ADENOCARCINOMA OF THE CARDIA IN A YOUNG MAN - DETECTION OF SOMATIC P53 MUTATION BY IMMUNOHISTOCHEMISTRY AND AUTOMATED DIRECT SEQUENCING

we describe the unusual case of early-onset adenocarcinoma of the card ia in a 22-year-old male. The patient died within less than one year a fter diagnosis was established. By immunohistochemistry, p53 expressio n was observed in the tumor cells. Automated direct sequencing of poly merase chain reaction (PCR) amplified DNA revealed a homozygous transi tion in p53 codon 280 (AGA to GGA) as the molecular basis of p53 accum ulation. Previous studies suggest that gastric carcinomas with mutatio ns in the p53 tumor-suppressor gene are associated with particularly p oor prognosis when compared with tumors without p53 mutations. Since c arriers of p53 mutations in the germline have a 50 percent likelihood of developing cancer before the age of 30, we examined tumor-free tiss ue for the presence of a germline mutation in codon 280, but none was found.