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Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas.
Familial Cancer ( IF 1.8 ) Pub Date : 2020-09-11 , DOI: 10.1007/s10689-020-00206-0
George Kunnackal John 1, 2 , Vipin Das Villgran 3 , Christine Caufield-Noll 4 , Francis Giardiello 5
Affiliation  

To perform a systematic assessment of universal Lynch syndrome (LS) screening yield in colorectal cancer (CRC) patients around the world. Universal screening for LS is recommended in all CRC patients. However, the variation in yield of LS screening in the setting of significant global variation in CRC prevalence is unknown. A systematic review of articles in the MEDLINE database was performed to identify studies performing universal screening for LS. All cases with microsatellite instability (MSI-H) or missing one or more proteins on immunohistochemistry (IHC) were considered screening positive. The overall pooled yield of universal LS screening in 97 study arms from 89 identified studies was 11.9% (5649/47545) and the overall pooled percentage of confirmed LS patients was 1.8% (682/37220). LS screening positivity varied significantly based on geographic region (Kruskal Wallis test, p < 0.001) and reported 5-year CRC prevalence in the country (Fisher’s exact, p < 0.001). Significant inverse correlation was found between LS screening positivity and 5-year CRC prevalence (Pearson correlation, r = − 0.56, p < 0.001). The overall yield of LS screening was 15.00% (382/2553) and rate of confirmed LS was 7.7% (113/1475) in LS screening done in patients ≤ 50 years (16 studies). There is significant geographic variation in LS screening positivity with higher yield in countries with lower prevalence of CRC. Our results highlight the importance of universal LS screening in younger patients and low CRC prevalence countries.



中文翻译:

林奇综合征筛查的全球差异:结直肠癌低流行地区普遍筛查的案例。

对全球结直肠癌 (CRC) 患者的普遍林奇综合征 (LS) 筛查率进行系统评估。建议对所有 CRC 患者进行 LS 普遍筛查。然而,在 CRC 患病率全球显着变化的情况下,LS 筛查的产量变化是未知的对 MEDLINE 数据库中的文章进行了系统审查,以确定对 LS 进行普遍筛查的研究。所有具有微卫星不稳定性 (MSI-H) 或免疫组织化学 (IHC) 中缺少一种或多种蛋白质的病例均被视为筛查阳性。来自 89 项已确定研究的 97 个研究组的通用 LS 筛查的总合并率为 11.9% (5649/47545),确诊 LS 患者的总合并百分比为 1.8% (682/37220)。LS 筛查阳性率因地理区域(Kruskal Wallis 检验,p < 0.001)和该国报告的 5 年 CRC 患病率而异(Fisher 精确值,p < 0.001)。在 LS 筛查阳性率和 5 年 CRC 患病率之间发现了显着的负相关(Pearson 相关性,r = - 0.56,p < 0.001)。LS筛选的总产量为15。00% (382/2553) 和确诊的 LS 率为 7.7% (113/1475) 在 LS 筛查中对 ≤ 50 岁的患者进行(16 项研究)。在 CRC 患病率较低的国家,LS 筛查阳性率存在显着地域差异,且产量较高。我们的结果强调了对年轻患者和低 CRC 患病率国家进行普遍 LS 筛查的重要性。

更新日期:2020-09-11
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