Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without Fanconi Anemia.

摘要: Medulloblastoma, the most common malignant brain tumor in children, occurs with increased frequency individuals Fanconi anemia who have biallelic germline mutations BRCA2. We describe an 8 year old child had disseminated anaplastic medulloblastoma and a deleterious heterozygous BRCA2 6174delT mutation. Molecular profiling was consistent Group 4 medulloblastoma. The posterior fossa mass resected patient received intensive chemotherapy craniospinal irradiation. Despite this, succumbed to second recurrence of his medulloblastoma, which presented eight months after diagnosis as pleural peritoneal effusions. Continuous cell lines were isolated from original (CHLA-01-MED) effusion (CHLA-01R-MED). Here we provide their analyses, including vitro vivo growth, drug sensitivity, comparative genomic hybridization next generation sequencing analysis. In addition 6174delT, cells amplification MYC, deletion at Xp11.2 isochromosome 17, but no structural variations or overexpression GFI1 GFI1B. To our knowledge, this is first pair diagnosis/recurrence lines, only described date, reported case associated did not also anemia.