Disseminated medulloblastoma in a child with germline BRCA2 6174delT mutation and without Fanconi anemia

ABSTRACT: We describe an 8 year old child who had disseminated anaplastic medulloblastoma and a deleterious heterozygous BRCA2 6174delT germline mutation. Molecular profiling was consistent with Group 4 medulloblastoma. The posterior fossa mass was resected and the patient received intensive chemotherapy and craniospinal irradiation. Despite this, the patient succumbed to a second recurrence of his medulloblastoma, which presented eight months after diagnosis as malignant pleural and peritoneal effusions. Continuous medulloblastoma cell lines were isolated from the original tumor (CHLA-01-MED) and the malignant pleural effusion (CHLA-01R-MED). Here we provide their analyses, including in vitro and in vivo growth, drug sensitivity, comparative genomic hybridization and next generation sequencing anal

ORGANISM(S): Homo sapiens

SUBMITTER: Michael Barrett 

PROVIDER: E-GEOD-70003 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress