臨牀消化器内科 Vol.16 No.3(2)


特集名 消化管粘膜下腫瘍 -- 診断の進歩と治療方針
題名 c-kit遺伝子と消化管粘膜下腫瘍
発刊年月 2001年 03月
著者 西田 俊朗 大阪大学大学院医学系研究科機能制御外科学(第一外科)
著者 廣田 誠一 大阪大学大学院医学系研究科病理病態学(第一病理)
【 要旨 】 間葉系細胞由来の消化管粘膜下腫瘍の70~80%はGISTで,残りは筋原性腫瘍と神経原性腫瘍である.GISTはKIT蛋白質やCD34蛋白質を発現し形態学的にICCに類似しており,c-kit遺伝子のgain-of-function mutationはGISTの原因のーつである.c-kit遺伝子は力ハール細胞の発生分化に重要である.c-kit遺伝子機能の喪失は消化管運動障害を招き,c-kit遺伝子機能の亢進はGISTの発生を招くと考えられる.c-kit遺伝子変異は間葉系細胞由来の消化管粘膜下腫瘍の重要な予後因子である.
Theme Gastrointesinal Submucosal Tumor -- Advances in the Diagnosis and Treatment
Title The c-kit Gene and Gastrointestinal Submucosal Tumors
Author Toshirou Nishida Department of Surgery E1, Osaka University Graduate School of Medicine
Author Sei-ichi Hirota Department of Pathology, Osaka University Graduate School of Medicine
[ Summary ] Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the gastrointestinal tract and account for nearly 80% of gastrointes tinal mesenchymal tumors. Myogenic tumors account for 10% to 15%, and the remainders are neurogenic tumors. GISTs express KIT and CD 34 proteins, and show histological similarities to interstitial cells of Cajal (ICCs). Gain-of-function mutations in the c-kit gene cause GISTs and loss-of-function mutations are associated with lack of ICCs and intestinal pacemaker activity, which results in paralytic ileus. The c-kit gene is critical in differentiation and proliferation of ICCs, and mutations in the c-kit gene are an important prognostic factor for patients with gastrointestinal mesenchymal tumors.
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