Analysis Of Driver Gene Mutations And Clinical Characteristics Of Philadelphia Chromosome-negative Myeloproliferative Neoplasms

Objective:To investigate the relationship between phenotypic driver gene mutations and major clinical characteristics or laboratory test results in Philadelphia chromosome-negative myeloproliferative neoplasms(MPN)patients.To analyze the correlation of different phenotypic driver gene mutations and the number of mutations with clinical characteristics and routine laboratory test results,so as to provide some references for clinical diagnosis and treatment decision.Methods:A retrospective analysis was performed on the outpatient and inpatient medical records of 170 patients with Philadelphia chromosomenegative myeloproliferative neoplasms diagnosed in the outpatient and inpatient departments of Sichuan provincial people’s Hospital from December 31,2015 to December 31,2020.JAK2V617F gene,MPL gene at exon 10,CALR gene at exon 9 and Routine blood test were detected in all patients.The medical records of all patients described whether there were splenomegaly,thrombotic events,and cardiovascular risk factors.Among them,94 patients were tested for coagulation function,lactic dehydrogenase and serum ferritin.The bone marrow puncture morphology and bone marrow biopsy reports of 103 patients were Found.T-cell subsets in peripheral blood were detected in 21 patients.Karyotype analysis was performed in 83 patients.Platelet aggregation function was detected in 20 patients with essential thrombocytosis.Results:1.Among the 170 MPN patients,there were 103 patients with essential thrombocytosis,25 patients with primary myelofibrosis,12 patients with polycythemia vera and 30 patients with unclassified MPN.Among the collected MPN patients,127 patients had JAK2V617F gene mutation,24 patients had CALR gene mutation,4 patients had MPL gene mutation,and 14 patients were "triple negative"(Negative for JAK2V617F gene mutation,negative for CALR gene mutation and negative for MPL gene mutation).One patient with both JAK2V617F mutation and exon 9 mutation of CALR gene.2.The age level of patients with JAK2V617F mutation,CALR mutation and MPL mutation was higher than that of patients with "triple negative"(P<0.05).The level of white blood cell count in the JAK2V617F gene mutation group was higher than that in the CALR gene mutation group and the "triple negative" patients(P<0.05),while the level of platelet count was lower than that in the CALR gene mutation group and the "triple negative" patients group(P<0.05).The hemoglobin level in JAK2V617F gene mutation group was higher than that in CALR gene mutation group and MPL gene mutation group(P<0.05).3.The incidence of splenomegaly in the JAK2V617F gene mutation group was higher than that in the "triple negative" group(P<0.05).4.The APTT time of coagulation function in JAK2V617F gene mutation group and CALR gene mutation group was higher than that in"triple negative" group(P<0.05).5.The level of lactic dehydrogenase in JAK2V617F gene mutation group and CALR gene mutation group was higher than that in "triple negative" group(P<0.05).6.There was no significant difference in platelet aggregation among different driver gene mutations in patients with Essential thrombocytosis(P>0.05).7.There was no significant difference in the number of bone marrow megakaryocytes and the grade of bone marrow reticular fibrosis with different driver gene mutations in MPN(P>0.05).8.There was no significant difference in T-cell subsets among the 21 MPN patients tested for T cell subsets with different driver mutations(P>0.05).9.Chromosome karyotypes were detected in 83 MPN patients,and the detection rate of abnormal karyotypes was 12.05%,among which the detection rate of abnormal karyotypes was the highest in patients with primary myelofibrosis.Conclusion:There were differences in the age of newly diagnosed patients with different phenotypic driver gene mutations in MPN,and there were also differences in clinical characteristics and some laboratory indexes.The incidence of abnormal karyotypes in different types of MPN patients is different.The analysis of the relationship between phenotypic driver mutations and clinical or experimental examination is helpful to clinical diagnosis and treatment decision-making.