Analysis Of Gene Mutation And Clinical Characteristics In Patients With Myelodysplastic Syndrome

PurposeTo investigate the relationship between cytogenetic characteristics,gene mutations,clinical characteristics and prognosis of patients with myelodysplastic syndrome(MDS).MethodsThe chromosome karyotype analysis,related gene mutations,and clinical data of 93 newly diagnosed MDS patients diagnosed in the Hematology Department of the Northern Theater General Hospital from December 2017 to February 2020 were collected for correlation analysis.ResultAmong 93 patients with MDS,13 patients had MDS with single-line hematopoietic dysplasia(MDS-SLD),3 patients had MDS with ring-shaped iron granulocytes(MDS-RS),and MDS had multiple-line hematopoiesis(MDS-MLD)21 There were 26 cases of MDS with blasts(MDS-EB-1),29 cases of(MDS-EB-2),and 1 case of MDS with simple del(5q).Cytogenetics: A total of41 cases were detected with chromosomal abnormalities,with a detection rate of 44.09%;16 of them had complex karyotypes,accounting for 17.20% of all patients.The detection rate of gene mutations in 52 patients with normal karyotype MDS was 78.8%(41/52).The probability of at least one mutation inthe 34 genes tested was 79.57%(74/93).There was a significant difference in the mutation rate of each subtype,with the highest incidence of MDS-EB-2(93.10%)(27/29),The incidence of MDS-SLD was the lowest(38.46%)(5/13).Compared with the gene mutation group and the non-gene mutation group,there were statistically significant differences in the proportion of bone marrow blasts,hemoglobin,lactate dehydrogenase and β2 microglobulin.Patients with genetic mutations had significantly higher IPSS-R scores than those without mutations(P<0.01),and the patients with TP53 mutations had significantly higher IPSS-R scores(7.82 ± 1.83)than those without TP53 mutations(3.77 ±1.66,P<0.01);there was no significant difference in IPSS-R scores between the patients with TET2,ASXLI,RUNX1,and SF3B1 mutations and the patients without the mutations(P> 0.05).ConclusionGene mutations have a high detection rate in patients with MDS,regardless of whether the karyotype is normal.Some mutant genes have special significance in the clinical characteristics and laboratory index analysis of MDS patients,and have a positive effect on prognostic evaluation.However,the prognostic value of most gene mutations is still unclear,and more and deeper research is needed.