Correlation Analysis Of The Distribution And Clinical Characteristics Of Driver And Non-Driver Genes In Patients With Myeloproliferative Neoplasms

Objective:Detect the mutation distribution of driver genes such as JAK2,CALR and MPL and non-driver genes such as ASXL1,TET2 and TP53 in patients with MPN by the next generation sequencing.Find out the relationship between gene mutation status with MPN disease phenotype,clinical features and laboratory examination results,which can assist the diagnosis,prognosis judgment and curative effect evaluation of MPN.Methods: Collect the clinical data including medical history,laboratory examination,imaging and pathological examination by the impatient medical record system of the First Affiliated Hospital of Shantou University Medical College.Detect the result of MPN-related gene mutation by the self-service system of King Med Diagnostics in Guangzhou.And then analyze the data through SPSS 22.0 statistical software.Results:1.86.99% of MPN patients detected at least one driver gene mutation in JAK2,CALR and MPL,and 52.85% detected one or more non-driver gene mutations.2.PV patients with JAK2 mutation have the characteristics of older age,higher white blood cells,higher platelets and lactate dehydrogenase;ET patients with CALR mutation are younger,which have lower white blood cells and higher platelet counts compared with those with JAK2 mutation;PMF patients with CALR mutation show higher white blood cells,higher hemoglobin and lactate dehydrogenase,but there may be some errors due to the small sample size.3.Compared with patients without non-driver gene mutations,patients with high-molecular risk gene mutations such as ASXL1,SRSF2,EZH2,IDH1/IDH2 and poor prognosis gene mutations such as TET2 and TP53 are more likely to have the characteristics of advanced age,higher white blood cells,lower hemoglobin and platelets.at the same time,indicators of tumor burden such as lactate dehydrogenase and degree of myelofibrosis are often higher.Conclusion: 1.86.99% of MPN patients in this area expressed at least one driver gene mutation,while 52.85% of them expressed one or more non-driver gene mutations,of which the nondriver gene mutations with higher mutation rates include TET2,ASXL1,TP53,etc.2.There were significant differences in age,sex distribution,blood cell counts and degree of fibrosis between patients with non-driver gene mutations and patients without.3.Adding the detection of non-driving gene mutations on the basis of driving gene mutations is helpful to identify the disease phenotype and prognosis risk level of patients in the early stage,and then guide to carry out precise therapy to slow down the progression of diseases,prevent and cure complications and improve the final prognosis of MPN patients.