dosage. Combined Modality Therapy. Craniotomy. Cyclophosphamide / administration & dosage. Dactinomycin / administration & dosage. Doxorubicin / administration & dosage. Etoposide / administration & dosage. Fatal Outcome. Female. Humans. Infant. Infant, Newborn. Injections, Spinal. Kaplan-Meier Estimate. Male. Prognosis. Prospective Studies. Spinal Neoplasms / diagnosis. Spinal Neoplasms / drug therapy. Spinal Neoplasms / epidemiology. Spinal Neoplasms / radiotherapy. Spinal Neoplasms / surgery. Treatment Outcome. Vincristine / administration & dosage

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(PMID = 19707161.001).

[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; Meta-Analysis

[Publication-country] United States

[Chemical-registry-number] 1CC1JFE158 / Dactinomycin; 5J49Q6B70F / Vincristine; 6PLQ3CP4P3 / Etoposide; 80168379AG / Doxorubicin; 8N3DW7272P / Cyclophosphamide; Q20Q21Q62J / Cisplatin

   

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[Title] Giant lumbar paraspinal atypical teratoid/rhabdoid tumor in a child.

Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive and uncommon tumor of the central nervous system, primarily affecting young children.

[MeSH-major] Rhabdoid Tumor / pathology. Spinal Neoplasms / pathology. Teratoma / pathology

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(PMID = 20160373.001).

[ISSN] 1998-4138

[Journal-full-title] Journal of cancer research and therapeutics

[ISO-abbreviation] J Cancer Res Ther

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] India

[Chemical-registry-number] 0 / Antineoplastic Agents

   

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[Title] Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis.

Atypical teratoid/rhabdoid tumors are malignant embryonal tumors characterized by the presence of rhabdoid cells, genetic alterations affecting the SMARCB1 gene (hSNF5/INI1), and a poor prognosis.

Whether INI1 plays a role in the pathogenesis of other central nervous system tumors is uncertain.

Histological and immunohistochemical features did not correspond to established tumor types, including atypical teratoid/rhabdoid tumors, medulloepithelioma, choroid plexus carcinoma, and ependymoma.

We suggest that cribriform neuroepithelial tumor (CRINET) is a nonrhabdoid ventricular tumor that shows loss of tumoral INI1 protein and has a relatively favorable prognosis.

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(PMID = 19915490.001).

[ISSN] 1554-6578

[Journal-full-title] Journal of neuropathology and experimental neurology

[ISO-abbreviation] J. Neuropathol. Exp. Neurol.

[Language] eng

[Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't

[Publication-country] United States

[Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors

   

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[Title] Antisense treatment of IGF-IR induces apoptosis and enhances chemosensitivity in central nervous system atypical teratoid/rhabdoid tumours cells.

Central nervous system (CNS) atypical teratoid/rhabdoid tumours (AT/RT) are among the paediatric malignant tumours with the worst prognosis and fatal outcome.

Moreover, we found IGF-I and IGF-II mRNA in BT-16 CNS AT/RT cells and IGF-II mRNA in BT-12 CNS AT/RT cells, and autophosphorylated IGF-IR in both cell lines, indicating the potential presence of an autocrine/paracrine IGF-I/II/IGF-IR loop in CNS AT/RT.

IGF-IR antisense oligonucleotide treatment of human CNS AT/RT cells resulted in significant down-regulation of IGF-IR mRNA and protein expression, induction of apoptosis, and chemosensitisation to doxorubicin and cisplatin.

These studies provide evidence for the influence of IGF-IR on cellular responses to chemotherapy and raise the possibility that curability of selected CNS AT/RT may be improved by pharmaceutical strategies directed towards the IGF-IR.

[MeSH-major] Apoptosis / drug effects. Central Nervous System Neoplasms / drug therapy. Oligoribonucleotides, Antisense / therapeutic use. Receptor, IGF Type 1 / drug effects. Rhabdoid Tumor / drug therapy. Teratoma / drug therapy

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(PMID = 17446062.001).

[ISSN] 0959-8049

[Journal-full-title] European journal of cancer (Oxford, England : 1990)

[ISO-abbreviation] Eur. J. Cancer

[Language] eng

[Publication-type] Journal Article; Research Support, Non-U.S. Gov't

[Publication-country] England

[Chemical-registry-number] 0 / Antineoplastic Agents; 0 / Oligoribonucleotides, Antisense; 67763-96-6 / Insulin-Like Growth Factor I; 80168379AG / Doxorubicin; EC 2.7.10.1 / Receptor, IGF Type 1; Q20Q21Q62J / Cisplatin

   

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[Title] Atypical teratoid/rhabdoid tumor involving cerebrospinal fluid: a case report.

BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare, aggressive tumor of the central nervous system.

It is important for pathologists to recognize the cytomorphologic features of AT/RT in the CSF of patients with this tumor to help determine prognosis and disease progression.

[MeSH-major] Rhabdoid Tumor / cerebrospinal fluid. Rhabdoid Tumor / pathology. Spinal Neoplasms / cerebrospinal fluid. Spinal Neoplasms / pathology. Teratoma / cerebrospinal fluid. Teratoma / pathology

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(PMID = 21053577.001).

[ISSN] 0001-5547

[Journal-full-title] Acta cytologica

[ISO-abbreviation] Acta Cytol.

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] United States

   

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[Title] Diffusion-weighted imaging of an atypical teratoid/rhabdoid tumor of the cervical spine.

Spinal atypical teratoid/rhabdoid tumor (AT/RT) is a rare, aggressive malignant neoplasm of the central nervous system usually seen in young children and infants.

High signal on DWI and low apparent diffusion coefficients may represent high cellularity of the tumor.

These findings indicated a highly malignant tumor.

[MeSH-major] Cervical Vertebrae. Diffusion Magnetic Resonance Imaging / methods. Rhabdoid Tumor / pathology. Spinal Cord Neoplasms / pathology. Teratoma / pathology

[MeSH-minor] Child. Diagnosis, Differential. Humans. Immunohistochemistry. Male

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(PMID = 19783876.001).

[ISSN] 1880-2206

[Journal-full-title] Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine

[ISO-abbreviation] Magn Reson Med Sci

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Japan

   

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[Title] Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: Lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype.

Immunohistochemical lack of nuclear INI1 protein expression has been recently described as characteristic finding in atypical teratoid/rhabdoid tumors (AT/RTs), and has been suggested as useful marker to distinguish AT/RTs from other malignant pediatric central nervous system (CNS) tumors.

