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目的研究骨髓增殖性疾病(MPD)患者 Janus 激酶2(JAK2)V617F 点突变,探讨其临床应用意义。方法应用等位基因特异性聚合酶链反应(AS-PCR)结合测序检测20例慢性粒细胞白血病(CML)、23例真性红细胞增多症(PV)、40例原发性血小板增多症(ET)、8例慢性特发性骨髓纤维化(IMF)、3例高嗜酸粒细胞综合征(HES)患者外周血单个核细胞基因组 DNA 的 JAK2 V617F 点突变。结果 74例 BCR/ABL 阴性 MPD 患者中共发现38例存在 JAK2 V617F 突变(51.4%),分别为16例 PV,18例 ET,3例 IMF,1例 HES。对所有阳性样本和10例阴性样本进行测序鉴定,二者结果均一致。JAK2 V617F 突变阳性 ET 患者的外周血血红蛋白、红细胞压积和中性粒细胞比例显著高于阴性组。结论 JAK2 V617F 突变为 BCR/ABL 阴性 MPD 患者主要的分子遗传学异常,对其诊断、分类及探索有效的靶向治疗有重要影响。
Objective To study the point mutation of V617F in Janus kinase 2 (JAK2) in patients with myeloproliferative disorder (MPD) and to explore its clinical significance. Methods Twenty cases of chronic myeloid leukemia (CML), 23 cases of polycythemia vera (PV) and 40 cases of essential thrombocythemia (ET) were detected by allele-specific polymerase chain reaction (AS- , JAK2 V617F point mutation of genomic DNA of peripheral blood mononuclear cells in 8 patients with chronic idiopathic myelofibrosis (IMF) and 3 patients with hypereosinophilic syndrome (HES). Results Thirty-eight patients with JAK2 V617F mutation (51.4%) were found in 74 patients with BCR / ABL negative MPD, including 16 PVs, 18 ETs, 3 IMFs and 1 HES. All positive samples and 10 negative samples were sequenced and identified, the results were consistent. The proportion of peripheral blood hemoglobin, hematocrit and neutrophil in JAK2 V617F mutation-positive ET patients was significantly higher than that in negative patients. Conclusions The mutation of JAK2 V617F is the major molecular genetic abnormality in patients with BCR / ABL negative MPD, which has an important influence on its diagnosis, classification and exploration of effective targeted therapy.