| Familial medulloblastoma: case report of one family and review of the literature. | |
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MedLine Citation:
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PMID: 12182422 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE AND IMPORTANCE: Medulloblastoma is the most common malignant brain tumor and the most common malignant solid tumor in children. Most medulloblastomas are sporadic, but rare familial forms have been described. To the best of our knowledge, only 10 case reports of familial medulloblastoma have been published. A variety of candidate genes have been suggested to be involved in familial medulloblastomas. However, the exact pathogenesis and genetics involved in familial medulloblastoma remain unknown. CLINICAL PRESENTATION: We describe the presentation of medulloblastoma in two siblings (one of each sex) and their great-uncle. The three cases differ with regard to age at onset and pathological subtype of medulloblastoma. INTERVENTION OR TECHNIQUE: Immunostaining of tissue blocks for gene products involved in medulloblastoma differed in the two siblings for beta-catenin and was similar with staining for gli. CONCLUSION: This article is only the second report in the literature to address the genetics of familial medulloblastoma in the absence of characterized conditions such as Li-Fraumeni's cancer syndrome and basal cell nevus, Rubinstein-Taybi's, and Turcot's syndromes. The discrepancy in beta-catenin staining in the two siblings suggests that the two tumors differentiated through divergent pathways. We briefly summarize all published cases of familial medulloblastoma and review the literature on the genes involved in medulloblastoma formation. |
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Authors:
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Cornelia S von Koch; Mittul Gulati; Kenneth Aldape; Mitchel S Berger |
Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Neurosurgery Volume: 51 ISSN: 0148-396X ISO Abbreviation: Neurosurgery Publication Date: 2002 Jul |
Date Detail:
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Created Date: 2002-08-16 Completed Date: 2003-01-30 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7802914 Medline TA: Neurosurgery Country: United States |
Other Details:
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Languages: eng Pagination: 227-33; discussion 233 Citation Subset: IM |
Affiliation:
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Department of Neurological Surgery, University of California at San Francisco, 94143-0112, USA. cvonkoch@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Cerebellar Neoplasms / genetics*, pathology, surgery Cerebellum / pathology, surgery Child Cytoskeletal Proteins / genetics Fatal Outcome Female Gene Expression Regulation, Neoplastic / physiology Humans Ki-67 Antigen / genetics Male Medulloblastoma / genetics*, pathology, surgery Neurologic Examination Oncogene Proteins / genetics Pedigree Trans-Activators / genetics Transcription Factors / genetics Tumor Markers, Biological / genetics beta Catenin |
| Chemical | |
Reg. No./Substance:
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0/CTNNB1 protein, human; 0/Cytoskeletal Proteins; 0/Gli protein; 0/Ki-67 Antigen; 0/Oncogene Proteins; 0/Trans-Activators; 0/Transcription Factors; 0/Tumor Markers, Biological; 0/beta Catenin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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