| 张海亚,王彦丽,李丽,等.JAK2、CALR、MPL共表达原发性血小板增多症 1例并文献复习[J].安徽医药,2025,29(1):129-131. |
| 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 |
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| DOI：10.3969/j.issn.1009-6469.2025.01.026 |
| 中文关键词: 血小板增多，原发性 基因突变 JAK2 CALR MPL 骨髓增殖性肿瘤 |
| 英文关键词: Thrombocythemia,essential Gene mutation JAK2 CALR MPL Myeloproliferative neoplasms |
| 基金项目:山东省医药卫生科技发展计划项目( 202103041044) |
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| 中文摘要: |
| 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。 |
| 英文摘要: |
| Objective To investigate the clinical and laboratory features of a patient with CALR, JAK2 and MPL driver mutationspositive Essential thrombocytosis ET, it is suggested that clinicians should detect the mutations of related driver genes more accuratelyduring the diagnosis of the disease..Methods On February 17, 2022, bone marrow fluid from patients with primary thrombocytosis atLinyi Central Hospital was collected and sent for testing at Ji'nan Jinyu Medical Testing Center. Next-generation sequencing was usedto detect JAK2, CALR and MPL gene mutations in this patient with ET and to analyze the clinical and laboratory characteristics of pa-tients 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 cellcount 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. |
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