Astrocytomas and Choroid Plexus Tumors in Two Families with Identical p53 Germline Mutations

摘要: Germline p53 mutations carry an increased risk of development breast cancer, soft tissue and osteosarcomas, brain tumors, leukemia adrenocortical carcinomas. Cerebral neoplasms are usually astrocytic lineage occur in 40% affected families. This report presents clinical, neuropathological molecular genetic data from 2 families France with identical germline mutation codon 248 (CGG->TGG; Arg->Trp) a clustering CNS tumors. The youngest patient each family developed malignant choroid plexus tumor while several young adults both kindred succumbed to low-grade astrocytoma, anaplastic astrocytoma or glioblastoma. only non-neural neoplasm was carcinoma boy aged 4 years who papilloma later. Of previously reported inherited 1 occurred which also carried 248. It remains be shown whether this unusual pattern tumors is due organ-specific effect particular it reflects the background