| 张海亚.JAK2、CALR、MPL共表达原发性血小板增多症一例并文献复习[J].安徽医药,待发表. |
| JAK2、CALR、MPL共表达原发性血小板增多症一例并文献复习 |
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| 投稿时间：2023-05-05 录用日期：2023-05-24 |
| DOI： |
| 中文关键词: 原发性血小板增多症 JAK2 CALR MPL MPN |
| 英文关键词: |
| 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三个驱动基因突变阳性的原发性血小板增多症（ET）患者的临床及实验室特征，以提高对本病的认识。方法：采用二代测序技术检测本例ET患者的JAK2、CALR和MPL基因突变，并结合文献分析JAK2、CALR、MPL三个驱动基因突变均表达的临床及实验室特征。结果：患者检测到JAK2、CALR及MPL三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：要想通过监测驱动突变以建立一个准确的ET甚至MPN患者预后模型，需要在诊断过程中尽可能使用更为精确的下一代测序（next-generation sequencing，NGS）对其基因突变进行检测。 |
| 英文摘要: |
| ABSTRACT Objective To investigate the clinical and laboratory characteristics of a patient with essential thrombocythemia (ET) positive for three driver gene mutations in CALR, JAK2 and MPL to improve the understanding of this disease. Methods 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 To monitor driver mutations to establish an accurate prognostic model for patients with ET or even MPN, more accurate next-generation sequencing (NGS) for their gene mutations is needed in the diagnostic process as much as possible. |
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