CDKN2A拷贝数缺失对弥漫性大B细胞淋巴瘤患者的预后价值  

Prognostic Value of CDKN2A Copy Number Deletion in Patients with Diffuse Large B-Cell Lymphoma

作　　者：马卫媛 邵乐天 田文昕 刘沙 李燕[3] MA Wei-Yuan;SHAO Le-Tian;TIAN Wen-Xin;LIU Sha;LI Yan(Shihezi University School of Medicine,Shihezi 832000,Xinjiang Uygur Autonomous Region,China;Xinjiang Medical University;Department of Hematology,People′s Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830000,Xinjiang Uygur Autonomous Region,China)

机构地区：[1]石河子大学医学院,新疆石河子832000 [2]新疆医科大学 [3]新疆维吾尔自治区人民医院血液病科,新疆乌鲁木齐830000

出　　处：《中国实验血液学杂志》2025年第2期379-386,共8页Journal of Experimental Hematology

基　　金：国家自然科学基金地区科学基金项目(82360040)。

摘　　要：目的:探讨CDKN2A拷贝数缺失与弥漫性大B细胞淋巴瘤(DLBCL)患者临床特征的关系及其预后价值。方法:纳入2009年3月-2022年3月新疆维吾尔自治区人民医院血液病科临床资料完整的新诊断DLBCL患者155例,获取福尔马林固定石蜡包埋肿瘤组织,并从中提取DNA,应用下一代测序技术靶向测序包括475个淋巴瘤相关基因,分析CDKN2A拷贝数缺失与DLBCL患者临床特征、高频突变基因及总生存期(OS)的关系。结果:155例DLBCL患者中,有12.9%(20/155)的患者存在CDKN2A拷贝数缺失。按照CDKN2A是否存在拷贝数缺失进行分组,与未发生CDKN2A拷贝数缺失组相比,CDKN2A拷贝数缺失组IPI评分≥3分患者比例更高(80%对51.5%,P=0.015),更可能发生大包块(20%对5.2%,P=0.037)。生存分析结果显示,CDKN2A拷贝数缺失组患者5年OS显著低于非缺失组(51.3%对69.2%,P=0.047)。多因素Cox分析显示IPI评分≥3分(P=0.007)、TP53突变(P=0.009)及CDKN2A拷贝数缺失(P=0.04)是影响DLBCL患者OS的独立危险因素。结论:CDKN2A拷贝数缺失是影响DLBCL患者OS的独立危险因素,精准识别CDKN2A拷贝数缺失可以预测DLBCL患者的预后。Objective:To investigate the relationship between CDKN2A copy number deletion and clinical features of patients with diffuse large B-cell lymphoma(DLBCL)and its prognostic value.Methods:155 newly diagnosed DLBCL patients with complete clinical data in the Department of Hematology of People′s Hospital of Xinjiang Uygur Autonomous Region from March 2009 to March 2022 were included,formalin-fixed paraffin-embedded tumor tissues were obtained and DNA was extracted from them,and next-generation sequencing technology was applied to target sequencing including 475 lymphoma-related genes,the relationship between CDKN2A copy number deletion and clinical features,high-frequency mutated genes and overall survival(OS)of DLBCL patients were analyzed.Results:CDKN2A copy number deletion was present in 12.9%(20/155)of 155 DLBCL patients,grouped according to the presence or absence of copy number deletion of CDKN2A,and a higher proportion of patients with IPI≥3 were found in the CDKN2A copy number deletion group compared to the group with no CDKN2A copy number deletion(80%vs 51.5%,P=0.015)and were more likely to have bulky disease(20%vs 5.2%,P=0.037).Survival analysis showed that the 5-year OS of patients in the CDKN2A copy number deletion group was significantly lower than that of the non-deletion group(51.3%vs 69.2%,P=0.047).Multivariate Cox analysis showed that IPI score≥3(P=0.007),TP53 mutation(P=0.009),and CDKN2A copy number deletion(P=0.04)were independent risk factors affecting the OS of DLBCL patients.Conclusion:CDKN2A copy number deletion is an independent risk factor for OS in DLBCL,and accurate identification of CDKN2A copy number deletion can predict the prognosis of DLBCL patients.

关 键 词：CDKN2A拷贝数缺失 弥漫性大B细胞淋巴瘤 TP53突变 预后 

分 类 号：R733.1[医药卫生—肿瘤]