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目的探讨JAK2基因V617F点突变在骨髓增殖性肿瘤(MPN)中的发生情况及其意义。方法本组受检者共100例。MPN患者82例,其中真性红细胞增多症(PV)20例,有红细胞增多但未能诊断为PV者10例,原发性血小板增多症(ET)14例,有血小板增多但未能诊断为ET者13例,原发性骨髓纤维化(PMF)9例,慢性髓性白血病(CML)2例,其他MPN 6例,其他不明原因白细胞升高患者8例;另有急性白血病(AML)1例,骨髓增生异常综合征(MDS)10例、腔隙性梗死3例,慢性肾炎1例,大B细胞性淋巴瘤1例,异体胎肝移植患者1例,正常体检者1例。提取100例受检者外周血液及骨髓样本中有核细胞DNA,采用直接测序法进行JAK2第12、14外显子突变热点的检测。结果 100例样本中,有52例检测了第12、14两个外显子,48例仅检测第14外显子。未发现第12外显子突变。V617F及其他突变总检出率为38%(38/100)。PV、ET、PMF、CML、其他MPN、其他不明原因白细胞升高患者中均检测到不同比例的JAK2基因V617F点突变;而18例非MPN患者样本中均未发现V617F点突变,两组相比,P<0.01。结论 JAK2基因突变在MPN的发生率高于其他血液疾病,可作为诊断MPN的一项重要参考指标。
Objective To investigate the occurrence and significance of JAK2 V617F point mutation in myeloproliferative neoplasm (MPN). Methods A total of 100 subjects in this group. 82 cases of MPN patients, including polycythemia vera (PV) in 20 cases, erythrocyte increased but failed to diagnose PV in 10 cases, 14 cases of essential thrombocythemia (ET), thrombocytosis but failed to diagnose ET , 13 cases of primary myelofibrosis (PMF), 2 cases of chronic myelogenous leukemia (CML), 6 cases of other MPN and 8 cases of other patients with unexplained leukocytosis. Another case of acute leukemia (AML) , 10 cases of myelodysplastic syndrome (MDS), 3 cases of lacunar infarction, 1 case of chronic nephritis, 1 case of large B cell lymphoma, 1 case of allogeneic fetal liver transplantation and 1 case of normal physical examination. The DNA of nucleated cells in peripheral blood and bone marrow samples from 100 subjects was extracted and the hot spot of exon 12 and 14 of JAK2 was detected by direct sequencing. Results Of the 100 samples, 52 cases detected the first 12,14 exons and the 48 cases detected only the 14th exon. No exon 12 mutation was found. The overall detection rate of V617F and other mutations was 38% (38/100). PV, ET, PMF, CML, other MPN, and other patients with unexplained leukocytosis were detected in different proportions of JAK2 gene V617F point mutation; and 18 cases of non-MPN patients were found no V617F point mutation in both groups , P <0.01. Conclusion The prevalence of JAK2 mutations in MPN is higher than other blood diseases, which may be an important reference for diagnosis of MPN.