混合谱系白血病基因在恶性血液病中的研究进展  

Research progress of mixed lineage leukemia in malignant hematologic disease

作　　者：刘警安 黄容 朱奕霖 李田田 彭婕 施小凤 LIU Jing′an;HUANG Rong;ZHU Yilin;LI Tiantian;PENG Jie;SHI Xiaofeng(Hematology Department,Affiliated Hospital of Jiangsu University,Zhenjiang,Jiangsu,212000;Hematology Department,the Second Affiliated Hospital of Nanjing Medical University,Nanjing,Jiangsu,210003)

机构地区：[1]江苏大学附属医院血液科,江苏镇江212000 [2]南京医科大学第二附属医院血液科,江苏南京210003

出　　处：《实用临床医药杂志》2023年第13期143-148,共6页Journal of Clinical Medicine in Practice

基　　金：国家自然科学基金资助项目(81700130)。

摘　　要：混合谱系白血病(MLL)基因是果蝇组蛋白赖氨酸N-甲基转移酶2(KMT2)基因的哺乳动物同源物,编码一种特异性针对组蛋白H3第4位赖氨酸(H3K4)的甲基转移酶。MLL蛋白家族共有6个成员(MLL1、MLL2、MLL3、MLL4、SETD1A和SETD1B),是哺乳动物发育过程中重要的表观遗传调控因子,在造血系统中对造血干细胞的增殖和分化发挥重要作用。MLL家族基因突变与恶性血液病的发生密切相关,且常提示预后不良。深入了解MLL的异常改变及其作用机制有助于相关肿瘤的诊断、靶向药物的研发和预后的判断,现将MLL基因在恶性血液病中的研究进展综述如下。The mixed lineage leukemia(MLL)gene,a mammalian homolog of the drosophila histone lysine N-methyltransferase 2(KMT2)gene,encodes a methyltransferase that specifically targets lysine 4 of histone H3(H3K4).There are six members of MLL protein family(MLL1,MLL2,MLL3,MLL4,SETD1A,SETD1B),which are important epigenetic regulators in mammalian development and play an important role in proliferation and differentiation of hematopoietic stem cells.MLL mutations are closely related to the occurrence of hematologic malignancies and often indicate poor prognosis.Deep understanding the abnormal changes of MLL and its mechanism of action are helpful for the diagnosis of related tumors,the development of targeted drugs and the prognosis.This article focused on the MLL gene and its research progress in hematologic malignancies.

关 键 词：混合谱系白血病基因 甲基化 恶性血液病 靶向治疗 

分 类 号：R733.7[医药卫生—肿瘤] R551[医药卫生—临床医学]