目的:青少年息肉综合征(JPS)中胃癌(GC)的真实发生率未知,因为其罕见且在已发表的文献中存在确定偏差。为了更好地评估这一点,我们进行了系统评价和荟萃分析.
方法:MEDLINE,Embase,搜索了Scopus数据库中的关键词青少年息肉综合征,幼年性息肉,胃癌,GC,SMAD4,BMPR1A,错构瘤性息肉病综合征,错构瘤,和遗传性癌症,用于报告JPS上消化道表现的研究。主要结果是JPS中报告的GC发生。然后,我们根据致病性种系变体(PGV)的存在或不存在以及未测试的患者比较了GC的发生。
结果:共纳入11项研究,包括637例患者。GC的合并发生率为3.5%(95%置信区间[CI],1.8-5.2;I2=12.3%),中位年龄为42.5岁(范围,15-57.6)。SMAD4PGV患者的GC合并发生率为10.1%(95%CI,3.2-16.8%;I2=54.7%)。仅在1种BMPR1APGV载体中报告了GC,而在没有可识别的PGV的患者中未报告。在先前进行生殖系测试的患者中,SMAD4PGV携带者的GC风险更高(比值比,11.6;95%CI,4.6-29.4;I2=18.3%)与无SMAD4PGV的患者相比。在种系检测状态未知的JPS患者中,合并的GC发生率为7.5%(95%CI,0-15.5)。研究中总体上存在中等偏倚风险。
结论:GC在SMAD4相关的JPS中最高,在没有可识别的PGV的患者中未报告。BMPR1APGV携带者和没有可识别PGV的JPS患者的GC监测价值值得怀疑。应在所有JPS患者中进行生殖系测试,以告知GC风险讨论和监测的实用性。
The true rate of gastric cancer (GC) in juvenile polyposis syndrome (JPS) is unknown because of its rarity and ascertainment bias in published literature. To better assess this, we conducted a systematic
review and meta-analysis.
MEDLINE, Embase, and Scopus databases were searched for the key words juvenile polyposis syndrome, juvenile polyps, stomach cancer, GC, SMAD4, BMPR1A, hamartomatous polyposis syndrome, hamartomas, and hereditary cancers for studies reporting upper GI manifestations in JPS. The primary outcome was the reported occurrence of GC in JPS. We then compared GC occurrence based on the presence or absence of pathogenic germline variants (PGVs) and in untested patients.
Eleven studies including 637 patients were included. The pooled occurrence of GC was 3.5% (95% confidence interval [CI], 1.8-5.2; I2 = 12.3%) at a median age of 42.5 years (range, 15-57.6). The pooled occurrence of GC in patients with SMAD4 PGV was 10.1% (95% CI, 3.2-16.8%; I2 = 54.7%). GC was reported in only 1 BMPR1A PGV carrier and was not reported in patients without an identifiable PGV. In patients with prior germline testing, the risk of GC was higher in SMAD4 PGV carriers (odds ratio, 11.6; 95% CI, 4.6-29.4; I2 = 18.3%) compared with patients without SMAD4 PGV. In JPS patients with unknown status of germline testing, pooled occurrence of GC was 7.5% (95% CI, 0-15.5). There was an overall moderate risk of bias in the studies.
GC is highest in SMAD4-associated JPS and was not reported in patients without identifiable PGVs. The value of GC surveillance in BMPR1A PGV carriers and JPS patients without an identifiable PGV is questionable. Germline testing should be performed in all JPS patients to inform GC risk discussion and utility of surveillance.