de Moraes Francisco Cezar Aquino, Moretti Nayara Rozalem, Sano Vitor Kendi Tsuchiya, Ngan Cristiane Wen Tsing, Burbano Rommel Mario Rodríguez
Federal University of Pará, Belém, Pará, 66073-005, Brazil.
University of Western São Paulo, Presidente Prudente, 19050-920, Brazil.
Int J Colorectal Dis. 2024 Dec 15;39(1):201. doi: 10.1007/s00384-024-04776-8.
Colorectal cancer (CRC) and polypoid syndromes are significant public health concerns, with somatic mosaicism playing a crucial role in their genetic diversity. This study aimed to investigate the prevalence and impact of somatic mosaicism in these conditions.
A search was conducted using PubMed, Scopus, and Web of Sciences to identify studies evaluating mosaicism in patients with CRC or polyposis syndromes. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to determine prevalence rates. Statistical analyses were performed using R software 4.3.
A total of 27 studies, encompassing 2272 patients, were included in the analysis. Of these, 108 patients exhibited somatic mosaicism, resulting in an overall prevalence of 8.79% (95% CI 5.1 to 14.70%, I = 85; p < 0.01). Subgroup analyses revealed a significantly higher prevalence of mosaicism in patients with APC mutations (OR 13.43%, 95% CI 6.36 to 26.18%, I = 87; p < 0.01). Additionally, mosaicism in MLH1 and MSH2 genes was observed at rates of 2.75% (95% CI 1.20 to 6.18%) and 9.69% (95% CI 2.98 to 27.24%), respectively.
Our findings support the growing recognition of mosaicism as a critical factor in CRC susceptibility and underscore the importance of incorporating mosaicism screening into routine genetic testing for at-risk patients.
结直肠癌（CRC）和息肉样综合征是重大的公共卫生问题，体细胞镶嵌现象在其遗传多样性中起着关键作用。本研究旨在调查这些疾病中体细胞镶嵌现象的患病率及其影响。
使用PubMed、Scopus和Web of Sciences进行检索，以确定评估CRC或息肉病综合征患者中镶嵌现象的研究。计算具有95%置信区间（CI）的优势比（OR）以确定患病率。使用R软件4.3进行统计分析。
共有27项研究，涵盖2272名患者，纳入分析。其中，108名患者表现出体细胞镶嵌现象，总体患病率为8.79%（95%CI 5.1%至14.70%，I=85；p<0.01）。亚组分析显示，APC突变患者中镶嵌现象的患病率显著更高（OR 13.43%，95%CI 6.36%至26.18%，I=87；p<0.01）。此外，MLH1和MSH2基因的镶嵌现象发生率分别为2.75%（95%CI 1.20%至6.18%）和9.69%（95%CI 2.98%至27.24%）。
我们的研究结果支持越来越多的人认识到镶嵌现象是CRC易感性的关键因素，并强调将镶嵌现象筛查纳入高危患者常规基因检测的重要性。
