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

SUMMARY We describe the unusual case o f early-onset adenocarcinoma o f the cardia in a 22year-old male. The patient died within less than one year after diagnosis was established. By immunohistochemistry, pS3 expression was observed in the tumor cells. Automated direct sequencing o f polymerase chain reaction (PCR) amplified DIVA revealed a homozygous transition in pS3 codon 280 (AGA to G GA) as the molecular basis o f pS3 accumulation. Previous studies suggest that gastric carcinomas with mutations in the pS3 tumor-suppressor gene are associated with particularly poor prognosis when compared with tumors without pS3 mutations. Since carriers o f pS3 mutations in the germline have a SO percent likelihood o f developing cancer before the age o f 30, we examined tumor-free tissue for the presence o f a germline mutation in codon 280, but none was found.