Gene Mutation Analysis Of Myeloid Tumor In Primary Myelofibrosis

Objective:1.To investigate the expression of myeloid tumor gene mutations in patients with primary bone marrow fibrosis.2.To analyze the relationship between myeloid gene mutations and hematological characteristics of patients with primary myelofibrosis.3.To analyze the influence of myeloid gene mutation on the survival of patients with primary myelofibrosis.Methods:To collect the clinical data of 60 patients with primary myelofibrosis in Lianyungang second people’s Hospital and Jiangsu Provincial people’s Hospital from January 2014 to February 2019.The relationship between gene mutation and hematological characteristics was analyzed by independent sample T test;Kaplan-Meier method was used to analyze the survival differences between gene mutation groups;Cox proportional risk model was used to analyze the influence of gene mutation on prognosis.Results:Among the 60 patients with newly diagnosed primary myelofibrosis,43 patients(71.7%)were detected with gene mutation,involving a total of 18 mutated genes.The genes with high mutation frequency were JAK2(27 cases,45%),TET2(17 cases,28%),ASXL1(9 cases,15%),CALR(5 cases,8%)and U2AF1(5 cases,8%),among which,29cases(48%)in the three negative group(JAK2-CALR-MPL-),6 cases(10%)in the CALR-/ASXL1+group,and 17 cases(28.3%)were not detected with any mutation.The white blood cell count(P=0.009)and platelet count(P=0.029)in the JAK2 mutant group were higher than those in the non-mutant group,and the hemoglobin content(P=0.043)and platelet count(P=0.004)in the ASXL1 mutant group were lower than those in the non-mutant group;The white blood cell count(P=0.016)and hemoglobin content(P=0.002)in the JAK2 mutation group were higher than those in the three-negative group,and the hemoglobin content(P=0.011)and platelet count(P=0.009)in the CALR mutation group were higher than those in the three-negative group.Kaplan-Meier method showed that the ASXL1 mutation group(P=0.048),the three-negative mutation group(P=0.0018),and the CALR-/ASXL1+ mutation group(P=0.0009)had worse survival.Cox univariate survival analysis showed that the survival time of ASXL1 mutation group(P=0.048),three negative group(P=0.0018),CALR-/ASXL1+ group(P=0.0009)and male group(P=0.006)was short.Cox multivariate analysis showed that ASXL1 mutation(P=0.022),three negative group(P=0.001),CALR-/ASXL1+(P=0.028),male(P=0.049)were adverse risk factors affecting the survival of primary myelofibrosis.Conclusion: The gene mutation rate was higher in patients with primary myelofibrosis;JAK2 、 ASXL1 、 CALR gene mutation is related to hematological characteristics;Male,ASXL1 mutation,triple negative mutation,and CALR-/ASXL1+mutation are associated with poor prognosis.