Oncogene amplification in medulloblastoma: analysis of a case by comparative genomic hybridization and fluorescence in situ hybridization.

摘要: We describe amplification of the MYCC oncogene in a medulloblastoma with aggressive clinical behavior. The patient was six year old boy who underwent gross total surgical excision cerebellar tumor. Despite chemotherapy and neuraxis radiation, course one relentless progression, extensive subarachnoid spread death within eight months presentation. pathological features were consistent recently described, "large cell variant" medulloblastoma. Tumor cells exhibited large vesicular nuclei, prominent nucleoli strong immunoreactivity for synaptophysin. Polymerase chain reaction (PCR) fluorescence situ hybridization (FISH) assay revealed no evidence MYCN or 1p deletion FISH analysis 20- to 30-fold range. Comparative genomic (CGH) regions gains three locations, chromosome 7, 8q24 (corresponding locus) long arm 17 (suggestive isochromosome 17q). While conventional karyotypic not successful present case, CGH provided invaluable information about gene losses/gains chromosomes chromosomal regions. Thus, is powerful technique applicable frozen paraffin-embedded material which helps ascertain presence even without prior knowledge be tested.