Chen Huang, Jiang Rui-Ying, Hua Zhan, Wang Xiao-Wei, Shi Xiao-Li, Wang Ye, Feng Qian-Qian, Luo Jie, Ning Wu, Shi Yan-Fen, Zhang Da-Kui, Wang Bei, Jie Jian-Zheng, Zhong Ding-Rong
Department of Pathology, China-Japan Friendship Hospital, Beijing 100029, China.
Department of Gastrointestinal Surgery, China-Japan Friendship Hospital, Beijing 100029, China.
World J Gastrointest Oncol. 2024 Jun 15;16(6):2673-2682. doi: 10.4251/wjgo.v16.i6.2673.
, , and mismatch repair (MMR)/microsatellite instability (MSI) are crucial biomarkers recommended by clinical practice guidelines for colorectal cancer (CRC). However, their characteristics and influencing factors in Chinese patients have not been thoroughly described.
To analyze the clinicopathological features of , , , and mutations and the DNA MMR status in CRC.
We enrolled 2271 Chinese CRC patients at the China-Japan Friendship Hospital. MMR proteins were tested using immunohistochemical analysis, and the mutations were determined using quantitative polymerase chain reaction. Microsatellite status was determined using an MSI detection kit. Statistical analyses were conducted using SPSS software and logistic regression.
The , , , and mutations were detected in 44.6%, 3.4%, 3.7%, and 3.9% of CRC patients, respectively. mutations were more likely to occur in patients with moderate-to-high differentiation. mutations were more likely to occur in patients with right-sided CRC, poorly differentiated, or no perineural invasion. Deficient MMR (dMMR) was detected in 7.9% of all patients and 16.8% of those with mucinous adenocarcinomas. , , , and mutations were detected in 29.6%, 1.1%, 8.1%, and 22.3% of patients with dMMR, respectively. The dMMR was more likely to occur in patients with a family history of CRC, aged < 50 years, right-sided CRC, poorly differentiated histology, no perineural invasion, and with carcinoma , stage I, or stage II tumors.
This study analyzed the molecular profiles of , , , , and MMR/MSI in CRC, identifying key influencing factors, with implications for clinical management of CRC.
、 以及错配修复（MMR）/微卫星不稳定性（MSI）是结直肠癌（CRC）临床实践指南推荐的关键生物标志物。然而，它们在中国患者中的特征及影响因素尚未得到充分描述。
分析CRC中 、 、 、 突变的临床病理特征及DNA错配修复状态。
我们纳入了中日友好医院的2271例中国CRC患者。采用免疫组织化学分析检测MMR蛋白，用定量聚合酶链反应检测 突变。使用MSI检测试剂盒确定微卫星状态。采用SPSS软件进行统计分析及逻辑回归分析。
CRC患者中 、 、 、 突变的检出率分别为44.6%、3.4%、3.7%和3.9%。 突变更易发生在中高分化患者中。 突变更易发生在右侧CRC、低分化或无神经周围浸润的患者中。所有患者中7.9%检测到错配修复缺陷（dMMR），黏液腺癌患者中16.8%检测到dMMR。dMMR患者中 、 、 、 突变的检出率分别为29.6%、1.1%、8.1%和22.3%。dMMR更易发生在有CRC家族史、年龄<50岁、右侧CRC、组织学低分化、无神经周围浸润以及患有 癌、I期或II期肿瘤的患者中。
本研究分析了CRC中 、 、 、 以及MMR/MSI的分子特征，确定了关键影响因素，对CRC的临床管理具有指导意义。
