Knipper Karl, Fuchs Hans F, Alakus Hakan, Bruns Christiane J, Schmidt Thomas
Klinik für Allgemein‑, Viszeral‑, Tumor- und Transplantationschirurgie, Uniklinik Köln, Kerpener Str. 62, 50937, Köln, Deutschland.
Chirurgie (Heidelb). 2023 May;94(5):400-405. doi: 10.1007/s00104-023-01806-z. Epub 2023 Jan 26.
Due to the increasing research into familial clustering of cancer entities, more and more genes are being identified in which mutations explain this clustering. Mutations in the cadherin 1 (CDH1) and catenin alpha 1 (CTNNA1) genes are considered to be causative for the occurrence of hereditary diffuse gastric cancer. Those affected show an incidence of gastric cancer of around 40% up to the age of 80 years and affected women show an incidence of 55% for the occurrence of lobular breast cancer. In 2020 updated international guidelines were published for the clinical management of patients with hereditary diffuse gastric cancer. When the specific test criteria are fulfilled, patients should undergo genetic testing for mutations in the CDH1 and CTNNA1 genes. In cases of the familial occurrence of diffuse gastric cancer and detection of a pathological mutation, a prophylactic total gastrectomy with D1 lymphadenectomy is recommended. Alternatively, or when pathological mutations are not detected, a gastroscopy should be performed annually with targeted and random biopsies. The occurrence of lobular breast cancer should be monitored annually by magnetic resonance imaging (MRI) from the age of 30 years onwards. A bilateral mastectomy for risk reduction should be discussed in a multidisciplinary setting.
由于对癌症实体家族聚集性的研究不断增加，越来越多的基因被鉴定出来，其中的突变可以解释这种聚集现象。钙黏蛋白1（CDH1）和连环蛋白α1（CTNNA1）基因的突变被认为是遗传性弥漫性胃癌发生的原因。这些患者在80岁之前患胃癌的几率约为40%，而患病女性患小叶乳腺癌的几率为55%。2020年发布了关于遗传性弥漫性胃癌患者临床管理的最新国际指南。当满足特定检测标准时，患者应接受CDH1和CTNNA1基因突变的基因检测。对于家族性弥漫性胃癌病例且检测到病理性突变的情况，建议行预防性全胃切除术加D1淋巴结清扫术。或者，当未检测到病理性突变时，应每年进行胃镜检查，并进行靶向和随机活检。从30岁起，应每年通过磁共振成像（MRI）监测小叶乳腺癌的发生情况。应在多学科环境中讨论双侧乳房切除术以降低风险。
