FAMILIAL BRAIN-TUMOR-SYNDROME ASSOCIATED WITH A P53 GERMLINE DELETIONOF CODON-236

This report describes clinical, neuropathological and molecular geneti c findings in a Swiss family with four brain tumours in only two gener ations. The neoplasms observed covered a wide range of biologic behavi our, from a slowly growing lesion already apparent at birth, to anapla stic astrocytoma in a young adult and glioblastomas at the age of less then 10 years. The only non-neural neoplasms in this family were a ca se of leukemia and an adrenocortical carcinoma. A germline deletion of codon 236 of the p53 tumour suppressor gene was identified as an unde rlying cause and detected in all affected family members. This mutatio n has not previously been reported as germline transmission or in spor adic tumours. The unusual accumulation of CNS tumours may be due to a certain organ-specific effect of this particular p53 mutation or it ma y reflect the specific genetic back-ground of this family.