BCR-ABL阴性骨髓增殖性肿瘤JAK2 V617F基因突变状态及负荷的临床意义

目的探讨JAK2 V617F基因突变状态及负荷对BCR-ABL阴性骨髓增殖性肿瘤(MPN)的影响。方法回顾性分析2015年9月至2020年1月河北省沧州市中心医院199例MPN患者的临床资料。分析JAK2 V617F突变负荷与MPN患者临床病理特征及预后评分的关系。结果199例BCR-ABL阴性MPN患者中JAK2 V617F突变阳性138例(69.4%);其中,72例真性红细胞增多症(PV)患者中突变阳性64例(88.9%),101例原发性血小板增多症(ET)患者中突变阳性54例(53.5%),25例骨髓纤维化(MF)患者中突变阳性20例(80.0%),1例嗜酸粒细胞增多症(HES)患者突变阳性。JAK2 V617F突变高负荷者占55.1%(76/138)。突变负荷最高的类型为PV,MF次之,ET最低,3组突变负荷分别为(73.9±18.3)%、(59.9±25.2)%、(25.0±16.5)%。JAK2 V617F突变负荷与PV、ET、MF患者的白细胞计数均呈正相关(r值分别为0.626、0.675、0.796,均P<0.01)。JAK2 V617F突变负荷与PV、ET患者的预后评分均呈正相关(r值分别为0.296、0.404,均P<0.05)。结论BCR-ABL阴性MPN患者JAK2 V617F突变负荷与临床病理因素相关,JAK2 V617F突变高负荷患者预后不良。

Clinical significances of JAK2 V617F gene mutation status and burden in BCR-ABL-negative myeloproliferative neoplasms

Objective:To investigate the effect of JAK2 V617F gene mutation status and burden on BCR-ABL-negative myeloproliferative neoplasms (MPN).Methods:Clinical data of 199 patients with MPN in Cangzhou Central Hospital in Hebei Province from September 2015 to January 2020 were retrospectively analyzed, and the correlations of JAK2 V617F gene mutation burden with clinicopathological features and prognostic score of MPN patients were analyzed.Results:Of the 199 BCR-ABL-negative MPN patients, 138 patients (69.4%) were positive for JAK2 V617F mutation; of these patients, 64 (88.9%) of 72 patients with polycythemia vera (PV) were mutation-positive, 54 (53.5%) of 101 patients with essential thrombocytosis (ET) were positive, 20 (80.0%) of 25 patients with myelofibrosis (MF) were mutation-positive, and 1 patient with hypereosinophilic syndrome (HES) was mutation-positive. About 55.1% (76/138) of patients had a high JAK2 V617F mutation burden. The mutation burden in PV group was the highest, MF was the second, and ET was the lowest; the mutation burdens in these three groups were (73.9±18.3)%, (59.9±25.2)% and (25.0±16.5)%, respectively. Mutation burden was positively correlated with the white blood cell counts of patients with PV, ET and MF ( r values were 0.626, 0.675 and 0.796, all P < 0.01). JAK2 V617F mutation burden was positively correlated with the prognostic scores of patients with PV and ET ( r values were 0.296 and 0.404, both P < 0.05). Conclusion:The JAK2 V617F mutation burden of BCR-ABL-negative MPN patients is related to clinicopathological factors, and the prognosis of patients with high JAK2 V617F mutation burden is poor.