成人急性淋巴细胞白血病IL-7R基因突变及临床特征分析  

Mutation and Clinical Feature of IL-7R in Adult Patients with Acute Lymphoblastic Leukemia

作　　者：付国美 陈丹丹[1] 吴川 王萌[1] 潘正喜 彭雪扬 孙慧[1] 孙玲[1] 刘延方[1] 姜中兴[1] FU Guo-Mei;CHEN Dan-Dan;WU Chuan;WANG Meng;PAN Zheng-Xi;PENG Xue-Yang;SUN Hui;SUN Ling;LIU Yan-Fang;JIANG Zhong-Xing(Department of Hematology,The First Affiliated Hospital of Zhengzhou University,Zhenzhou 450052,Henan Province,China)

机构地区：[1]郑州大学第一附属医院血液科

出　　处：《中国实验血液学杂志》2019年第5期1416-1423,共8页Journal of Experimental Hematology

基　　金：国家自然科学基金(U8504106)

摘　　要：目的:研究成人急性淋巴细胞白血病(ALL)患者IL-7R基因突变及临床特征。方法:选择2016年5月至2018年12月确诊的初治成人ALL患者164例,采用靶向特异的第二代测序技术检测包括IL-7R基因突变在内的16种Ph-like ALL突变,分析IL-7R基因突变ALL患者的临床特征及IL-7R基因的突变率,发生位点及突变类型。结果:164例成人ALL患者中,10例患者发生IL-7R突变,突变总频次为13次,突变率6.1%,10例中男性5例(50%),女性5例(50%);B-ALL 6例(占60%),T-ALL 4例(占40%),均位于exon6。置换突变6例,缺失突变3例,插入突变4例。1例患者为IL-7R三突变,1例患者为IL-7R双突变。其中6种突变为新发现的类型,包括:c.720724del、c.723726del、c.721722ins AGTG、c.727728ins TAACGGCCCCCTGCT、c.727728ins ATGCAGG GAGCGAA、c.728729ins AAGTGTCA基因突变位点,经治疗的9例IL-7R突变的ALL患者中有5例为复发难治型。结论:本研究发现了6种IL-7R的新突变基因位点并发现伴IL-7R基因突变的ALL临床治疗效果较差,需扩大样本量进一步研究该基因突变对预后的影响。Objective:To investigate the IL-7R gene mutation and clinical features of adult patients with acute lymphoblastic leukemia(ALL).Methods:One hundred sixty-four cases of newly treated adults with ALL from May 2016 to December 2018 were selected.Targeted and specific next-generation sequencing technology was used to detected a total of 16 types of Ph-like ALL mutations,which include IL-7R mutation,and the cilinical features,rate,types and sites of IL-7R were analyzed.Results:IL-7R mutation was determined in 10 cases of 164 adult patients with ALL and the total mutation frequency was 13 times(6.1%).Out of 10 cases 5 cases were male(50%),5 cases were female(50%).6 cases of B-ALL(60%)and 4 cases of T-ALL(40%).The mutation site of all cases was located at exon 6,among which 6 cases had replacement mutations,3 cases had deletion mutations and 4 cases had insertion mutations.In addition,1 triple and 1 double mutation of IL-7R were found.Besides,six mutation sites were newly identified,including:c.720724 del,c.723726 del,c.721722 insAGTG,c.727728 insTAACGGCCCCCTGCT,c.727728 insATGCAGGGAGCGAA and c.728729 insAAGTGTCA.Conclusion:Six novel mutation sites and a poor manifestation of IL-7R have been explored in this research.Thus more samples are required to study the effects of IL-7R mutation on ALL treatment.

关 键 词：IL-7R基因突变 急性淋巴细胞白血病 Ph样急性淋巴细胞白血病 

分 类 号：R733.71[医药卫生—肿瘤]