Clinical significances of JAK2 V617F gene mutation status and burden in BCR-ABL-negative myeloproliferative neoplasms / 白血病·淋巴瘤

ABSTRACT

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.