Gastroenterology:遗传性弥漫性胃癌患者内镜特征研究

2019-04-09 MedSci MedSci原创

研究认为,有半数以上的CDH 1种系变异个体在内镜和/或胃切除术中有DGC的组织病理学证据,但DGC家族史和内镜检查结果不能作为遗传易感性DGC个体SRCC风险的决定因素。

CDH 1基因与弥漫性癌(DGC)和小叶性乳腺癌风险增加相关。目前由于内镜检测灵敏度有限,因此建议对病源性或可能致病性(PLP)的CDH1携带者进行预防切除术。近日研究人员考察了DGC家族史与CDH 1中 PLP携带者内镜结果的相关性。

1998-2018年间,研究人员对 13个有CDH1种系PLP变体的家庭进行了评估。对有无DGC家族史的个体进行食管、胃、十二指肠镜检查、组织病理学分析和手术结果进行比较。

研究共考察了20例生殖细胞CDH 1型PLP变异携带者,患者接受了内镜检查和/或胃切除术,所有患者内镜检查均无异常。20人中有12人检测到印戒细胞癌(SRCC)。除了一种以外,所有的癌病变均是微小的,且仅限于固有层薄层,1种癌病变为透壁病变。在12名SRCC患者中,有7名的一级亲属未诊断出DGC。

研究认为,有半数以上的CDH 1种系变异个体在内镜和/或胃切除术中有DGC的组织病理学证据,但DGC家族史和内镜检查结果不能作为遗传易感性DGC个体SRCC风险的决定因素。

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    2019-10-12 许安
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    2019-04-10 王秀

    学习了,涨知识了!

    0

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