[Hereditary p53 mutation in a patient with multiple tumors: significance for genetic counseling].

摘要: We describe molecular genetic findings in a patient who initially presented with an intermediate teratoma of the testis and many years later oligodendro-astrocytoma. In addition he developed malignant histiocytoma over scapula, adenocarcinoma stomach late stage adenoma sigmoid colon. Due to development several neoplasms possibility either ataxia telangiectasia or Li-Fraumeni syndrome was considered differential diagnosis. A investigation revealed that both his brother carried germline p53 tumor suppressor gene mutation at codon 248. From this result we conclude family belongs syndrome. Once characterized as belonging syndrome, remaining members were typed determine if they too same mutation. The two children index shown not carry are therefore no increased risk developing any spectrum malignancies. into similar families could help prevent additional malignancies seen patient, radiotherapy may interfere normal function protein turn orchestrate DNA repair after radiation.