Dardenne Antoine, Sirmai Laura, Metras Julie, Enea Diana, Svrcek Magali, Benusiglio Patrick R
AP-HP, hôpital Pitié-Salpêtrière, Sorbonne université, institut universitaire de cancérologie, UF d'oncogénétique clinique, département de génétique médicale, 47-83, boulevard de l'Hôpital, 75013 Paris, France; AP-HP, hôpital Saint-Antoine, Sorbonne université, service de chirurgie générale et digestive, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France.
AP-HP, hôpital Saint-Antoine, Sorbonne université, centre d'endoscopie digestive, 184, rue du Faubourg Saint-Antoine, 75012 Paris, France.
Bull Cancer. 2023 May;110(5):512-520. doi: 10.1016/j.bulcan.2022.06.010. Epub 2022 Aug 11.
About 5% of gastric cancers are associated with hereditary cancer syndromes. Histology is paramount in this context, as major susceptibility genes are associated with specific subtypes. Germline pathogenic variants in CDH1 and CTNNA1 cause Hereditary Diffuse Gastric Cancer (HDGC). Major advances have been made in the past ten years regarding HDGC. Penetrance estimates for diffuse cancer are now lower than previously thought, at 30-40%. Surveillance upper gastrointestinal endoscopy is now an acceptable alternative to prophylactic total gastrectomy. Indeed, its sensitivity in detecting advanced disease is satisfactory assuming it is performed by an expert and according to a specific protocol. The risk of intestinal-type gastric cancer is increased in patients with Lynch syndrome, although it is much lower than the risk of colorectal and endometrial cancer. Intestinal-type gastric cancers are also observed in excess in patients with hereditary polyposis, the main one being APC-associated familial adenomatous polyposis. The main and most clinically relevant manifestations in patients with polyposes remain colorectal and duodenal polyps and carcinomas, well ahead of gastric cancer. Finally, recent data point towards increased gastric cancer risk in hereditary breast and ovarian cancer.
约5%的胃癌与遗传性癌症综合征相关。在这种情况下，组织学至关重要，因为主要的易感基因与特定亚型相关。CDH1和CTNNA1中的种系致病变异会导致遗传性弥漫性胃癌（HDGC）。在过去十年中，HDGC方面取得了重大进展。目前弥漫性癌症的外显率估计低于此前认为的水平，为30%-40%。监测性上消化道内镜检查现在是预防性全胃切除术的一种可接受的替代方法。事实上，假设由专家按照特定方案进行操作，其在检测进展期疾病方面的敏感性是令人满意的。林奇综合征患者患肠型胃癌的风险增加，尽管其远低于患结直肠癌和子宫内膜癌的风险。遗传性息肉病患者中肠型胃癌也有额外增加，主要是与APC相关的家族性腺瘤性息肉病。息肉病患者主要且最具临床相关性的表现仍然是结直肠和十二指肠息肉及癌，胃癌的发生远在其后。最后，最新数据表明遗传性乳腺癌和卵巢癌患者患胃癌的风险增加。
