Characterization of adenocarcinoma of the lung in a familial adenomatous polyposis patient.
The incidence of several extracolonic tumors, such as duodenal carcinoma, is higher in familial adenomatous polyposis (FAP) patients than in the general population, but there is little information about lung carcinoma in FAP. A 43-year-old woman presented with a lung tumor 17 years after total colectomy for FAP. Pathohistological analysis of the lung tumor demonstrated mixed adenocarcinoma consisting of a papillary adenocarcinoma component and a bronchioloalveolar carcinoma component. Sequencing analysis indicated a germline APC mutation from TCA to TGA (stop) at codon 1110, but no pathogenic germline MYH mutations. The other APC allele in the lung carcinoma was not inactivated by somatic mutations, promoter methylation, or chromosomal deletion. No somatic mutations in any of the coding regions of the p53 gene or in the mutation hot spot regions of the K-ras or EGFR genes were detected in the carcinoma. Amplification, however, of three chromosome regions, 5p, 8q, and 12q14-12q21, was identified in the carcinoma on genome-wide high-resolution single-nucleotide polymorphism (SNP) microarray. The present results suggest that the chromosomal copy number alterations detected on SNP microarray were involved in the carcinogenesis of the adenocarcinoma of the lung in the present FAP patient.
Shinmura
Kazuya
K
First Department of Pathology, Hamamastsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
Suzuki
Masaya
M
Yamada
Hidetaka
H
Tao
Hong
H
Goto
Masanori
M
Kamo
Takaharu
T
Nagura
Kiyoko
K
Kageyama
Shinji
S
Kato
Motohiro
M
Ogawa
Seishi
S
Maekawa
Masato
M
Takamochi
Kazuya
K
Suzuki
Kazuya
K
Nakamura
Toshio
T
Sugimura
Haruhiko
H
D002282:Adenocarcinoma, Bronchiolo-Alveolar / Q000235:genetics / Q000473:pathology*; D000231:Adenocarcinoma, Papillary / Q000235:genetics / Q000473:pathology*; D011125:Adenomatous Polyposis Coli / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D000328:Adult; D003106:Colon / Q000601:surgery; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D005784:Gene Amplification; D018628:Gene Dosage; D017491:Genes, APC; D018095:Germ-Line Mutation; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics / Q000473:pathology*; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
D004273:DNA, Neoplasm