遺伝性びまん性胃癌の臨床病理学的・内視鏡的特徴

Clinicopathological and Endoscopic Features of Hereditary Diffuse Gastric Cancer

要旨●遺伝性びまん性胃癌（HDGC）は，CDH1またはCTNNA1の生殖細胞系列病的バリアントを原因とする常染色体顕性遺伝（優性遺伝）病である．印環細胞癌（SRCC）をはじめとしたびまん性胃癌（DGC）の発生リスクが高い．女性では，乳腺小葉癌（LBC）の発症リスクとも関連している．HDGCの診断には家族歴の聴取および遺伝学的検査と同様，上部消化管内視鏡検査（EGD）が重要であり，特に，多発褪色調病変部の生検でSRCCと病理診断された場合にはHDGCを疑う鍵となる．また，遺伝医療の介入による発端者および家系員の健康管理は家族ケアの助けになる．

　Hereditary diffuse gastric cancer（HDGC）is an autosomal dominantly inherited disease caused by germline pathogenic variants in CDH1 or CTNNA1. It is characterized by an increased risk of diffuse gastric cancer（DGC）, including signet-ring cell carcinoma（SRCC）. In women, HDGC is also known to increase the risk of developing lobular breast cancer. Upper gastrointestinal endoscopy, as well as family history and genetic testing, are important for diagnosing HDGC, particularly when SRCC is detected in multiple pale lesions. Genetic medical intervention also plays an important role, wherein promoting health management in probands and related family members through it can assist in family care.