Familial adenomatous polyposis-associated and sporadic pyloric gland adenomas of the upper gastrointestinal tract share common genetic features

Taiki Hashimoto, Reiko Ogawa, Akiko Matsubara, Hirokazu Taniguchi, Kokichi Sugano, Mineko Ushiama, Teruhiko Yoshida, Yae Kanai, Shigeki Sekine

研究成果: Article査読

34 被引用数 (Scopus)

抄録

Aims: Familial adenomatous polyposis (FAP) is a hereditary cancer predisposition syndrome caused by a germline APC mutation. A recent study showed the enrichment of pyloric gland adenomas (PGAs) of the stomach, in addition to fundic gland polyps (FGPs) and foveolar-type adenomas (FAs), in patients with FAP. In the present study, we analysed the genetic alterations in these FAP-associated gastric lesions. Methods and results: Mutational statuses of GNAS and KRAS, which are frequently mutated in sporadic PGAs, as well as those of APC, were examined in PGAs, FAs and FGPs in patients with FAP using Sanger sequencing. Our analysis identified GNAS mutations in five of six PGAs (83%), but in none of the three FAs or the 40 FGPs examined. KRAS mutations were identified in four PGAs (67%), one FA (33%) and one FGP (3%). Somatic truncating APC mutations were found in all PGAs (100%), two FAs (67%) and 14 FGPs (47%). We additionally analysed sporadic PGAs of the stomach and duodenum and identified truncating APC mutations in 11 of 25 lesions (44%). Conclusions: FAP-associated and sporadic PGAs not only show similar morphologies, but also share common genetic aberrations, including mutations of GNAS, KRAS and APC.

本文言語English
ページ(範囲)689-698
ページ数10
ジャーナルHistopathology
67
5
DOI
出版ステータスPublished - 2015 11
外部発表はい

ASJC Scopus subject areas

  • 病理学および法医学
  • 組織学

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