Familial medulloblastoma: case report of one family and review of the literature.
OBJECTIVE
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.


METHODS
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.


CONCLUSIONS
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.
Department of Neurological Surgery, University of California at San Francisco, 94143-0112, USA. cvonkoch@yahoo.com
Cornelia S
CS
von Koch
Mittul
M
Gulati
Kenneth
K
Aldape
Mitchel S
MS
Berger
D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics; D002528:Cerebellar Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002531:Cerebellum / Q000473:pathology / Q000601:surgery; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D015972:Gene Expression Regulation, Neoplastic / Q000502:physiology; D006801:Humans; D019394:Ki-67 Antigen / Q000235:genetics; D008297:Male; D008527:Medulloblastoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D009460:Neurologic Examination; D015513:Oncogene Proteins / Q000235:genetics; D010375:Pedigree; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D000071676:Zinc Finger Protein GLI1; D051176:beta Catenin
D014408:Biomarkers, Tumor; C495270:CTNNB1 protein, human; D003598:Cytoskeletal Proteins; D019394:Ki-67 Antigen; D015513:Oncogene Proteins; D015534:Trans-Activators; D014157:Transcription Factors; D000071676:Zinc Finger Protein GLI1; D051176:beta Catenin