ETV6-ABL融合基因在骨髓增殖性肿瘤造血细胞群中分布的研究  

Distribution of ETV6-ABL Fusion Gene in Hematopoietic Cell Populations of Myeloproliferative Neoplasm

作　　者：陈远 刘倩[1] 李艳[2] 魏辉 饶青 王敏[1] 王建祥[1,2] CHEN Yuan;LIU Qian;LI Yan;WEI Hui;RAO Qing;WANG Min;WANG Jian-Xiang(State Key Laboratory of Experimental Hematology,Institute of Hematology and Blood Diseases Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Tianjin 300020,China;National Clinical Research Center for Blood Diseases,Institute of Hematology and Blood Diseases Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Tianjin 300020,China)

机构地区：[1]实验血液学国家重点实验室,北京协和医学院,中国医学科学院血液病医院(中国医学科学院血液学研究所),天津300020 [2]国家血液系统疾病临床研究中心,北京协和医学院,中国医学科学院血液病医院(中国医学科学院血液学研究所),天津300020

出　　处：《中国实验血液学杂志》2021年第4期1242-1246,共5页Journal of Experimental Hematology

基　　金：国家自然科学基金(81670159);中国医学科学院医学与健康科技创新工程项目(CIFMS 2016-I2M-3-004);天津市自然科学基金京津冀专项(18JCZDJC45000)。

摘　　要：目的:探讨ETV6-ABL融合基因在不同细胞群体中的表达情况,以及酪氨酸激酶抑制剂对该融合基因的治疗效果。方法:报道了1例42岁的患者,表现为粒细胞增多和慢性粒细胞白血病样骨髓象。使用real-time PCR方法检测融合基因,并测序确认。通过流式分选和real-time PCR方法,对分选后的外周血细胞各个细胞群中的ETV6-ABL mRNA表达水平进行检测。结果:在骨髓细胞中检测到ETV6-ABL融合基因,测序结果显示为ETV6-ABL A型。与总体细胞相比,分叶核细胞中的ETV6-ABL转录水平接近总体的3.6倍,明显高于T细胞、B细胞、单核细胞群。给予伊马替尼每天400 mg治疗3个月后,该患者的血常规恢复到正常水平。伊马替尼治疗6个月后,ETV6-ABL/ABL的比例从最开始的174.1%下降到1.9%。结论:ETV6-ABL融合基因阳性的骨髓增殖性肿瘤临床可以表现为慢性粒细胞样,对酪氨酸激酶抑制剂治疗敏感。ETV6-ABL融合基因主要表达在分叶核细胞群。aAbstract Objective: To explore the expression level of ETV6-ABL fusion gene in different cell populations in patients with myeloproliferative neoplasm( MPN) and therapeutic effect of tyrosine kinase inhibitor( TKI). Methods:A 42-year-old man who presented with fever,marked leukocytosis and chronic myelogenous leukemia( CML) like MPN was reported. ETV6-ABL fusion gene was detected by real-time PCR and confirmed by direct sequencing. ETV6-ABL mRNA expression in each cell population sorted from peripheral blood by flow cytometry was detected by real-time PCR.Results: ETV6-ABL fusion gene was found out in bone marrow cells and confirmed as type A by direct sequencing.ETV6-ABL fusion gene transcript level in polymorphonuclear cells was nearly 3. 6-fold relative to that in total cells,which was significantly higher than that in T cell,B cell and monocyte subsets. The complete blood count( CBC)returned to normal level after treatment with imatinib( 400 mg) daily for three months. After TKI treatment for 6 months,the ratio of ETV6-ABL/ABL decreased from 174. 1% to 1. 9%. Conclusion: ETV6-ABL fusion gene positive MPN may have a CML clinical presentation and is sensitive to TKI. ETV6-ABL fusion gene is specifically expressed in polymorphonuclear cells.

关 键 词：骨髓增殖性肿瘤 ETV6-ABL融合基因 酪氨酸激酶抑制剂 

分 类 号：R733.3[医药卫生—肿瘤]