将家族史作为结直肠癌微卫星不稳定性筛查的主要先决条件,是一种糟糕的选择工具。

IF 3.8 Q2 GASTROENTEROLOGY & HEPATOLOGY Translational gastroenterology and hepatology Pub Date : 2024-03-27 eCollection Date: 2024-01-01 DOI:10.21037/tgh-23-71
Daniel Jakob, Valerie Orth, Daniel Gödde, Hubert Zirngibl, Peter C Ambe
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引用次数: 0

摘要

背景:据认为,15%以上的结直肠癌(CRC)病例存在错配修复(MMR)缺陷,导致肿瘤微卫星不稳定(MSI)。对 CRC 进行 MSI 检测历来都是在符合临床标准后才被推荐的。然而,临床标准(尤其是家族史)作为 CRC MSI 筛查的选择工具,其效果值得怀疑:我们回顾性地调查了未经筛选的 CRC 患者人群中高度 MSI(MSI-H)肿瘤的发病率,并比较了根据修订后的贝塞斯达标准所定义的 MSI-H 肿瘤谱系中,有家族史和无家族史患者的发病率:研究对象包括274名患者,其中70人有MSI-H肿瘤阳性家族史,204人无家族史,数据完整,包括MSI分析结果。MSI-H CRC的总发病率为18.98%。两组患者的 MSI-H CRC 发生率在统计学上无明显差异。在这一群体中,家族史对是否存在MSI-H肿瘤的敏感性和特异性分别为36.5%和77.5%:仅根据家族史等临床标准进行筛查可能会遗漏大量高MSI-H肿瘤病例。因此,建议对所有 CRC 病例进行独立于临床特征(尤其是癌症家族史)的系统筛查。
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Family history as a major prerequisite for microsatellite instability screening in colorectal cancer is a poor selection tool.

Background: Deficient mismatch repair (MMR) leading to microsatellite instability (MSI) in tumors is thought to be present in over 15% of colorectal cancer (CRC) cases. Testing CRC for MSI has traditionally been recommended following the fulfillment of clinical criteria. However, the performance of clinical criteria, especially the family history, as a selection tool for MSI screening in CRC is questionable.

Methods: We retrospectively investigated the incidence of high degree MSI (MSI-H) tumors in an unselected population of CRC patients and compared its prevalence between individuals with and without family history of cancers within the spectrum of MSI-H tumors as defined in the revised Bethesda criteria.

Results: The study population included 274 patients, 70 with positive and 204 without family history of MSI-H tumors with complete data including findings from MSI analysis. The overall incidence of MSI-H CRC was 18.98%. There was no statistically significant difference in the incidence of MSI-H CRC amongst both groups. The sensitivity and specificity of family history with regard to the presence of an MSI-H tumor in this collective was 36.5% and 77.5%, respectively.

Conclusions: A relevant number of cases with high MSI-H CRC may be missed secondary to screening based on clinical criteria like family history alone. Thus, systematic screening independent of clinical characteristics, especially family history of cancer should be recommended in all cases with CRC.

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