胃と腸43巻2号

2008年02月発行

今月の主題 消化管GIST―診断・治療の新展開

主題

GISTの臨床病理学的特徴と遺伝子異常

著者： 山元英崇¹ 八尾隆史¹ 今村公一¹ 中村典資¹ 小嶋綾¹ 恒吉正澄¹

所属機関： ¹九州大学大学院医学研究院形態機能病理学

ページ範囲：P.127 - P.136

文献概要

要旨　胃腸管間質細胞腫瘍（GIST）は消化管に発生する間葉系腫瘍で最も多く，その大半はKIT蛋白を発現する．高頻度にKIT遺伝子異常を有し，少数例ではPDGFRA変異を有する．これまでの研究で，KIT/PDGFRA変異亜型は，GISTの発生部位，細胞型，KIT蛋白発現，予後と相関があることがわかってきた．また，消化管外にもGIST同様の組織像，KIT/PDGFRA遺伝子異常を有する腫瘍が存在することも明らかとなった．KIT蛋白をターゲットとした分子標的治療薬も開発され一定の効果がみられるが，今後はさらに個々の臨床病理学的特徴や遺伝子異常に応じた治療が期待される．

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