In this study, we examined a large series of malignant pediatric CNS tumors to determine the immunohistochemical expression of INI1 protein in different malignant pediatric tumor entities.

Archival paraffin-embedded biopsy specimens of 289 malignant pediatric CNS tumors including medulloblastomas, supratentorial primitive neuroectodermal tumors, glioblastomas, anaplastic astrocytomas, anaplastic ependymomas, choroid plexus carcinomas, germ cell tumors, and AT/RTs were analyzed immunohistochemically for expression of nuclear INI1 protein.

Seventeen of the 26 tumors showed morphologically characteristic features of AT/RTs, whereas 9 embryonal tumors did not display rhabdoid features.

Tumors without rhabdoid phenotype but lack of INI1 showed an aggressive clinical course and poor response to conventional treatment regimens.

Furthermore, a certain number of embryonal tumors without rhabdoid features but lack of INI1 protein and aggressive biologic behavior can be detected.

We conclude that INI1 protein analysis should be routinely performed in all malignant pediatric embryonal CNS tumors to detect cases with lack of INI1 protein, because patients with these tumors are likely to benefit from intensified treatment.

[MeSH-major] Biomarkers, Tumor / analysis. Brain Neoplasms / metabolism. Chromosomal Proteins, Non-Histone / metabolism. DNA-Binding Proteins / metabolism. Neuroectodermal Tumors, Primitive / metabolism. Rhabdoid Tumor / metabolism. Teratoma / metabolism. Transcription Factors / metabolism

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(PMID = 17063089.001).

[ISSN] 0147-5185

[Journal-full-title] The American journal of surgical pathology

[ISO-abbreviation] Am. J. Surg. Pathol.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

[Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors

   

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[Title] Comparative analysis of germ cell transcription factors in CNS germinoma reveals diagnostic utility of NANOG.

To assess the diagnostic utility of NANOG in central nervous system (CNS) germ cell tumors, we analyzed its expression by immunohistochemistry in a series of 12 CNS germinomas and compared its expression with other stem cell markers.

Strong nuclear expression of NANOG was demonstrated in >90% of the tumor cells in all cases.

NANOG was not detected in tumor types frequently considered in the differential diagnosis of CNS germinoma: pineoblastoma, primitive neuroectodermal tumors, medulloblastoma, lymphoma, pituitary adenoma, atypical teratoid/rhabdoid tumor, Langerhans cell histiocytosis, and gliomas.

These findings demonstrate that NANOG is a sensitive and specific marker of CNS germinoma.

These findings also suggest a potential biologic role for NANOG in maintenance of CNS germinoma.

[MeSH-minor] Adolescent. Adult. Alkaline Phosphatase / metabolism. Biomarkers, Tumor / metabolism. Cell Nucleus / metabolism. Child. HMGB Proteins / metabolism. Humans. Isoenzymes / metabolism. Octamer Transcription Factor-3 / metabolism. SOXB1 Transcription Factors. Transcription Factors / metabolism

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(PMID = 17122519.001).

[ISSN] 0147-5185

[Journal-full-title] The American journal of surgical pathology

[ISO-abbreviation] Am. J. Surg. Pathol.

[Language] eng

[Grant] United States / NINDS NIH HHS / NS / NS047213

[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 / Biomarkers, Tumor; 0 / DNA-Binding Proteins; 0 / HMGB Proteins; 0 / Homeodomain Proteins; 0 / Isoenzymes; 0 / NANOG protein, human; 0 / Octamer Transcription Factor-3; 0 / POU5F1 protein, human; 0 / SOX2 protein, human; 0 / SOXB1 Transcription Factors; 0 / Transcription Factors; 0 / germ-cell AP isoenzyme; EC 3.1.3.1 / Alkaline Phosphatase

   

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[Title] Ultrastructural evidence of ependymal differentiation in a genetically proven atypical teratoid/rhabdoid tumor.

INTRODUCTION: We describe a case of genetically proven atypical teratoid/rhabdoid tumor (ATRT), showing ultrastructural evidence of ependymal differentiation.

CONCLUSION: This finding supports the concept that ATRTs as the majority of central nervous system embryonal tumors may derive from an immature and pluripotent neuroectodermal cell capable of differentiating along multiple lineages.

[MeSH-major] Cerebral Ventricle Neoplasms / ultrastructure. Ependyma / ultrastructure. Rhabdoid Tumor / ultrastructure. Teratoma / ultrastructure

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(PMID = 19554334.001).

[ISSN] 1433-0350

[Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

[ISO-abbreviation] Childs Nerv Syst

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Germany

   

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[Title] Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior.

Renal medullary carcinoma is a rare, well-recognized highly aggressive tumor of varied histopathology, which occurs in young patients with sickle cell trait or disease.

Rhabdoid elements, occasionally seen in high-grade renal tumors including renal medullary carcinoma, possibly represent a pathologic marker of aggressive behavior.

Loss of this factor in mice results in aggressive rhabdoid tumors or lymphomas.

In humans, the loss of INI1 expression has been reported in pediatric renal rhabdoid tumors, central nervous system atypical teratoid/rhabdoid tumors and epithelioid sarcomas, a possible primary soft tissue rhabdoid tumor.

This study compares five renal medullary carcinomas with 10 high-grade renal cell carcinomas (five with rhabdoid features), two urothelial carcinomas and two pediatric renal rhabdoid tumors.

All five renal medullary carcinomas, irrespective of histopathology, showed complete loss of INI1 expression similar to that seen in pediatric renal rhabdoid tumors.

In contrast, all renal cell carcinomas or urothelial carcinomas, including those with histological rhabdoid features, expressed INI1.

Clinically, all five of the patients with renal medullary carcinoma and the two patients with rhabdoid tumors presented with extra-renal metastases at the time of diagnosis.

This study demonstrates that renal medullary carcinoma and renal rhabdoid tumor share a common molecular/genetic alteration, which is closely linked to their aggressive biological behavior.

However, the absence of INI1 expression is not necessarily predictive of rhabdoid histopathology but remains associated with aggressive behavior in renal medullary carcinoma.

[MeSH-major] Biomarkers, Tumor / analysis. Carcinoma, Renal Cell / pathology. Chromosomal Proteins, Non-Histone / biosynthesis. DNA-Binding Proteins / biosynthesis. Kidney Neoplasms / pathology. Rhabdoid Tumor / pathology. Transcription Factors / biosynthesis

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(PMID = 18327209.001).

