Polycythemia vera (PV) is the most common myeloproliferative neoplasms (MPNs) characterized by the overproduction of morphologically and functionally normal blood cells. Whereas, the clinical usefulness of JAK2 V617F allele burden is still under investigation.

We retrospectively reviewed the clinical parameters and haematologic information of 276 patients with PV, including 247 JAK2 mutated and 29 JAK2 unmutated patients, and 38 patients with idiopathic erythrocytosis in the First Affiliated Hospital of Zhejiang University School of Medicine and the Fourth Affiliated Hospital of Zhejiang University School of Medicine(ChiCTR2200061208). JAK2 V617F allele mutational burden was performed in 183 PV patients by RQ-PCR. The expression of WT1 gene was performed in 28 PV patients .JAK2 mutated PV exhibited higher leukocyte counts[12.4(5.0-36.8)×109/L vs 7.1(4.7-17.1)×109/L, P<0.001], neutrophil counts[11.3(3.9-26.6)×109/L vs 4.4(2.2-6.3)×109/L, P<0.001], monocyte counts[0.7(0.3-2.2)×109/L vs 0.6(0.3-0.9)×109/L, P=0.004], eosinophil counts[0.26(0.02-0.96)×109/L vs 0.12(0.04-0.28)×109/L, P<0.001], basophil counts[0.13(0.01-0.62)×109/L vs 0.05(0.02-0.06)×109/L, P<0.001], red blood cell distribution width values[15.2(12.3-23.1)fL vs 12.4(11.7-15.5)fL, P<0.001], platelet counts[616(153-1436)×109/L vs 230(158-375)×109/L, P<0.001], lactate dehydrogenase values[320(144-547) U/L vs 196(117-261) U/L, P<0.001], onset ages[61(26-89) years vs 52(17-72) years, P=0.003], a higher frequency of splenomegaly(41.3% vs 6.9%, P<0.001), lower body mass index[22.91(15.57-32.58) kg/m2 vs 24.83(19.62-34.90) kg/m2, P=0.019] , lymphocyte counts[1.6(0.8-8.7)×109/L vs 2.2(1.3-3.9)×109/L, P=0.015], mean corpuscular hemoglobin values[30.0(22.2-38.6)pg vs 31.5(28.9-36.8)pg, P=0.008], mean corpuscular hemoglobin concentration values[327(294-362)g/L vs 345(324-361)g/L, P<0.001] and serum cholesterol level[3.81(1.84-6.44) mmol/L vs 5.04(3.67-6.41) mmol/L, P=0.001] than JAK2 unmutated patients. PV patients exhibited higher leukocyte counts[13.8(5.0-36.8)×109/L vs 7.5(3.8-11.3)×109/L, P<0.001], neutrophil counts[10.2(2.2-26.6)×109/L vs 4.8(2.1-7.5)×109/L, P<0.001], monocyte counts[0.7(0.3-2.2)×109/L vs 0.5(0.1-1.0)×109/L, P=0.001], eosinophil counts[0.23(0.02-0.96)×109/L vs 0.12(0.03-0.58)×109/L, P=0.001], basophil counts[0.09(0.01-0.62)×109/L vs 0.04(0-0.12)×109/L, P<0.001], red blood cell distribution width values[14.3(11.7-23.1)fL vs 12.5(11.7-15.4)fL, P<0.001], platelet counts[493(153-1436)×109/L vs 233(137-428)×109/L, P<0.001], lactate dehydrogenase values[294(117-547) U/L vs 203(134-301) U/L, P<0.001], onset ages[60(17-89) years vs 45 (20-83) years, P<0.001], a higher frequency of splenomegaly(37.7% vs 7.9%, P<0.001), lower body mass index[23.11(15.57-34.90) kg/m2 vs 25.97(18.40-39.18) kg/m2, P=0.001], mean corpuscular hemoglobin concentration values[332(294-362)g/L vs 342(314-377)g/L, P<0.001] and serum cholesterol level[4.12(1.84-6.44) mmol/L vs 5.00(2.78-7.83) mmol/L, P=0.001] than idiopathic erythrocytosis patients. Among the 276 PV patients, 183 were measured with JAK2 V617F allele burden. The analysis of spearman rank correlation showed that JAK2 V617F allele burdens were positively correlated with white blood cell counts(r=0.5516, P<0.0001), neutrophil count(r=0.8358, P<0.0001), lactate dehydrogenase levels(r=0.6915, P<0.0001). Moreover, the expression level of WT1 gene was positively correlated with JAK2 V617F allele burden(r=0.6653, P=0.0001), white blood cell counts(r=0.4276, P=0.0184), neutrophil count(r=0.4238, P=0.0220), platelet counts(r=0.3914, P=0.0324) and lactate dehydrogenase levels(r=0.6500, P=0.0001).

In conclusion, the JAK2 V617F allele burden and the expression level of WT1 gene were correlated with hematologic parameters and clinical outcomes of PV patients. These two tests are recommended for all patients with PV, irrespective of hemoglobin level.

The research was supported by the Key R&D Program of Zhejiang, No. 2022C03137; Public Technology Application Research Program of Zhejiang, China, No. LGF21H080003; the Key Project of Jinhua Science and Technology Plan, China, No. 2020-3-011;the 2019-2022 Key Medical Discipline (Hematology) Fund of Jinhua, China.

Correspondence: Jian Huang househuang@zju.edu.cn.

Figure 1
Figure 1
View largeDownload PPT

No relevant conflicts of interest to declare.

Author notes

*

Asterisk with author names denotes non-ASH members.

© 2022 by The American Society of Hematology
2022
Sign in via your Institution