Analysis Of Clinical Features And Gene Mutations Of 102 Patients With Myelodysplastic Syndrome

Objective:To collect clinical data of patients diagnosed with Myelodysplastic Syndrome(MDS)in Qilu Hospital of Shandong University and explore the clinical features and gene mutation characteristics of MDS patients.Materials and methods:Collecting patients diagnosed with Myelodysplastic Syndrome(MDS)in the hematology department of Qilu hospital,Shandong university from August 2016 to December 2019 as the study subjects.The medical data of 102 MDS patients in Qilu Hospital were analyzed retrospectively,including age,sex,peripheral blood cell count(hemoglobin count,neutrophil count,platelet count),bone marrow morphology and biopsy,karyotype,FISH detection,molecular biology,MDS subtype.Using SPSS21.0 statistical software for data analysis,P<0.05 was statistically significant.Results:1.Among the 102 patients,61 were male and 41 were female,with a male-to-female ratio of 1.49:1.The range of onset age was 27-87 years old,and the median age was 58.5 years.Peripheral blood cell count:average hemoglobin(HGB)count was 73.82 g/L(range 18-130g/L);median neutrophil(NE)count was 1.07*10^9/L(range 0.12-40.46*10^9/L);median platelet(PLT)count was 59*10^9/L(range 4-572*10^9/L).The proportion of normal karyotype was 53.92%;the proportion of abnormal karyotype was 46.08%.Meanwhile,chromosome 8,20,7,5 abnormalities were most common.According to WHO(2016)MDS classification,there were 3 patients diagnosed with MDS-SLD,37 patients diagnosed with MDS-MLD,1 patient diagnosed with MDS-RS-SLD,11 patients diagnosed with MDS-RS-MLD,20 patients diagnosed with MDS-EB-1,25 patients diagnosed with MDS-EB2,2 patients diagnosed with MDS with simple del(5q)2,3 patients diagnosed with MDS-U.According to IPSS-R risk group,there were 5 patients of extremely low risk,26 patients of low risk,29 patients of medium risk,21 patients of high risk,21 patients of extremely high risk.2.All of the 102 patients were tested for Molecular biology,and 76 patients carried at least one gene mutation,with a mutation rate of 74.5 1%.There were 32.35%of patients with a single gene mutation,24.51%with two genes mutation,11.76%with three genes mutation,4.90%with four genes mutation,0.99%with five genes mutation.The rate of gene mutation from high to low was U2AF1(21.57%,22/102),ASXL1(20.59%,21/102),SF3B1(17.65%,18/102),TP53(12.75%,13/102),TET2(11.76%,12/102),DNMT3A(9.80%,10/102),SRSF2(8.82%,9/102),SETBP1(6.86%,7/102),NRAS(4.90%,5/102),IDH2(3.92%,4/102),ZRSR2(3.92%,4/102),NPM1(3.92%,4/102),AML1(2.94%,3/102),PHF6(2.94%,3/102),CEBPA(1.96%,2/102),FLT3(1.96%,12/102),JAK2(1.96%,2/102),CBL(0.98%,1/102),ETV6(0.98%,1/102),IDH1(0.98%,1/102).According to classification of biological function.the gene mutations from high to low were RNA splicing factors,epigenetically regulation,DNA repair,signal transduction pathways,transcription.3.Clinical features of common gene were analysed,including age,sex,peripheral blood cell count(HB,PLT,NE),karyotype,WHO(2016)typing.Patients with TP53 mutation were older,and had a higher proportion of abnormal karyotype.Patients with TET2 mutation had higher proportion of male patients and normal karyotype.Neutrophil count and platelet count of SF3B1 mutant patients were higher than the non-mutant,and the SF3B1 mutant has higher proportion of MDS-RS subtype.All above was statistically significant(P<0.001).4.Based on the classification of IPSS-R risk,the prognosis group was deeply divided into lower risk group and higher risk group.SF3B1 and TET2 mutations were associated with lower risk groups,and the difference was statistically significant(P<0.05).As for,U2AF1,ASXL1 and TP53 mutations,there were no significant difference between the two groups(P>0.05).Conclusion:1.There was a high positive rate of gene mutation in MDS patients.The common mutant genes in this study were U2AF1(21.57%),ASXL1(20.59%),SF3B1(17.65%),TP53(12.75%),TET2(11.76%).According to biological function classification,RNA splicing factors mutation and epigenetically regulation mutation were common.2.In this study,correlation between common gene mutation and clinical features was analysed.Patients with TP53 mutation had older age and higher proportion of abnormal karyotype.In patient with TET2 mutation,the male patient and normal karyotype were common.There were higher neutrophil and platelet counts and higher proportion of MDS-RS subtypes of patients with SF3B1 mutation.