肿瘤防治研究2025，Vol.52Issue(2)：127-132,6.DOI:10.3971/j.issn.1000-8578.2025.24.0557
KMT2D基因突变及其共突变基因在弥漫性大B细胞淋巴瘤患者预后中的意义
Prognostic Significance of KMT2D Gene Mutation and Its Co-mutated Genes in Patients with Diffuse Large B-Cell Lymphoma
摘要
Abstract
Objective To explore the clinical characteristics of patients with diffuse large B-cell lymphoma(DLBCL)accompanied with KMT2D gene mutation and the impact of its co-mutated genes on prognosis.Methods Clinical data of 155 newly diagnosed DLBCL patients were obtained.The second-generation sequencing method was used to detect 475 hotspot genes,including KMT2D mutation.Patients were divided into the KMT2D mutation group and KMT2D wild-type group based on the presence or absence of KMT2D gene mutation.Clinical characteristics,differences in co-mutated genes,and survival differences between the two groups were compared.Results The frequency of KMT2D mutation was 31%,which is predominantly observed in elderly patients(P=0.07)and less in the double-expressor phenotype(P=0.07).Compared with the KMT2D wild-type group,KMT2D gene mutation was associated with higher co-mutation rates of CDKN2A(OR=2.82,P=0.01)and BCL2(OR=3.84,P=0.016),while being mutually exclusive with MYC gene mutation(OR=0.11,P=0.013).In univariate survival analysis,no statistically significant difference in overall survival(OS)was found between the KMT2D mutation group and the wild-type group(P=0.54).Further analysis of the prognostic significance of KMT2D with other gene mutations indicated that patients with KMT2DmutBTG2mut had poorer OS than those with KMT2Dwt BTG2mut(P=0.07)and KMT2Dwt BTG2wt(P=0.05).On the contrary,patients with KMT2Dmut CD79Bmut had better OS than those with KMT2Dmut CD79Bwt(P=0.09),with no prognostic impact observed for other co-mutated genes.Multivariate Cox regression analysis revealed that Ann Arbor stages Ⅲand Ⅳ(HR=2.751,95%CI:1.169-6.472,P=0.02),elevated LDH levels(HR=2.461,95%CI:1.396-4.337,P=0.002),Ki-67 index>80%(HR=1.875,95%CI:1.066-3.299,P=0.029),and KMT2DmutBTG2mut(HR=4.566,95%CI:1.348-15.471,P=0.015)were independent risk factors for OS in patients with DLBCL(P<0.05).Conclusion DLBCL patients with KMT2D mutation often have multiple gene mutations,among which patients with a co-mutated BTG2gene have poor prognosis.关键词
弥漫性大B细胞淋巴瘤/二代测序/KMT2D基因/共突变/预后Key words
Diffuse large B-cell lymphoma/Next-generation sequencing/KMT2D gene/Co-mutation/Prognosis分类
临床医学引用本文复制引用
木提拜尔·米吉提,木合拜尔·阿布都尔,李燕,漆小龙,热那古力·阿不来提,田文昕,刘沙,马卫媛,王增胜,安利,毛敏..KMT2D基因突变及其共突变基因在弥漫性大B细胞淋巴瘤患者预后中的意义[J].肿瘤防治研究,2025,52(2):127-132,6.基金项目
National Natural Science Foundation of China(No.82360040) 国家自然科学基金(82360040) （No.82360040）
