Department for Medicine (Gastroenterology, Infectious Diseases, Rheumatology), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 12203 Berlin, Germany.
Curr Oncol. 2022 Mar 30;29(4):2454-2460. doi: 10.3390/curroncol29040199.
Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant inherited cancer syndrome that has been associated with a mutation of the , and rarely the gene, respectively. HDGC is characterized histologically by multifocal growth and signet ring cells in the gastric mucosa and lobular type breast cancer. In cases of a proven pathogenic mutation, a prophylactic gastrectomy, or alternatively, an annual surveillance gastroscopy in expert centers is recommended. Additionally, MR imaging of the breast should be performed annually starting from the age of 30, to detect lobular breast cancer. In 2020, the International Gastric Cancer Linkage Consortium (IGCLC) additionally defined new clinical groups with specific recommendations: (1) the group of patients with a proven mutation in the gene, but exclusive manifestation as lobular breast cancer, was defined as hereditary lobular breast cancer (HLBC); (2) the group, which clinically fulfills familial HDGC criteria, in the absence of a relevant mutation, was designated as HDGC-like. This update summarizes relevant aspects of hereditary gastric cancer and the current recommendation criteria of the IGCLC published in 2020.
遗传性弥漫型胃癌（HDGC）是一种常染色体显性遗传性癌综合征，分别与 和 基因的突变相关。HDGC 在组织学上的特征是胃黏膜多灶性生长和印戒细胞，以及小叶型乳腺癌。在证实存在致病性 突变的情况下，建议预防性胃切除术，或在专家中心每年进行一次内窥镜监测。此外，应从 30 岁开始每年进行乳腺磁共振成像（MRI），以检测小叶乳腺癌。2020 年，国际胃癌连锁联盟（IGCLC）还定义了具有特定建议的新临床分组：（1）明确存在 基因突变但仅表现为小叶乳腺癌的患者组被定义为遗传性小叶乳腺癌（HLBC）；（2）临床符合家族性 HDGC 标准但无相关突变的患者组被指定为 HDGC 样。本更新总结了遗传性胃癌的相关方面以及 2020 年 IGCLC 发布的当前推荐标准。
