Analysis of gene mutation and risk factors of thrombosis in patients with bcr-abl negative myeloproliferative neoplasms

Abstract

Objective To explore the relationship between gene mutation of JAK2 V617F, JAK2(exon12), CALR, MPL and clinical features of patients with bcr-abl negative myeloproliferative neoplasms (MPN), and to analyze the risk factors of thrombosis. Methods Clinical features and laboratory tests of 115 patients with bcr-abl negative MPN were analyzed retrospectively. 34 patients with thrombosis were treated as the observation group, and 81 patients without thrombosis were treated as the control group. Results Among 71 primary thrombocythemia cases, the white blood cell count (WBC) and hemoglobin level of JAK2 V617F positive group and CALR positive group was higher than that of 4 gene mutations in negative group (F= 5.835, P= 0.005; F= 3.405, P= 0.039). The incidence of splenomegaly in JAK2 V617F positive group and CALR positive group was higher than that of 4 gene mutations in negative group (χ 2= 16.902, P= 0.000 2; χ 2= 12.658, P= 0.001). The patients'proportion of JAK2 V617F positive, high hemoglobin level (male ≥160 g/L, female ≥150 g/L), hypertension and over 60 years old in the observation group was higher than that in the control group (χ 2= 5.585, P= 0.025; χ2= 4.909, P= 0.043; χ2= 8.891, P= 0.004; χ2= 15.933, P= 0.023). Conclusion The detection of JAK2 V617F, JAK2 (exon12), CALR and MPL gene mutations is helpful to the diagnosis of bcr-abl negative MPN; JAK2 V617F positive, high hemoglobin level, hypertension, and elderly age are risk factors of thrombosis. Key words: Myeloproliferative disorders; Genes; Mutation; Thromboembolism