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要旨●患者は20歳代,女性.父親が遺伝性びまん性胃癌(HDGC)と診断されたことを契機に遺伝学的検査を施行し,CDH1遺伝子に病的バリアント(c.454C>T, p.Gln152Ter)を認めたため,HDGCと診断された.上部消化管内視鏡では,胃体下部から前庭部にかけて褪色調病変を7か所認め,生検で印環細胞癌(SRCC)が検出された.腹腔鏡下胃全摘術を施行し,切除標本を精査した結果,計61病変を認め,うち52病変(85%)が胃上部(U領域)に集中していた.U領域の病変はいずれも内視鏡的に検出されておらず,HDGCにおける内視鏡サーベイランスの限界と診断精度向上の必要性を示すものと考えられた.
A woman in her 20s underwent genetic testing after her father was diagnosed with hereditary diffuse gastric cancer(HDGC), which identified a pathogenic germline variant in the CDH1 gene(c.454C>T, p.Gln152Ter). Consequently, she too was diagnosed with HDGC. Upper gastrointestinal endoscopy revealed seven pale lesions from the lower gastric body to the antrum, which were all diagnosed as signet-ring cell carcinoma on biopsy. Subsequently, she underwent laparoscopic total gastrectomy. Histopathological examination of the resected specimens revealed a total of 61 intramucosal lesions, 52(85%)of which were located in the upper stomach(U region). Surprisingly, preoperative endoscopy failed to detect any lesions in the U region. The present case illustrates the limitations of endoscopic surveillance in HDGC and signifies the need to enhance diagnostic accuracy, especially for detecting lesions in the anatomically challenging U region.

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