[ISSN] 0893-3952

[Journal-full-title] Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

[ISO-abbreviation] Mod. Pathol.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

[Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors

   

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BACKGROUND/AIMS: Medulloblastomas (MBs), atypical teratoid rhabdoid tumors (AT/RTs) and central nervous system primitive neuroectodermal tumors (PNETs) are aggressive embryonal brain neoplasms in children with overlapping histological features but with different pathogenetic pathways.

The immunohistochemical expression of EGFR and HER-2 was correlated to histology, expression of the Ki-67/MIB-1 proliferative index, p53 tumor suppressor oncoprotein and prognosis.

[MeSH-minor] Adolescent. Child. Child, Preschool. Female. Follow-Up Studies. Humans. Infant. Infant, Newborn. Ki-67 Antigen / metabolism. Male. Prognosis. Retrospective Studies. Risk Factors. Tumor Suppressor Protein p53 / metabolism

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[Copyright] Copyright © 2010 S. Karger AG, Basel.

(PMID = 20962551.001).

[ISSN] 1423-0305

[Journal-full-title] Pediatric neurosurgery

[ISO-abbreviation] Pediatr Neurosurg

[Language] eng

[Publication-type] Journal Article

[Publication-country] Switzerland

[Chemical-registry-number] 0 / Ki-67 Antigen; 0 / TP53 protein, human; 0 / Tumor Suppressor Protein p53; EC 2.7.10.1 / EGFR protein, human; EC 2.7.10.1 / ERBB2 protein, human; EC 2.7.10.1 / Receptor, Epidermal Growth Factor; EC 2.7.10.1 / Receptor, ErbB-2

   

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[Title] Atypical teratoid/rhabdoid tumor in an infant conceived by in vitro fertilization.

BACKGROUND: Atypical teratoid/rhabdoid tumor (ATsRT) is a rare tumor and extremely aggressive embryonal neoplasm of the central nervous system.

[MeSH-major] Brain Neoplasms / pathology. Diseases in Twins / pathology. Fertilization in Vitro. Rhabdoid Tumor / pathology. Teratoma / pathology

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(PMID = 19937253.001).

[ISSN] 1433-0350

[Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

[ISO-abbreviation] Childs Nerv Syst

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Germany

   

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[Title] A child with atypical teratoid/rhabdoid tumour of the posterior cranial fossa.

Primary central nervous system (CNS) atypical teratoid/rhabdoid tumours (ATRT) are highly malignant neoplasms which usually present in infancy or early childhood.

Although ATRT may arise anywhere within the CNS, the majority (approximately two-thirds) arise in the cerebellum or posterior fossa, and the remainder in the cerebrum.

We described the imaging characteristics of CNS ATRT in the posterior cranial fossa of a 14-month-old boy.

[MeSH-major] Cranial Fossa, Posterior. Rhabdoid Tumor / diagnosis. Skull Base Neoplasms / diagnosis. Teratoma / diagnosis

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(PMID = 19122937.001).

[ISSN] 0037-5675

[Journal-full-title] Singapore medical journal

[ISO-abbreviation] Singapore Med J

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Singapore

   

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[Title] Atypical teratoid/rhabdoid tumors: imaging findings of two cases and review of the literature.

Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant embryonal central nervous system (CNS) tumor, manifesting in children, and composed of rhabdoid cells, with or without fields resembling a classical primitive neuroectodermal tumor (PNET), epithelial tissue and neoplastic mesenchyme.

Around 200 cases of CNS AT/RT have been documented in the literature.

Although the clinical and pathological findings have been defined in large series previously, and AT/RT has become increasingly recognized, awareness of typical AT/RT is important in making the correct diagnosis of this uncommon but probably underdiagnosed entity.

Neuroradiologists rarely mention AT/RT in their differential diagnosis and this paper presents two additional cases in which clinical and pathological findings are combined with neuroradiological presentation.

[MeSH-major] Brain Neoplasms / pathology. Magnetic Resonance Imaging. Rhabdoid Tumor / pathology. Teratoma / pathology

[MeSH-minor] Child. Diagnosis, Differential. Fatal Outcome. Female. Humans. Infant. Male. Tomography, X-Ray Computed

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(PMID = 18382974.001).

[ISSN] 1019-5149

[Journal-full-title] Turkish neurosurgery

[ISO-abbreviation] Turk Neurosurg

[Language] eng

[Publication-type] Case Reports; Journal Article; Review

[Publication-country] Turkey

[Number-of-references] 18

   

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[Title] Mouse models of CNS embryonal tumors.

Central nervous system (CNS) embryonal tumors are devastating cancers in children, consisting of medulloblastomas, CNS primitive neuroectodermal tumors, and atypical teratoid/rhabdoid tumors.

One of the reasons that CNS embryonal tumors remain difficult to treat is their rarity, which makes conducting clinical trials for these tumors difficult.

Based on the genetic alterations found in humans, multiple models of human CNS embryonal tumors have been generated in genetically engineered mice.

These mouse models are valuable tools for understanding brain tumor biology and discovering novel therapeutic targets and drugs.

In this article, we review molecular and cytogenetic characteristics of human CNS embryonal tumors and corresponding mouse models that have been developed.

These findings indicate that common genetic abnormalities are seen in variants of human CNS embryonal tumors, and multiple histological variants of these tumors can be generated from a single set of genetic abnormalities in mice.

These data provide insight into the biology and classification of CNS embryonal tumors.

[MeSH-major] Central Nervous System Neoplasms / genetics. Disease Models, Animal. Neoplasms, Germ Cell and Embryonal / genetics

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(PMID = 19856214.001).

[ISSN] 1861-387X

[Journal-full-title] Brain tumor pathology

[ISO-abbreviation] Brain Tumor Pathol

[Language] eng

[Grant] United States / NCI NIH HHS / CA / U01 CA141502

[Publication-type] Journal Article; Review

[Publication-country] Japan

[Number-of-references] 109

   

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[Title] Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes.

BACKGROUND AND PURPOSE: Primary atypical teratoid/rhabdoid tumors (AT/RTs) are rare malignant intracranial neoplasms, usually occurring in young children.

The objectives of this study were to characterize the MR imaging features and locations of primary intracranial AT/RTs, to determine the frequency of disseminated disease in the central nervous system (CNS) at diagnosis and postoperatively, and to assess patient outcomes.

