Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands.
Department of Gastroenterology, Netherlands Cancer Institute/Antoni van Leeuwenhoek, Amsterdam, the Netherlands.
Gastrointest Endosc. 2018 Feb;87(2):397-404.e2. doi: 10.1016/j.gie.2017.04.016. Epub 2017 Apr 25.
The aim of this study was to determine the yield of endoscopic screening in first-degree relatives (FDRs) of CDH1-negative hereditary diffuse-type gastric cancer (HDGC) patients.
In this retrospective observational cohort study, in 2 expert centers in the Netherlands data were collected on FDRs from families fulfilling the international HDGC criteria that underwent endoscopic screening. Extensive inspection of the stomach was performed by gastroscopy, taking random and/or targeted stomach biopsy specimens to identify diffuse-type gastric cancer.
Between 2004 and 2016, 90 persons (40% men; mean age, 48 years) from 40 families were offered endoscopic screening. The mean number of endoscopies per person was 3. The mean follow-up time was 46 months and mean endoscopic interval 20 months. Signet ring cell carcinoma foci restricted to the mucosa (pT1a) were identified in 4 persons (4%) from 1 family, which afterward was diagnosed with a germline CTNNA1 mutation. Advanced poorly cohesive gastric carcinoma was diagnosed in 1 person from another family. Intestinal metaplasia was diagnosed in 38 persons (42%) and low-grade dysplasia in 4 persons (4%). Additionally, in 40 persons (44%) scar tissue was observed in the gastric mucosa, which can hinder the endoscopic detection of small white lesions typical for HDGC.
Endoscopic screening in HDGC families without a pathogenic CDH1 mutation may be reasonable, as we detected signet ring cell carcinomas in 6% of persons screened. However, the criteria and frequency of screening may have to be reconsidered.
本研究旨在确定 CDH1 阴性遗传性弥漫型胃癌（HDGC）患者一级亲属（FDR）内镜筛查的检出率。
本回顾性观察性队列研究在荷兰的 2 个专家中心进行，收集符合国际 HDGC 标准且接受内镜筛查的家族中 FDR 的数据。通过胃镜对胃进行广泛检查，随机或靶向采集胃活检标本以识别弥漫型胃癌。
2004 年至 2016 年间，40 个家族的 90 人（40%为男性；平均年龄为 48 岁）接受了内镜筛查。每人平均接受内镜检查 3 次。平均随访时间为 46 个月，内镜间隔时间为 20 个月。在 1 个家族的 4 人中（4%）发现局限于黏膜的印戒细胞癌灶（pT1a），该家族随后被诊断为种系 CTNNA1 突变。另一个家族的 1 人被诊断为进展期非黏附性胃癌。38 人（42%）被诊断为肠上皮化生，4 人（4%）被诊断为低级别上皮内瘤变。此外，在 40 人（44%）中观察到胃黏膜的疤痕组织，这可能会阻碍对 HDGC 典型的小白色病变的内镜检测。
在无致病性 CDH1 突变的 HDGC 家族中进行内镜筛查可能是合理的，因为我们在接受筛查的人群中发现了 6%的印戒细胞癌。然而，筛查的标准和频率可能需要重新考虑。
