Ig/TCR基因重排检测在淋巴系统恶性增殖性疾病诊断及疗效监控中的意义  

Diagnostic and disease monitoring significance of Ig/TCR antigen receptor gene rearrangement in lymphoid proliferative disorders

作　　者：肖颖[1] 熊婕[1] 曹阳[1] 周剑峰[1] 邓金牛[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院血液内科,武汉430030

出　　处：《临床血液学杂志》2015年第2期204-208,共5页Journal of Clinical Hematology

基　　金：卫生部行业基金(No:2011HY001)

摘　　要：目的:评估Ig/TCR抗原受体基因重排技术在可疑淋巴系统增殖性疾病中的鉴别诊断意义及其在疾病监控中的作用。方法:使用BIOMED-2多重聚合酶链反应技术,检测405例患者的515份样本,分析受体基因重排结果,并与其最终诊断及疾病状态的相关性进行分析。结果:在确诊的118例淋巴细胞增殖性疾病中,共有82例标本(69.5%)检测到单克隆抗原受体基因重排,其中多发性骨髓瘤78.6%(11/14),急或慢性淋巴细胞白血病74.4%(29/39),非霍奇金淋巴瘤骨髓浸润65.7%(23/35),非霍奇金淋巴瘤病理确诊组织样本63.3%(19/30)。组织标本阳性检出率明显高于骨髓标本(50.0%∶12.5%,P<0.05)。对部分初诊时抗原受体基因重排阳性,但治疗后达完全缓解的患者进行随访发现,达到完全缓解的患者骨髓均未检测出单克隆性抗原受体基因重排。不伴骨髓浸润的非霍奇金淋巴瘤的58份骨髓标本和非淋巴系统增殖性疾病的204份样本,均未发现单克隆性抗原受体基因重排(特异性100%)。结论:抗原受体基因重排单克隆检测对淋巴系统增殖性疾病的诊断、鉴别诊断及治疗后疗效评价有重要意义。Objectives：To assess the diagnostic and disease monitoring significance of Ig/TCR antigen receptor gene rearrangement in suspicious lymphoid proliferative disease. Methods：Five hundred and fifteen samples of 408 patients were examined by the novel BIOMED-2 multiplex PCR. The results of Ig/TCR antigen acceptor gene rearrangement were analyzed together with the clinical information,final diagnosis as well as the status of disease. Resalts： In 118 samples of lymphoid proliferative disease, 82 samples （69.5 %） were the gene clonal rearrangement positive,including 78.6% （11/14） of multiple myeloma,74.4% （29/39） of acute or chronic lymphoblastic leuke mia,65.7% （23/35） of non-Hodgkin＇s lymphoma （NHL） with bone marrow infiltration,63.3% （19/30） of the pathological tissue samples from NHL. The positivity of gene clonal rearrangement was signifiantly higher in pathological tissue samples than that in bone marrow samples in NHL （50.0% vs 12.5 % ,P〈0.05）. By following up the cases which had gene clonal rearrangement at initial diagnosis, the gene clonal rearrangement disappeared in the patients who achieved complete remission. The gene clonal rearrangements were not detected in 58 samples of NHL without bone marrow infiltration and 204 samples of non-lymph proliferative disease （specificity was 100 %）. Con elasion ：The BIOMED-2 multiplex PCR strategy is a rapid, sensitive and reliable method in detection of Ig/TCR antigen acceptor gene rearrangement assisting in diagnosis,differential diagnosis and disease monitoring in lymphoid proliferative disease.

关 键 词：淋巴系统增殖性疾病 疾病诊断及监控 Ig/TCR抗原受体基因重排 

分 类 号：R733.4[医药卫生—肿瘤]