METHODS: The preoperative cranial MR images of 13 patients with AT/RTs were retrospectively reviewed for evaluation of lesion location, size, MR signal intensity and enhancement characteristics, and the presence of disseminated intracranial tumor.

Postoperative MR images of the head and spine for 17 patients were reviewed for the presence of locally recurrent or residual tumor and disseminated neoplasm.

A germ-line mutation of the hSNF5/INI1 tumor-suppressor gene was responsible for the simultaneous occurrence of an intracranial AT/RT and a malignant renal rhabdoid tumor in a 4-month-old patient.

Mean tumor sizes were 3.6 x 3.8 x 3.9 cm.

The fraction of tumor volume showing enhancement was greater than two thirds in 58%, between one third and two thirds in 33%, and less than one third in 9%.

Disseminated tumor in the leptomeninges was seen with MR imaging in 24% of patients at diagnosis/initial staging and occurred in another 35% from 4 months to 2.8 years (mean, 1.1 years) after surgery and earlier imaging examinations with negative findings.

Patients with MR imaging evidence of disseminated leptomeningeal tumor had a median survival rate of 16 months compared with 149 months for those without disseminated tumor (P < .004, logrank test).

Poor prognosis is associated with MR imaging evidence of disseminated leptomeningeal tumor.

[MeSH-major] Brain Neoplasms / diagnosis. Magnetic Resonance Imaging. Rhabdoid Tumor / diagnosis. Teratoma / diagnosis

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(PMID = 16687525.001).

[ISSN] 0195-6108

[Journal-full-title] AJNR. American journal of neuroradiology

[ISO-abbreviation] AJNR Am J Neuroradiol

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

   

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[Title] Atypical teratoid/rhabdoid tumors of the central nervous system: management and outcomes.

OBJECT: Atypical teratoid/rhabdoid tumors (ATRTs) represent a relatively newly categorized neoplastic entity.

Signs and symptoms began, on average, a little more than 1 month before diagnosis and included the following: headache (36%), nausea and vomiting (46%), lethargy (18%), seizures (27%), cranial nerve findings (46%), ataxia (18%), long tract findings (18%), and hydrocephalus (46%).

Tumor location was cortical in four patients, in the pineal region in four, in the posterior fossa in two, and spinal in one.

In one patient disseminated disease was revealed on the initial imaging study; seven patients had disseminated tumor subsequently.

CONCLUSIONS: Atypical teratoid/rhabdoid tumors are malignant lesions with rapid progression.

[MeSH-major] Central Nervous System Neoplasms / therapy. Rhabdoid Tumor / therapy. Teratoma / therapy

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(PMID = 16048294.001).

[ISSN] 1092-0684

[Journal-full-title] Neurosurgical focus

[ISO-abbreviation] Neurosurg Focus

[Language] eng

[Publication-type] Comparative Study; Journal Article

[Publication-country] United States

   

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[Title] Central nervous system atypical teratoid rhabdoid tumor: experience at the National Institute of Pediatrics, Mexico City.

OBJECTIVE: The purpose of this study is to present our experience with ten cases of Central nervous system atypical teratoid rhabdoid tumor (CNS/ATRT).

PATIENTS AND METHODS: A series of ten patients with CNS/ATRT, were diagnosed and treated between 1990 and 2005, at the National Institute of Pediatrics, in Mexico City.

The gender, age of presentation, clinical features, tumor localization, imaging studies, grade of tumor resection, complications, adjuvant therapy, and survival are presented.

RESULTS: The mean age at diagnosis was 37.8 months, seven cases were male, and their average clinical course was 1.3 months.

CONCLUSIONS: Preliminary results, show that in older children, we can improve their survival with the subtotal or total resection of the tumor and the addition of chemotherapy and radiotherapy.

[MeSH-major] Central Nervous System Neoplasms / pathology. Infratentorial Neoplasms / pathology. Rhabdoid Tumor / pathology. Supratentorial Neoplasms / pathology. Teratoma / pathology

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(PMID = 17876589.001).

[ISSN] 0256-7040

[Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

[ISO-abbreviation] Childs Nerv Syst

[Language] eng

[Publication-type] Journal Article

[Publication-country] Germany

   

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[Title] Novel role for insulin as an autocrine growth factor for malignant brain tumour cells.

AT/RTs (atypical teratoid/rhabdoid tumours) of the CNS (central nervous system) are childhood malignancies associated with poor survival rates due to resistance to conventional treatments such as chemotherapy.

We characterized a panel of human AT/RT and MRT (malignant rhabdoid tumour) cell lines for expression of RTKs (receptor tyrosine kinases) and their involvement in tumour growth and survival.

Taken together, our results reveal a novel role for autocrine signalling by insulin and the IR in growth and survival of malignant human CNS tumour cells via the PI3K/Akt pathway.

[MeSH-minor] Cell Line, Tumor. Cell Proliferation / drug effects. Child, Preschool. Chromosomal Proteins, Non-Histone / metabolism. Culture Media, Serum-Free. DNA-Binding Proteins / metabolism. Down-Regulation / drug effects. Down-Regulation / genetics. Enzyme Activation / drug effects. Female. Humans. Infant. Isoenzymes / metabolism. Male. Phosphatidylinositol 3-Kinases / metabolism. Proto-Oncogene Proteins c-akt / metabolism. RNA, Small Interfering / metabolism. Receptor, IGF Type 1 / metabolism. Receptor, Insulin / genetics. Receptor, Insulin / metabolism. Signal Transduction / drug effects. Transcription Factors / metabolism

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(PMID = 17506723.001).

[ISSN] 1470-8728

[Journal-full-title] The Biochemical journal

[ISO-abbreviation] Biochem. J.

[Language] eng

[Publication-type] Journal Article; Research Support, Non-U.S. Gov't

[Publication-country] England

[Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / Culture Media, Serum-Free; 0 / DNA-Binding Proteins; 0 / Growth Substances; 0 / Insulin; 0 / Isoenzymes; 0 / RNA, Small Interfering; 0 / SMARCB1 protein, human; 0 / Transcription Factors; EC 2.7.1.- / Phosphatidylinositol 3-Kinases; EC 2.7.10.1 / Receptor, IGF Type 1; EC 2.7.10.1 / Receptor, Insulin; EC 2.7.11.1 / Proto-Oncogene Proteins c-akt

[Other-IDs] NLM/ PMC1948991

   

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[Title] Primary intracranial extra-axial and supratentorial atypical rhabdoid tumor.

