Characterization of adenocarcinoma of the lung in a familial adenomatous polyposis patient.

摘要: The incidence of several extracolonic tumors, such as duodenal carcinoma, is higher in familial adenomatous polyposis (FAP) patients than the general population, but there little information about lung carcinoma FAP. A 43-year-old woman presented with a tumor 17 years after total colectomy for Pathohistological analysis demonstrated mixed adenocarcinoma consisting papillary component and bronchioloalveolar component. Sequencing indicated germline APC mutation from TCA to TGA (stop) at codon 1110, no pathogenic MYH mutations. other allele was not inactivated by somatic mutations, promoter methylation, or chromosomal deletion. No mutations any coding regions p53 gene hot spot K-ras EGFR genes were detected carcinoma. Amplification, however, three chromosome regions, 5p, 8q, 12q14-12q21, identified on genome-wide high-resolution single-nucleotide polymorphism (SNP) microarray. present results suggest that copy number alterations SNP microarray involved carcinogenesis FAP patient.