[Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation]. / Le syndrome de Li Fraumeni: à propos d'un cas familial avec cancers multiples et présentant une mutation germinale du gène p53.

ABSTRACT

Li Fraumeni Syndrome (LFS) is a rare autosomal disorder characterized by a familial clustering of tumors. Analysis of several series of LFS families have shown that 70% of such families are attributable to germ-line mutations in TP53. We report the case of a patient who had a first degree family antecedent of cancer in young ages. At the age of 31 years, the patient was operated of bladder papillary superficial carcinoma; five years later, he was treated for a high grade pleomorphe sarcoma of the left thigh and treated by surgery, adjuvant chemotherapy and radiotherapy. At the age of 38 years, after abdominal pain, radiologic examination reveled pancreatic tumor with bone and lymphatic metastases. The patient died one month later from pulmonary embolism. Sequencing revealed a germiline mutation of this patient that was confirmed in a member of his family in codon 1009C>T, protein Arg337Cys, exon 10 of TP53 gene this mutation was revealed in his nephew (died at the age of 20 from bone sarcoma).