An atypical teratoid/rhabdoid tumor of the central nervous system is an aggressive infantile embryonal neoplasm, usually presenting as an infratentorial and intraparenchymatous lesion.

We report on magnetic resonance imaging findings of a 22-month-old boy with a biopsy-proven primary rhabdoid tumor, presenting as a single intracranial supratentorial extra-axial mass.

Based on the patient's age and imaging features (perfusion, diffusion magnetic resonance imaging, and magnetic resonance spectroscopy), a diagnosis of atypical teratoid/rhabdoid tumor was more accurate than diagnoses of meningioma and primitive neuroectodermal tumor.

Although this entity is relatively rare, it should be considered in the differential diagnosis of dural-based, space-occupying central nervous system lesions.

[MeSH-major] Brain Neoplasms / diagnosis. Brain Neoplasms / pathology. Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / pathology. Supratentorial Neoplasms / diagnosis. Supratentorial Neoplasms / pathology

[MeSH-minor] Brain / metabolism. Brain / pathology. Brain / surgery. Brain Edema / pathology. Diagnosis, Differential. Diffusion Magnetic Resonance Imaging. Humans. Infant. Magnetic Resonance Imaging. Magnetic Resonance Spectroscopy. Male. Neoplasm Recurrence, Local. Treatment Outcome

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(PMID = 19931170.001).

[ISSN] 1873-5150

[Journal-full-title] Pediatric neurology

[ISO-abbreviation] Pediatr. Neurol.

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] United States

   

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Our aim is to evaluate the clinical features and outcomes of children with primary central nervous system (CNS) tumors who develop extraneural metastasis (ENM).

We retrospectively evaluated children diagnosed with primary CNS tumors treated at our institution between 1972 and 2004.

The histopathologic diagnosis was medulloblastoma in six patients, germ cell tumors in two patients, and ependymoma and atypical teratoid rhabdoid tumor (ATRT) in one patient each.

In six patients, the primary tumor was located in the posterior fossa; it had a supratentorial location in the patient with ATRT, was located in the sellar and suprasellar region in the two patients with germ cell tumors, and was found in the distal spinal cord in the patient with an ependymoma.

In two patients ENM was detected at the time of diagnosis.

In other patients ENM developed between 9 and 25 months after diagnosis.

One patient with dysgerminoma is alive, without disease, 117.80 months after diagnosis of the ENM.

One patient with germ cell tumor is alive with disease 11.3 months after diagnosis of the ENM.

The outcome is poor in patients with CNS tumors with ENM.

[MeSH-major] Central Nervous System Neoplasms / pathology. Liver Neoplasms / secondary. Lung Neoplasms / secondary. Medulloblastoma / secondary. Neoplasms, Germ Cell and Embryonal / pathology

[MeSH-minor] Adolescent. Bone Marrow Neoplasms / mortality. Bone Marrow Neoplasms / secondary. Bone Neoplasms / mortality. Bone Neoplasms / secondary. Child. Child, Preschool. Ependymoma / mortality. Ependymoma / secondary. Female. Humans. Male. Neoplasm Metastasis. Prognosis. Retrospective Studies. Rhabdoid Tumor / mortality. Rhabdoid Tumor / secondary. Teratoma / mortality. Teratoma / secondary

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(PMID = 16645723.001).

[ISSN] 0167-594X

[Journal-full-title] Journal of neuro-oncology

[ISO-abbreviation] J. Neurooncol.

[Language] eng

[Publication-type] Journal Article

[Publication-country] United States

   

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[Title] Atypical teratoid or rhabdoid tumors: improved outcome with high-dose chemotherapy.

PURPOSE: To retrospectively review an institutional experience in managing atypical teratoid/rhabdoid tumors (AT/RT) of the Central Nervous System with high-dose chemotherapy in infants and children less than 4 years old.

Tumor location was supratentorial in 3 cases, infratentorial in 3 cases, and multifocal in 2 patients.

RESULTS: At a median follow-up of 52 months, 4 patients are alive without evidence of tumor.

[MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Brain Neoplasms / drug therapy. Rhabdoid Tumor / drug therapy. Teratoma / drug therapy

[MeSH-minor] Child, Preschool. Cisplatin / administration & dosage. Combined Modality Therapy. Cranial Irradiation. Cyclophosphamide / administration & dosage. Etoposide / administration & dosage. Female. Humans. Infant. Male. Neoplasm Metastasis. Radiotherapy Dosage. Retrospective Studies. Survival Rate. Treatment Outcome. Vincristine / administration & dosage

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[ErratumIn] J Pediatr Hematol Oncol. 2011 Jul;33(5):400. Laura, Janzen [corrected to Janzen, Laura]

(PMID = 20495479.001).

[ISSN] 1536-3678

[Journal-full-title] Journal of pediatric hematology/oncology

[ISO-abbreviation] J. Pediatr. Hematol. Oncol.

[Language] eng

[Publication-type] Journal Article; Research Support, Non-U.S. Gov't

[Publication-country] United States

[Chemical-registry-number] 5J49Q6B70F / Vincristine; 6PLQ3CP4P3 / Etoposide; 8N3DW7272P / Cyclophosphamide; Q20Q21Q62J / Cisplatin

   

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[Title] Successful multimodal therapies for a primary atypical teratoid/rhabdoid tumor in the cervical spine.

Atypical teratoid/rhabdoid tumor (AT/RT) occurring in the central nervous system is a high-grade malignant tumor, and its prognosis is poor for patients younger than 3 years of age.

At the age of nearly 3 years, she received radiation therapy to the local tumor bed and craniospinal axis.

The success of this treatment for the patient was that we could prevent tumor recurrence until she was able to receive radiotherapy.

[MeSH-major] Cervical Vertebrae / pathology. Rhabdoid Tumor / drug therapy. Spinal Neoplasms / drug therapy. Teratoma / drug therapy

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[Copyright] (c) 2008 S. Karger AG, Basel.

(PMID = 18703889.001).

[ISSN] 1423-0305

[Journal-full-title] Pediatric neurosurgery

[ISO-abbreviation] Pediatr Neurosurg

[Language] eng

[Publication-type] Case Reports; Journal Article; Review

[Publication-country] Switzerland

[Chemical-registry-number] 0 / Antineoplastic Agents

[Number-of-references] 22

   

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[Title] Atypical teratoid/rhabdoid tumors (ATRT): improved survival in children 3 years of age and older with radiation therapy and high-dose alkylator-based chemotherapy.

