Yamada Masayoshi, Fukagawa Takeo, Nakajima Takeshi, Asada Kiyoshi, Sekine Shigeki, Yamashita Satoshi, Okochi-Takada Eriko, Taniguchi Hirokazu, Kushima Ryoji, Oda Ichiro, Saito Yutaka, Ushijima Toshikazu, Katai Hitoshi
Endoscopy Division, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.
Gastric Cancer. 2014 Oct;17(4):750-6. doi: 10.1007/s10120-013-0298-y. Epub 2013 Sep 15.
Hereditary diffuse gastric cancer (HDGC), characterized by susceptibility to gastric signet ring cell carcinomas (SRCCs) and caused by CDH1 germline mutations, is rare in the Japanese. We present here a Japanese family with HDGC identified by comparative genomic hybridization (CGH) analysis. A 55-year-old woman was treated with completion gastrectomy for multiple SRCCs, and pathological examination revealed approximately 200 foci of SRCC with loss of E-cadherin expression. Her 30-year-old son had surveillance endoscopy and was found to have multiple SRCCs. He underwent total gastrectomy, and 32 foci of SRCC with loss of E-cadherin expression were histologically found. Although no point mutations were detected in CDH1 by sequencing, CGH revealed a 275-kb deletion involving exons 7-16 of CDH1 in both patients. While only a few HDGCs have been reported in East Asia, patients with multiple SRCC may need to be offered appropriate genetic counseling and testing in this area.
遗传性弥漫性胃癌（HDGC）以易患胃印戒细胞癌（SRCC）为特征，由CDH1种系突变引起，在日本人中较为罕见。我们在此介绍一个通过比较基因组杂交（CGH）分析鉴定出的HDGC日本家族。一名55岁女性因多发性SRCC接受了根治性胃切除术，病理检查发现约200个SRCC病灶，E-钙黏蛋白表达缺失。她30岁的儿子接受了内镜监测，发现患有多发性SRCC。他接受了全胃切除术，组织学检查发现32个E-钙黏蛋白表达缺失的SRCC病灶。虽然测序未在CDH1中检测到点突变，但CGH显示两名患者均存在一个275 kb的缺失，涉及CDH1的外显子7至16。虽然东亚地区仅报道了少数HDGC病例，但在该地区，患有多发性SRCC的患者可能需要接受适当的遗传咨询和检测。
