Objective: 

To describe the management of pathogenic CDH1 variant carriers (pCDH1vc) within the FREGAT (FRench Eso-GAsTric tumor) network. Primary objective focused on clinical outcomes and pathological findings, Secondary objective was to identify risk factor predicting postoperative morbidity (POM).

Background: 

Prophylactic total gastrectomy (PTG) remains the recommended option for gastric cancer risk management in pCDH1vc with, however, endoscopic surveillance as an alternative.

Methods: 

A retrospective observational multicenter study was carried out between 2003 and 2021. Data were reported as median (interquartile range) or as counts (proportion). Usual tests were used for univariate analysis. Risk factors of overall and severe POM (ie, Clavien-Dindo grade 3 or more) were identified with a binary logistic regression.

Results: 

A total of 99 patients including 14 index cases were reported from 11 centers. Median survival among index cases was 12.0 (7.6–16.4) months with most of them having peritoneal carcinomatosis at diagnosis (71.4%). Among the remaining 85 patients, 77 underwent a PTG [median age=34.6 (23.7–46.2), American Society of Anesthesiologists score 1: 75%] mostly via a minimally invasive approach (51.9%). POM rate was 37.7% including 20.8% of severe POM, with age 40 years and above and low-volume centers as predictors (P=0.030 and 0.038). After PTG, the cancer rate on specimen was 54.5% (n=42, all pT1a) of which 59.5% had no cancer detected on preoperative endoscopy (n=25).

Conclusions: 

Among pCDH1vc, index cases carry a dismal prognosis. The risk of cancer among patients undergoing PTG remained high and unpredictable and has to be balanced with the morbidity and functional consequence of PTG.

中文翻译：

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FREGAT 网络中致病性 CDH1 变异携带者的管理：一项多中心回顾性研究

客观的： 

描述 FREGAT（法国 Eso-GAsTric 肿瘤）网络中致病性CDH1变异携带者 (pCDH1vc) 的管理。主要目标侧重于临床结果和病理结果，次要目标是确定预测术后发病率 (POM) 的风险因素。

背景： 

预防性全胃切除术 (PTG) 仍然是 pCDH1vc 胃癌风险管理的推荐选择，但内镜监测作为替代方案。

方法： 

在 2003 年至 2021 年期间进行了一项回顾性观察性多中心研究。数据以中位数（四分位距）或计数（比例）报告。通常的测试用于单变量分析。使用二元逻辑回归确定总体和严重 POM（即 Clavien-Dindo 3 级或以上）的风险因素。

结果： 

11个中心共报告99例患者，包括14例指示病例。指示病例的中位生存期为 12.0 (7.6-16.4) 个月，其中大多数在诊断时患有腹膜癌病 (71.4%)。在其余 85 名患者中，77 名接受了 PTG [中位年龄 = 34.6 (23.7-46.2)，美国麻醉医师协会评分 1：75%]，主要通过微创方法 (51.9%)。POM 率为 37.7%，其中重度 POM 为 20.8%，以 40 岁及以上和低容量中心为预测因子（P = 0.030 和 0.038）。PTG后标本癌变率为54.5%（n=42，均为pT1a），其中59.5%术前内镜未检出癌变（n=25）。

结论： 

在 pCDH1vc 中，指示病例的预后不佳。接受 PTG 的患者患癌症的风险仍然很高且不可预测，必须与 PTG 的发病率和功能后果相平衡。