PURPOSE: To describe clinical features, therapeutic approaches, and prognostic factors in pediatric patients with atypical teratoid/rhabdoid tumors (ATRT) treated at St Jude Children's Research Hospital (SJCRH).

PATIENTS AND METHODS: Primary tumor samples from patients diagnosed with ATRT at SJCRH between July 1984 and June 2003 were identified.

Posterior fossa primary lesions and metastatic disease at diagnosis were more common in younger patients with ATRT.

[MeSH-major] Central Nervous System Neoplasms / therapy. Neoplasms, Germ Cell and Embryonal / therapy. Rhabdoid Tumor / therapy. Teratoma / therapy

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(PMID = 15735125.001).

[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

[Grant] United States / NCI NIH HHS / CA / CA 21765

[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 / SMARCC1 protein, human; 0 / Transcription Factors

   

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[Title] Atypical teratoid/rhabdoid tumor mimicking tuberculous meningitis.

Atypical teratoid/rhabdoid tumor of the central nervous system is a highly malignant neoplasm in infants and young children.

We report a 6 year-old girl with atypical teratoid/rhabdoid tumor.

Pathologic result revealed high grade atypical teratoid/rhabdoid tumor.

[MeSH-major] Rhabdoid Tumor / diagnosis. Teratoma / diagnosis. Tuberculosis, Meningeal / diagnosis

[MeSH-minor] Cerebrospinal Fluid. Child. Diagnosis, Differential. Female. Humans. Magnetic Resonance Imaging

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(PMID = 18451456.001).

[ISSN] 0019-6061

[Journal-full-title] Indian pediatrics

[ISO-abbreviation] Indian Pediatr

[Language] eng

[Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't

[Publication-country] India

   

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[Title] Neuroradiological findings in atypical teratoid/rhabdoid tumor of the central nervous system.

PURPOSE: To evaluate the computed tomography (CT) and magnetic resonance imaging (MRI) findings of atypical teratoid tumor/rhabdoid tumor (AT/RT) of the central nervous system (CNS).

MATERIAL AND METHODS: Twenty cases of CNS AT/RT have been found over the past 23 years in our hospital; these involving 11 boys and 9 girls whose mean age at diagnosis was 5.5 years.

The diagnosis mainly depends on the pathologic findings.

However, AT/RT should still remain in the differential diagnosis of brain tumors in young children, especially those located in the cerebellar hemisphere and with eccentric cysts.

[MeSH-major] Central Nervous System Neoplasms / pathology. Central Nervous System Neoplasms / radiography. Rhabdoid Tumor / pathology. Rhabdoid Tumor / radiography. Teratoma / pathology. Teratoma / radiography

[MeSH-minor] Adolescent. Adult. Child. Child, Preschool. Diagnosis, Differential. Female. Humans. Infant. Magnetic Resonance Imaging. Male. Prognosis. Retrospective Studies. Survival Rate. Tomography, X-Ray Computed

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(PMID = 15841745.001).

[ISSN] 0284-1851

[Journal-full-title] Acta radiologica (Stockholm, Sweden : 1987)

[ISO-abbreviation] Acta Radiol

[Language] eng

[Publication-type] Journal Article

[Publication-country] Sweden

   

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[Title] Embryonal tumor with abundant neuropil and true rosettes (ETANTR): a new distinctive variety of pediatric PNET: a case-based update.

BACKGROUND: Embryonal central nervous system (CNS) tumors are currently classified into three types: medulloblastoma, atypical rhabdoid/teratoid tumors, and primitive neuroectodermal tumor (PNET).

A distinctive subtype of PNET called "embryonal tumor with abundant neuropil and true rosettes" (ETANTR) was reported in 2000.

It has been suggested that this neoplasm should be considered as a separate entity.

ETANTR is an eminently pediatric tumor that has been reported exclusively in children younger than 4 years.

ILLUSTRATIVE CASES: A 9-month-old girl underwent subtotal resection of a brainstem neoplasm.

A 23-month-old girl was submitted to surgery for a frontoparietal tumor.

In both instances, the histopathological diagnosis confirmed ETANTR.

CONCLUSIONS: By reporting these two new instances of ETANTR, we want to contribute to the knowledge of this highly malignant CNS embryonal neoplasm that occurs only in young children, given its present lethal prognosis, the scarcity of reported cases, and the lack of treatment guidelines.

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[Cites] Am J Surg Pathol. 2009 Feb;33(2):211-7 [18987548.001]

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(PMID = 20499240.001).

[ISSN] 1433-0350

[Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

[ISO-abbreviation] Childs Nerv Syst

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Germany

[Chemical-registry-number] 0 / Antineoplastic Agents

   

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[Title] Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology.

Loss of expression of INI1 as detected by immunohistochemical staining correlates with deletion and mutations of the INI1 gene in patients with malignant rhabdoid tumors and central nervous system atypical teratoid/rhabdoid tumors and as such is a sensitive and specific marker for these tumors.

Loss of INI1 expression may rarely be encountered in other tumor types.

[MeSH-major] Biomarkers, Tumor / metabolism. Central Nervous System Neoplasms / diagnosis. Chromosomal Proteins, Non-Histone / metabolism. DNA-Binding Proteins / metabolism. Immunohistochemistry / methods. Soft Tissue Neoplasms / diagnosis. Transcription Factors / metabolism

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(PMID = 17717433.001).

[ISSN] 1072-4109

[Journal-full-title] Advances in anatomic pathology

[ISO-abbreviation] Adv Anat Pathol

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] United States

[Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors

[Number-of-references] 20

   

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[Title] Establishment of atypical-teratoid/rhabdoid tumor (AT/RT) cell cultures from disseminated CSF cells: a model to elucidate biology and potential targeted therapeutics.

Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant central nervous system neoplasm that usually affects infants and young children.

In this report, we describe culture conditions that enabled the sustained growth of tumor cells obtained from the cerebrospinal fluid (CSF) of an infant with AT/RT.

These cells retained the morphological and biomarker characteristics of the original tumor.

In addition to previously described cell lines and xenograft models, continuous culture of CSF derived cells may also provide an effective way to study the biology of AT/RT and to identify potential targets for future therapeutics for this tumor.

