Detection And Clinical Significance Of JAK2/V617F,CALR And MPL W515 Gene Mutations In Patients With BCR/ABL Negative Myeloproliferative Neoplasms

ObjectiveMyeloproliferative neoplasms(MPN)are malignant tumors characterized by excessive proliferation of bone marrow hematopoietic stem cells.They can be divided into high,medium and low-risk groups according to the age of MPN patients,routine blood data,and the presence or absence of thrombotic events,and the presence of genetic mutations has a higher risk stratification.This study was to investigate the clinical features of JAK2/V617F,CALR and MPL W515 gene mutations in BCR/ABL-negative MPN patients and their effects on MPN risk stratification.MethodsA retrospective analysis of the clinical data of 179 patients with BCR/ABL-negative MPN in the Department of Hematology,Zhengzhou University People's Hospital from 2015-01-01 to 2018-02-28 was conducted.The laboratory data and gene mutations were statistically analyzed.PCR amplification technique was used to detect JAK2/V617F,CALR and MPL W515 mutations in patients' bone marrow.The Mann-Whitney U test was used to compare the two groups of non-normal distribution data,and the Kruskal-Wallis H test was used to compare the three groups of data.Logistic ordered regression analysis was used to analyze the risk factors associated with high and low risk types.ResultsAmong 179 patients with MPN,78 males and 101 females,aged 12-81 years,mean age(56.04±16.44)years old,median age 59 years;JAK2/V617F,CALR and MPL W515 mutations in 41 true cases There were statistically significant differences in the composition of polycythemia vera(PV),106 patients with essential thrombocytosis(ET),and 32 patients with primary myelofibrosis(PMF)(P=0.030).JAK2/V617F mutation positive in PV patients had higher WBC(Z=-4.269,P<0.001),PLT(Z=-4.527,P<0.001),and Fbg(Z=-3.695,P<0.001)levels than JAK2/V617F mutations.For the negative,the difference was statistically significant.The WBC(H=19.457,P<0.001)and HGB(H=14.520,P<0.001)levels of JAK2/V617F mutation-positive patients in ET patients were higher than those with positive CALR mutations and gene mutations.The difference was statistically significant.The WBC(H=14.994,P=0.002),HGB(H=9.691,P=0.021),PLT(H=7.877,P=0.049)and Fbg(H=8.825,P=0.012)levels of JAK2/V617F mutation-positive patients with PMF,the level is higher than patients with negative gene mutations,the difference is statistically significant.Multivariate logistic regression analysis showed that JAK2/V617F gene mutation(95%CI=0.128?1.869,P=0.025)was associated with risk stratification,and JAK2/V617F mutation-positive patients had higher risk stratification.ConclusionThe frequency and distribution of mutations in different MPN subtypes are different.JAK2/V617F mutations can occur in patients with PV,ET and PMF,and the mutation rate of JAK2/V617F in PV patients is higher than ET and PMF.CALR mutations can occur in patients with ET and PMF.The mutation in MPL W515 was only present in patients with PMF,and JAK2/V617F gene mutation and disease risk stratification is associated,and the risk stratification of JAK2/V617F mutation positive is higher,and the sample size needs to be expanded for verification.