Analysis Of Related Factors Of Molecular And Cytogenetic Abnormalities In Patients With Aplastic Anemia

Objective:To investigate the incidence and characteristics of gene mutation and chromosomal abnormalities in aplastic anemia(AA),and to analyze the correlation of clonal hematopoiesis with clinical features and the effect of immunosuppressive therapy(IST)in patients with aplastic anemiaMethod:From January 2016 to August 2020,91 patients with AA were enrolled in this study.The clinical data of all patients were collected by electronic medical record system and analyzed retrospectively.At the same time,the curative effect of IST was followed up.Statistical software SPSS23.0 was used to analyze the data.Results:1.Among 91 newly diagnosed AA patients,23 had myeloid tumor related gene mutations,with a mutation rate of 25.3%.A total of 26mutations in 11 genes were detected.The top two mutations were TET230.77%(8/26)and ASXL1 23.08%(6/26).There were 2 gene mutations in 3 patients,and the others were single gene mutations.2.(1)the proportion of patients with gene mutation≤60 years old and>60 years old were 17.7%(11/62)and 41.4%(12/39)respectively,and the difference between the two groups was statistically significant(χ~2=5.845,P=0.016).According to logistic regression analysis,age was a risk factor for gene mutation in AA patients(OR=3.273,P=0.018).(2)There were 16(32.7%)male patients with gene mutation and 7(16.7%)female patients with gene mutation.There was no significant difference between the two groups(χ~2=3.060,P=0.080).(3)There were 11 cases of gene mutation in NSAA(26.8%),5 cases of gene mutation in SAA(15.2%)and 7 cases of gene mutation in vsaa(41.2%).There was no significant difference among the three groups(χ~2=4.119,P=0.128).However,in AA patients over 60 years old,the difference of gene mutation rate among the three groups was statistically significant(χ~2=6.90,P=0.028).There was no significant difference in mutation rate among the three groups in AA patients≤60 years old(χ~2=4.855,P=0.089).3.Among the 91 newly diagnosed AA patients,80(87.9%)had normal karyotype and 11(12.1%)had abnormal karyotype.All the 11 patients had single abnormal karyotype,including+8,-Y and 20q-.There was no correlation between sex,age,severity of disease and chromosomal abnormality(P=0.487,P=0.997,P=0.209).4.In this group,the effective rates of ist treatment in gene mutation group and non mutation group were 66.7%and 57.1%respectively,and there was no significant difference between the two groups(χ~2=0.513,P=0.474).There was no significant difference between the two groups(χ~2=0,P=1).Conclusion:1.The overall mutation rate of myeloid tumor related genes in AA patients was 25.3%,and the incidence of chromosomal abnormalities was12.1%.2.The mutation rate of myeloid tumor related genes is higher in AA patients over 60 years old,and the occurrence of gene mutation is related to the severity of the disease.3.There was no relationship between the effect of IST and the occurrence of gene mutation and chromosomal abnormality in AA patients.