JAK2、CALR、MPL共表达原发性血小板增多症1例并文献复习  

A case of JAK2,CALR,MPL co-expression ET and review of the literature

作　　者：张海亚 王彦丽 李丽 接贵涛 ZHANG Haiya;WANG Yanli;LI Li;JIE Guitao(Clinical Medical College,Weifang Medical University,Weifang,Shandong 261000,China;Department of Hematology,Linyi Central Hospital,Linyi,Shandong 276400,China)

机构地区：[1]潍坊医学院临床医学院,山东潍坊261000 [2]临沂市中心医院血液科,山东临沂276400

出　　处：《安徽医药》2025年第1期129-131,共3页Anhui Medical and Pharmaceutical Journal

基　　金：山东省医药卫生科技发展计划项目(202103041044)。

摘　　要：目的探讨1例CALR、JAK2及MPL 3个驱动基因突变阳性的原发性血小板增多症(ET)病人的临床及实验室特征,以提示临床医生在本病的诊断过程中对相关驱动基因突变进行更为精确的检测。方法2022年2月17日收集临沂市中心医院原发性血小板增多症病人骨髓液送检济南金域医学检验中心,采用二代测序技术检测本例ET病人的JAK2、CALR和MPL基因突变,并结合文献分析JAK2、CALR、MPL 3个驱动基因突变均表达的临床及实验室特征。结果病人检测到JAK2、CALR及MPL 3个驱动基因突变阳性,表现为血小板增高、红细胞计数和血红蛋白正常。结论为了进一步提高对ET乃至骨髓增殖性肿瘤的认识,需要在诊断过程中尽可能使用更为精确的二代测序对其基因突变进行检测。Objective To investigate the clinical and laboratory features of a patient with CALR,JAK2 and MPL driver mutations positive Essential thrombocytosis ET,it is suggested that clinicians should detect the mutations of related driver genes more accurately during the diagnosis of the disease..Methods On February 17,2022,bone marrow fluid from patients with primary thrombocytosis at Linyi Central Hospital was collected and sent for testing at Ji´nan Jinyu Medical Testing Center.Next-generation sequencing was used to detect JAK2,CALR and MPL gene mutations in this patient with ET and to analyze the clinical and laboratory characteristics of patients with all three driver gene mutations of JAK2,CALR and MPL expressed in conjunction with the literature.Results Patients were detected positive for three driver mutations in JAK2,CALR and MPL and showed increased platelets and normal red blood cell count and hemoglobin.Conclusion In order to improve the understanding of ET or even myeloproliferative neoplasms(MPN),more accurate next-generation sequencing for their gene mutations is needed in the diagnostic process as much as possible.

关 键 词：血小板增多 原发性 基因突变 JAK2 CALR MPL 骨髓增殖性肿瘤 

分 类 号：R558.3[医药卫生—血液循环系统疾病]