胃と腸58巻12号

2023年12月発行

今月の主題 遺伝性消化管疾患を考える 主題

遺伝性胃癌：病態解析と診断の進歩—胃腺癌および近位胃ポリポーシス（GAPPS）を中心に

著者： 岡本耕一¹ 三井康裕¹ 吉本貴則¹ 藤本将太¹ 三橋威志¹ 上田浩之¹ 横山怜子¹ 川口智之¹ 影本開三¹ 喜田慶史¹ 中村文香¹ 佐藤康史¹ 春藤譲治² 坂東良美³ 九嶋亮治⁴ 高山哲治¹

所属機関： ¹徳島大学大学院医歯薬学研究部消化器内科学 ²春藤内科胃腸科 ³徳島大学病院病理部 ⁴滋賀医科大学医学部病理学講座・臨床検査医学講座

ページ範囲：P.1589 - P.1601

要旨●胃腺癌および近位胃ポリポーシス（gastric adenocarcinoma and proximal polyposis of the stomach ; GAPPS）は胃底腺ポリポーシスを背景とした胃癌を発生する常染色体顕性遺伝性疾患である．その原因としてAPC遺伝子promoter 1Bの病的バリアントが報告されている．GAPPSは欧米を中心に報告が散見されるようになり，近年になって本邦からも報告が認められるようになった．GAPPSの自然史はいまだ不明な点が多く，今後，より大規模な調査によりGAPPSの臨床病理学的特徴，病態およびサーベイランスのあり方について検討する必要がある．本稿では遺伝性胃癌であるGAPPSおよび遺伝性びまん性胃癌（hereditary diffuse gastric cancer ; HDGC）について最新の知見を交えて解説する．

参考文献

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