[MeSH-major] Platelet Aggregation Inhibitors / therapeutic use. Rhabdoid Tumor / cerebrospinal fluid. Rhabdoid Tumor / drug therapy

[MeSH-minor] Actins / metabolism. Cell Proliferation. Chromosomal Proteins, Non-Histone / metabolism. DNA-Binding Proteins / metabolism. Dose-Response Relationship, Drug. Glial Fibrillary Acidic Protein / metabolism. Humans. Infant. Inhibitory Concentration 50. Male. Models, Biological. Nuclear Proteins / metabolism. Receptor Protein-Tyrosine Kinases / metabolism. SMARCB1 Protein. Transcription Factors / metabolism. Tumor Cells, Cultured / pathology. Vimentin / metabolism

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(PMID = 18651103.001).

[ISSN] 0167-594X

[Journal-full-title] Journal of neuro-oncology

[ISO-abbreviation] J. Neurooncol.

[Language] eng

[Publication-type] Journal Article; Research Support, Non-U.S. Gov't

[Publication-country] United States

[Chemical-registry-number] 0 / Actins; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / Glial Fibrillary Acidic Protein; 0 / Nuclear Proteins; 0 / Platelet Aggregation Inhibitors; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Transcription Factors; 0 / Vimentin; EC 2.7.10.1 / Receptor Protein-Tyrosine Kinases

   

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[Title] Elevation of plasma and cerebrospinal fluid osteopontin levels in patients with atypical teratoid/rhabdoid tumor.

Osteopontin, a cancer metastasis-associated gene, is specifically up-regulated in central nervous system (CNS) atypical teratoid/rhabdoid tumor (AT/RT), but its biological behavior in the progression of CNS AT/RT has never been studied.

The differences in osteopontin expression in plasma, CSF, and tumor samples in AT/RT and medulloblastoma correlated with survival differences.

[MeSH-major] Brain Neoplasms / metabolism. Rhabdoid Tumor / metabolism. Sialoglycoproteins. Teratoma / metabolism

[MeSH-minor] Adolescent. Adult. Child. Child, Preschool. Enzyme-Linked Immunosorbent Assay. Humans. Infant. Infant, Newborn. Medulloblastoma / metabolism. Medulloblastoma / mortality. Medulloblastoma / pathology. Neoplasm Recurrence, Local. Osteopontin. Survival Rate

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(PMID = 15842057.001).

[ISSN] 0002-9173

[Journal-full-title] American journal of clinical pathology

[ISO-abbreviation] Am. J. Clin. Pathol.

[Language] eng

[Publication-type] Journal Article; Research Support, Non-U.S. Gov't

[Publication-country] United States

[Chemical-registry-number] 0 / SPP1 protein, human; 0 / Sialoglycoproteins; 106441-73-0 / Osteopontin

   

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[Title] Carboplatin-based primary chemotherapy for infants and young children with CNS tumors.

BACKGROUND: A carboplatin-based chemotherapy regimen was used as primary postoperative therapy in infants with central nervous system (CNS) tumors to limit renal and ototoxicity and to target systemic exposure.

METHODS: Fifty-three patients aged <age 3 years with embryonal CNS tumor medulloblastoma (n = 20), ependymoma (EP, n = 21), choroid plexus carcinoma (CPCA, n = 5), and primitive embryonal neoplasms including atypical teratoid rhabdoid tumors (n = 7) were treated with cyclophosphamide, etoposide, and carboplatin.

For medulloblastoma, the 5-year PFS was 26% +/- 9%; for EP it was 33% +/- 10%; for CPCA it was 80% +/- 18%; and for primitive neuroectodermal and atypical teratoid rhabdoid tumors it was 0%.

[MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Carboplatin / administration & dosage. Central Nervous System Neoplasms / drug therapy

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(PMID = 19484793.001).

[ISSN] 0008-543X

[Journal-full-title] Cancer

[ISO-abbreviation] Cancer

[Language] eng

[Grant] United States / NCI NIH HHS / CA / P30 CA021765; United States / NCI NIH HHS / CA / P30 CA021765-30; United States / NCI NIH HHS / CA / R25 CA023944; United States / NCI NIH HHS / CA / CA21765

[Publication-type] Clinical Trial, Phase II; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

[Publication-country] United States

[Chemical-registry-number] 6PLQ3CP4P3 / Etoposide; 8N3DW7272P / Cyclophosphamide; BG3F62OND5 / Carboplatin

[Other-IDs] NLM/ NIHMS124374; NLM/ PMC4307774

   

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[Title] Current treatment approaches for infants with malignant central nervous system tumors.

Nearly three decades of infant brain tumor clinical trials have led to significant progress in the delineation of prognostic factors and improvements in outcome.

This review covers the most recent therapeutic advances for the most common histological subtypes of malignant infant brain tumors: medulloblastoma, supratentorial primitive neuroectodermal tumor, ependymoma, atypical teratoid rhabdoid tumor, choroid plexus carcinoma, and high-grade glioma.

[MeSH-minor] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Carcinoma / therapy. Cerebellar Neoplasms / therapy. Chemotherapy, Adjuvant. Choroid Plexus Neoplasms / therapy. Clinical Trials as Topic. Clinical Trials, Phase III as Topic. Ependymoma / therapy. Evidence-Based Medicine. Glioma / therapy. Humans. Infant. Medulloblastoma / therapy. Meta-Analysis as Topic. Neuroectodermal Tumors, Primitive / therapy. Prognosis. Radiotherapy Dosage. Radiotherapy, Adjuvant. Rhabdoid Tumor / therapy. Stem Cell Transplantation. Supratentorial Neoplasms / therapy

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(PMID = 19342475.001).

[ISSN] 1549-490X

[Journal-full-title] The oncologist

[ISO-abbreviation] Oncologist

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] United States

[Number-of-references] 116

   

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[Title] Atypical teratoid rhabdoid tumor (AT/RT) in adults: review of four cases.

Atypical teratoid/rhabdoid (AT/RT) tumor is a rare, highly malignant tumor of the central nervous system (CNS) most commonly found in children less than 5 years of age.

In many instances, a reliable diagnosis is not possible without demonstrating the lack of nuclear INI1 protein expression by immunohistochemical methods.

In all cases, diagnosis during intraoperative consultation and preliminary diagnosis was different from the final diagnosis after immunohistochemical analysis.

Immunohistochemical staining showed that the tumor cells were positive for vimentin and reacted variably for keratin, epithelial membrane antigen (EMA), synaptophysin, neurofilament protein, CD34, and smooth muscle actin (SMA).

