title: Adenocarcinoma of the cardia in a young man: detection of somatic p53 mutation by immunohistochemistry and automated direct sequencing.
abstract: We describe the unusual case of early-onset adenocarcinoma of the cardia in a 22-year-old male. The patient died within less than one year after diagnosis was established. By immunohistochemistry, p53 expression was observed in the tumor cells. Automated direct sequencing of polymerase chain reaction (PCR) amplified DNA revealed a homozygous transition in p53 codon 280 (AGA to GGA) as the molecular basis of p53 accumulation. Previous studies suggest that gastric carcinomas with mutations in the p53 tumor-suppressor gene are associated with particularly poor prognosis when compared with tumors without p53 mutations. Since carriers of p53 mutations in the germline have a 50 percent likelihood of developing cancer before the age of 30, we examined tumor-free tissue for the presence of a germline mutation in codon 280, but none was found.
authors.affiliation: Gerhard-Domagk-Institute of Pathology, University of Münster, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Poremba
authors.forename: D W
authors.initials: DW
authors.lastname: Yandell
authors.forename: W
authors.initials: W
authors.lastname: Mellin
authors.forename: K W
authors.initials: KW
authors.lastname: Schmid
authors.forename: B
authors.initials: B
authors.lastname: Reers
authors.forename: W
authors.initials: W
authors.lastname: Böcker
authors.forename: B
authors.initials: B
authors.lastname: Dockhorn-Dworniczak
mesh_terms: D000230:Adenocarcinoma / Q000737:chemistry / Q000235:genetics / Q000473:pathology*; D000328:Adult; D004273:DNA, Neoplasm / Q000032:analysis; D016147:Genes, Tumor Suppressor / Q000235:genetics; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011379:Prognosis; D017422:Sequence Analysis, DNA; D013274:Stomach Neoplasms / Q000737:chemistry / Q000235:genetics / Q000473:pathology*; D016159:Tumor Suppressor Protein p53 / Q000096:biosynthesis
chemical_list: D004273:DNA, Neoplasm; D016159:Tumor Suppressor Protein p53