与林奇综合征相关的子宫内膜癌的比例：对文献和荟萃分析的系统评价。,Genetics in Medicine

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与林奇综合征相关的子宫内膜癌的比例：对文献和荟萃分析的系统评价。
Genetics in Medicine ( IF 6.6 ) Pub Date : 2019-05-14 , DOI: 10.1038/s41436-019-0536-8
N A J Ryan _{1,

2} , M A Glaire ₃ , D Blake ₄ , M Cabrera-Dandy ₅ , D G Evans _{2,

6} , E J Crosbie _{1,

7}

Affiliation

目的子宫内膜癌 (EC) 通常是 Lynch 综合征 (LS) 女性的前哨癌。然而，由于缺乏详细说明预期筛查 LS 阳性的 EC 患者比例的证据，阻碍了在 EC 患者中实施通用 LS 筛查的努力。方法通过 Medline、Embase、Cochrane CENTRAL 和 Web of Science 的电子搜索确定研究。通过随机和固定效应荟萃分析模型计算测试阳性的比例。I2 评分用于评估研究间的异质性。结果 53 项研究，包括 12,633 名 EC 患者，符合纳入标准。免疫组化 (IHC) 显示具有微卫星不稳定性或错配修复 (MMR) 缺陷的子宫内膜肿瘤的总体比例为 0.27（95% 置信区间 [CI] 0.25-0.28，I2：71%）和 0。26 (95% CI 0.25-0.27, I2: 88%)。在那些肿瘤检测异常的女性中，0.29 (95% CI 0.25-0.33, I2: 83%) 在生殖系检测中有 LS 相关的致病变异；因此，大约 3% 的 EC 可归因于 LS。EC 病例的预选确实增加了生殖系 LS 诊断的比例。结论目前的研究表明，EC 患者 LS 的患病率约为 3%，与结直肠癌患者相似；因此，我们的数据支持对 LS 实施通用 EC 筛查。结论目前的研究表明，EC 患者 LS 的患病率约为 3%，与结直肠癌患者相似；因此，我们的数据支持对 LS 实施通用 EC 筛查。结论目前的研究表明，EC 患者 LS 的患病率约为 3%，与结直肠癌患者相似；因此，我们的数据支持对 LS 实施通用 EC 筛查。

"点击查看英文标题和摘要"

The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis.

PURPOSE Endometrial cancer (EC) is often the sentinel cancer in women with Lynch syndrome (LS). However, efforts to implement universal LS screening in EC patients have been hampered by a lack of evidence detailing the proportion of EC patients that would be expected to screen positive for LS. METHODS Studies were identified by electronic searches of Medline, Embase, Cochrane CENTRAL and Web of Science. Proportions of test positivity were calculated by random and fixed-effects meta-analysis models. I2 score was used to assess heterogeneity across studies. RESULTS Fifty-three studies, including 12,633 EC patients, met the inclusion criteria. The overall proportion of endometrial tumors with microsatellite instability or mismatch repair (MMR) deficiency by immunohistochemistry (IHC) was 0.27 (95% confidence interval [CI] 0.25-0.28, I2: 71%) and 0.26 (95% CI 0.25-0.27, I2: 88%), respectively. Of those women with abnormal tumor testing, 0.29 (95% CI 0.25-0.33, I2: 83%) had LS-associated pathogenic variants on germline testing; therefore around 3% of ECs can be attributed to LS. Preselection of EC cases did increase the proportion of germline LS diagnoses. CONCLUSION The current study suggests that prevalence of LS in EC patients is approximately 3%, similar to that of colorectal cancer patients; therefore our data support the implementation of universal EC screening for LS.

更新日期：2019-05-16

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