Clinical Significance Of JAK2、CALR、MPL Gene Mutations In 74 Classific Myeloproliferative Neoplasms Patients

Background: Myeloproliferative Neoplasms(MPN)is a group of malignant myeloproliferative diseases stemming from pluripotent hematopoietic stem cells.It mainly expresses hyperplasia of one or more myeloid cells,which can lead to thrombosis,hemorrhage and splenomegaly.Polycythaemia vera(PV),primary thrombocytosis(PT)and primary myelofibrosis(PMF)are BCR-ABL negative myeloproliferative neoplasms,which are also called classic myeloproliferative neoplasms.JAK2,CALR and MPL genes are common mutations in classical MPN.The pathogenesis of JAK2,CALR and MPL gene mutations is not yet clear at present.The exact effect of these three genes on the clinical features of MPN has not been confirmed yet.Objective: To retrospectively analyze the clinical data of patients with classic MPN admitted from January 2016 to December 2017 in our hospital,and to analyze the differences in the effects of different gene mutations and gene mutation negative on laboratory results.Methods: The clinical data of patients with classic MPN diagnosed in our hospital from 2016 to 2017 were collected and analyzed by SPSS software.Results:(1)Among the 74 patients with MPN,49(66.2%)were JAK2V617 F gene mutation,7(9.4%)CALR gene mutation,3(4.1%)MPL gene mutation,and 14(18.9%)were negative.(2)The detection rate of JAK2V617 F gene mutation in PV patients was 91.3%.In ET patients,the detection rate of JAK2V617 F mutation was 47.6%,the detection rate of CALR exon 9 mutations was 11.9%,and the detection rate of MPL exon 10 mutation was 28.6%;The detection rate of JAK2V617 F mutation was 87.5% in PMF patients,and the detection rate of CALR exon 9 mutation was 12.5%.No MPL mutation was detected in patients with PMF.(3)In PV group,JAK2V617 F mutation positive and three gene mutations were negative in all laboratory indicators showed no significant difference(P> 0.05).In ET group,compared with JAK2V617 F mutation positive group,patients with CALR exon 9 mutation had lower peripheral WBC,higher peripheral platelet count,lower PT and higher TT(t = 2.546,-2.084,2.287,-3.115,P values were 0.026,0.01,0.032,0.005),hemoglobin concentration and other coagulation parameters were not statistically significant(P>0.05).Compared with JAK2V617 F gene mutation patients,the exon 10 mutation of MPL had longer APTT(t = 2.658,P = 0.015),no significant difference in leucocyte,platelet and hemoglobin(P> 0.05).Compared with the three gene mutation negative patients,the JAK2V617 F gene mutation patients had higher peripheral WBC,higher hemoglobin concentration(t=1.716,P=0.045;t=5.215,P﹤0.001),longer APTT(t = 2.197,P <0.001),lower FIB(t =-2.420,P = 0.030).There was no significant difference in platelet count,PT,TT(P> 0.05).TT was significantly longer in patients with positive mutations in CALR exon 9(t = 3.963,P = 0.007;t = 3.794,P = 0.020)compared with those with MPL exon 10 mutations and all three genes mutation negative.Peripheral blood cells There was no statistical significance in peripheral blood cells(P> 0.05).There was no significant difference in peripheral blood cell count and coagulation index between the positive mutation of MPL exon 10 and the three genes mutantation negative patients(P> 0.05).Only 1 of 8 patients in the PMF group were CALR exon 9 mutations,the rest were JAK2V617 F mutation.Conclusion: The types of gene mutations and gene mutation rates are different for different diseases.Different gene mutations cause different clinical phenotypes and genes mutation has provided the basis for the diagnosis and identification of different subtypes of MPN.