Gastroenterology, Portuguese Oncology Institute of Porto, Portugal.
Pathology, Portuguese Oncology Institute of Porto, Portugal.
Rev Esp Enferm Dig. 2020 May;112(5):367-372. doi: 10.17235/reed.2020.6720/2019.
hereditary diffuse gastric cancer (HDGC) can be caused by a CDH1 mutation. It often presents as multiple foci of signet ring cell carcinoma (SRCC) that is rarely detected by gastroscopy. Prophylactic total gastrectomy is recommended at a young age. The aim of this study was to determine the adequacy of gastroscopy according to the Cambridge protocol in patients with a CDH1 mutation.
patients with a CDH1 mutation admitted to our department between September 2016 and October 2018 were evaluated. All patients underwent a baseline gastroscopy according to the Cambridge protocol, followed by a recommended total gastrectomy. Endoscopic findings, the number of biopsies and histological evaluation of biopsy samples were registered. Postoperative histopathological assessment was compared with endoscopic findings in patients that underwent a total gastrectomy (n = 13).
twenty-five patients were included and 35 gastroscopies performed. On these, 996 gastric biopsies were performed, which included 952 random and 44 targeted. Only three patients had SRCC foci in random biopsies and one also had SRCC lesions in two targeted biopsies. In our cohort, 332 random and 22 targeted biopsies were needed to identify a single SRCC focus. Total gastrectomy was performed in 13 patients and SRCC foci were identified in 12 surgical specimens, the remaining specimen had a precursor lesion of HDGC.
gastroscopy has a poor sensitivity to detect SRCC. Even with Cambridge protocol, gastroscopy has a very limited role in the surveillance of patients with a CDH1 mutation and prophylactic total gastrectomy is the most advisable option. Nevertheless, endoscopic protocols should be optimized to favor targeted biopsies over a high number of random biopsies.
遗传性弥漫性胃癌（HDGC）可由 CDH1 突变引起。它通常表现为多个印戒细胞癌（SRCC）病灶，这些病灶很少通过胃镜检测到。建议在年轻时进行预防性全胃切除术。本研究的目的是根据剑桥协议确定 CDH1 突变患者胃镜检查的充分性。
评估 2016 年 9 月至 2018 年 10 月期间我院收治的 CDH1 突变患者。所有患者均根据剑桥协议进行基线胃镜检查，随后行推荐的全胃切除术。登记内镜检查结果、活检数量和活检样本的组织学评估。将接受全胃切除术的患者（n=13）的术后组织病理学评估与内镜检查结果进行比较。
共纳入 25 例患者，共行 35 次胃镜检查。共进行 996 次胃活检，包括 952 次随机活检和 44 次靶向活检。仅 3 例患者在随机活检中发现 SRCC 病灶，1 例患者在 2 次靶向活检中也发现 SRCC 病变。在我们的队列中，需要 332 次随机活检和 22 次靶向活检才能发现单个 SRCC 病灶。13 例患者接受了全胃切除术，12 例手术标本中发现了 SRCC 病灶，其余标本为 HDGC 的前期病变。
胃镜检查对 SRCC 的敏感性较差。即使采用剑桥协议，胃镜检查在监测 CDH1 突变患者方面作用也非常有限，预防性全胃切除术是最明智的选择。然而，内镜检查方案应优化，以支持靶向活检而非大量随机活检。
