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.
First Department of Pathology, Hamamastsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
Kazuya
K
Shinmura
Masaya
M
Suzuki
Hidetaka
H
Yamada
Hong
H
Tao
Masanori
M
Goto
Takaharu
T
Kamo
Kiyoko
K
Nagura
Shinji
S
Kageyama
Motohiro
M
Kato
Seishi
S
Ogawa
Masato
M
Maekawa
Kazuya
K
Takamochi
Kazuya
K
Suzuki
Toshio
T
Nakamura
Haruhiko
H
Sugimura
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