［総論］遺伝性消化管腫瘍の病理とその周辺

Pathology of hereditary gastrointestinal neoplasms and associated issues

要旨

　遺伝性腫瘍症候群の理解は，消化器内視鏡医にとっても重要な課題である。本稿では，特に消化管に腫瘍や腫瘍様病変をきたしやすい遺伝性疾患を取り上げ，それらの病理学的特徴および病理診断の現状を概説した。さらに，遺伝性疾患診療における病理医の役割についても言及した。近年では，がんゲノム医療の体制整備が進み，診療の過程で得られる二次的所見から遺伝性腫瘍症候群が発見される機会も増えてきている。消化器内視鏡医にとっては，消化管腫瘍の特徴を的確に把握することが，診断の契機や診断後のサーベイランスにおいて，遺伝性腫瘍症候群の診療に貢献する鍵となる。

　Understanding hereditary tumor syndromes is an important issue for gastrointestinal endoscopists. In this article, we focus on hereditary disorders that frequently give rise to tumors or tumor-like lesions in the gastrointestinal tract and provide an overview of their pathological features and the current status of pathological diagnosis. We also discuss the role of pathologists in the management of these hereditary diseases. In recent years, the establishment of cancer genomic medicine systems has led to an increasing number of cases in which hereditary tumor syndromes are incidentally identified through secondary findings during clinical evaluation. For gastrointestinal endoscopists, a precise understanding of the characteristics of gastrointestinal tumors is essential for contributing to the diagnosis and post-diagnostic surveillance of hereditary tumor syndromes.