Document Detail


Familial medulloblastoma: case report of one family and review of the literature.
MedLine Citation:
PMID:  12182422     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Cornelia S von Koch; Mittul Gulati; Kenneth Aldape; Mitchel S Berger
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Neurosurgery     Volume:  51     ISSN:  0148-396X     ISO Abbreviation:  Neurosurgery     Publication Date:  2002 Jul 
Date Detail:
Created Date:  2002-08-16     Completed Date:  2003-01-30     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  7802914     Medline TA:  Neurosurgery     Country:  United States    
Other Details:
Languages:  eng     Pagination:  227-33; discussion 233     Citation Subset:  IM    
Affiliation:
Department of Neurological Surgery, University of California at San Francisco, 94143-0112, USA. cvonkoch@yahoo.com
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MeSH Terms
Descriptor/Qualifier:
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:
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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