One patient is alive with no evidence of disease 17 years after the diagnosis.

In adult examples of AT/RT, the diagnosis requires a high index of suspicion, with early tissue diagnosis and a low threshold for investigation with INI1 immunohistochemistry to differentiate this entity from other morphologically similar tumors.

[MeSH-major] Brain Neoplasms / metabolism. Brain Neoplasms / pathology. Rhabdoid Tumor / metabolism. Rhabdoid Tumor / pathology

[MeSH-minor] Adult. Chromosomal Proteins, Non-Histone / metabolism. DNA-Binding Proteins / metabolism. Diagnosis, Differential. Female. Humans. Immunohistochemistry. Male. SMARCB1 Protein. Transcription Factors / metabolism

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(PMID = 18369529.001).

[ISSN] 0167-594X

[Journal-full-title] Journal of neuro-oncology

[ISO-abbreviation] J. Neurooncol.

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] United States

[Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Transcription Factors

   

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[Title] [The role of diagnostic neuropathology in familial tumour syndromes].

Inherited cancer syndromes often involve the central and peripheral nervous system.

For the surgical neuropathologist the possibility in individual patients of a familial tumour syndrome needs to be considered in the case of special tumours such as malignant peripheral nerve sheath tumour (MPNST), medulloblastoma with extensive nodularity (MBEN) or even atypical teratoid/rhabdoid tumour (AT/RT) of the brain.

Furthermore, tumour location and patient age may point to a familial tumour syndrome as in the case of neurofibromatosis type 2 (NF2) with typical bilateral vestibular schwannoma in young age.

[MeSH-minor] Central Nervous System Neoplasms / genetics. Central Nervous System Neoplasms / pathology. Chromosome Mapping. Chromosomes, Human, Pair 16. Chromosomes, Human, Pair 17. Chromosomes, Human, Pair 22. Chromosomes, Human, Pair 9. Genes, Neurofibromatosis 1. Genes, Neurofibromatosis 2. Humans. Li-Fraumeni Syndrome / genetics. Li-Fraumeni Syndrome / pathology. Neurofibromatosis 1 / genetics. Neurofibromatosis 1 / pathology. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / pathology. Neuroma, Acoustic / genetics. Neuroma, Acoustic / pathology. Peripheral Nervous System Neoplasms / genetics. Peripheral Nervous System Neoplasms / pathology. Rhabdoid Tumor / genetics. Rhabdoid Tumor / pathology. Teratoma / genetics. Teratoma / pathology. Tuberous Sclerosis / genetics. Tuberous Sclerosis / pathology

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[Cites] Genet Med. 2010 Jan;12(1):1-11 [20027112.001]

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(PMID = 20848106.001).

[ISSN] 1432-1963

[Journal-full-title] Der Pathologe

[ISO-abbreviation] Pathologe

[Language] ger

[Publication-type] English Abstract; Journal Article; Review

[Publication-country] Germany

   

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[Title] Atypical teratoid/rhabdoid tumor of the central nervous system: clinicopathologic and immunohistochemical features of four cases.

BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare aggressive infantile neoplasm of uncertain origin.

Histopathologically, the tumors were composed of rhabdoid cells and undifferentiated small cells mixed with epithelial or mesenchymal components.

All of the patients died within a mean of 14 months due to tumor progression despite the chemotherapy.

Only one of our patients lived for 40 months after the diagnosis.

Morphologically, a large spectrum can be seen, like predominantly sarcoma in appearance, but immunohistochemistry is helpful in the correct diagnosis.

[MeSH-major] Brain Neoplasms / pathology. Rhabdoid Tumor / pathology. Teratoma / pathology

[MeSH-minor] Actins / analysis. Brain / pathology. Brain Chemistry. Child. Child, Preschool. Chromosomal Proteins, Non-Histone / analysis. DNA-Binding Proteins / analysis. Desmin / analysis. Diagnosis, Differential. Female. Glial Fibrillary Acidic Protein / analysis. Humans. Immunohistochemistry. Infant. Keratins / analysis. Male. Mucin-1 / analysis. S100 Proteins / analysis. SMARCB1 Protein. Synaptophysin / analysis. Transcription Factors / analysis. Vimentin / analysis

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[CommentIn] Childs Nerv Syst. 2009 Nov;25(11):1387; author reply 1389 [19636570.001]

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(PMID = 19212771.001).

[ISSN] 1433-0350

[Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

[ISO-abbreviation] Childs Nerv Syst

[Language] eng

[Publication-type] Case Reports; Journal Article

[Publication-country] Germany

[Chemical-registry-number] 0 / Actins; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / Desmin; 0 / Glial Fibrillary Acidic Protein; 0 / Mucin-1; 0 / S100 Proteins; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Synaptophysin; 0 / Transcription Factors; 0 / Vimentin; 68238-35-7 / Keratins

   

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[Title] Recent advances in embryonal tumours of the central nervous system.

INTRODUCTION: Embryonal tumours of the central nervous system (CNS) are the commonest malignant paediatric brain tumours.

This group includes medulloblastomas, supratentorial primitive neuroectodermal tumours, atypical teratoid/rhabdoid tumours, ependymoblastomas, and medulloepitheliomas.

[MeSH-major] Central Nervous System Neoplasms / embryology. Neoplasms, Germ Cell and Embryonal / genetics. Neoplasms, Germ Cell and Embryonal / pathology

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(PMID = 15682321.001).

[ISSN] 0256-7040

[Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

[ISO-abbreviation] Childs Nerv Syst

[Language] eng

[Publication-type] Journal Article; Review

[Publication-country] Germany

[Chemical-registry-number] 0 / Transcription Factors

[Number-of-references] 236

   

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[Title] Congenital tumors of the central nervous system.

Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into "definitely congenital" (present or producing symptoms at birth), "probably congenital" (present or producing symptoms within the first week of life), and "possibly congenital" (present or producing symptoms within the first 6 months of life).

The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies.

Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor.

They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors.

Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas.

The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor.

[MeSH-major] Central Nervous System Neoplasms / congenital. Central Nervous System Neoplasms / diagnosis. Magnetic Resonance Imaging / methods. Tomography, X-Ray Computed / methods

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(PMID = 20428859.001).

[ISSN] 1432-1920

[Journal-full-title] Neuroradiology

[ISO-abbreviation] Neuroradiology

[Language] eng

[Publication-type] Journal Article

[Publication-country] Germany