The Effect Of Gene Mutations In Myelodysplastic Syndrome On Diagnosis And Prognosis With 55 Clinical Cases Analysis

Objective: To collect clinical data of 55 patients with Myelodysplastic syndromes(MDS)from the First Hospital of Lanzhou University,and to investigate the clinical features of MDS patients,especially the impact of gene mutations on early diagnosis,prognosis assessment and treatment.Materials and Methods: A total of 55 patients with MDS diagnosed at the Department of Hematology of the First Hospital of Lanzhou University from June 2015 to January 2018 were collected and classified according to the 2016 WHO standard.Retrospective analysis of gender,age,blood routine,bone marrow cell morphology and biopsy,chromosome karyotype,FISH detection,gene mutation,diagnosis and prognosis.SPSS 22.0 statistical software was used for data analysis,P<0.05 was statistically significant.Results: Among the 55 patients with MDS,according to the 2016 WHO classification,there were 3 cases of MDS-SLD,22 cases of MDS-MLD,9 cases of MDS-EB-1,15 cases of MDS-EB-2,and 1 case of MDS-5q-1.There were 2 cases of MDS-U and 3 cases of MDS-EB-T.Among the different MDS diagnostic subtypes,the difference in neutrophil absolute value was statistically significant(P<0.05),among which MDS-SLD was higher than other subtypes.According to the IPSS prognostic scoring system,patients were divided into 6 low-risk patients,26 moderate-risk patients,2-17 intermediate-risk patients,and 6 high-risk patients.The IPSS-R prognostic scoring system was very low-risk in 1 patient and low-risk in 16 patients.There were 14 cases of intermediate risk,11 cases of high risk,and 13 cases of extremely high risk.In the IPSS prognostic scoring system,there was a statistically significant difference in the subgroups of prognosis and chromosomal abnormalities and diagnosis subtypes.The high-risk chromosomal abnormality rate was 100%,and the chromosomal abnormality rate of moderate-risk-2 was 35.7%,among which EB-2 The proportion was 64.7%,and the proportion of high-risk group EB-2 was 50%,and the difference was statistically significant.In 55 patients with MDS,only 34 patients were examined for gene mutations and the mutation rate was 48.38%.There was no significant difference in the diagnosis subtypes and prognostic stratification.Conclusion: According to the 2016 WHO diagnostic typing,The absolute value of neutrophils in different diagnostic subtypes is statistically significant,and MDS-SLD is higher than other diagnostic subtypes.The proportion of chromosomal abnormalities in patients with high prognostic stratification risk was increased,and the proportion of MDS-EB-2 in the diagnostic subtypes was higher in the intermediate-risk-2 and high-risk groups.Gene mutations have important implications for the diagnosis and prognosis of MDS.However,in this study,the effect of gene mutations on the diagnosis and prognosis was not statistically significant,and it was related to a small number of cases.MDS treatment,according to different groups of prognosis,can choose the appropriate first-line treatment,hematopoietic stem cell transplantation is still the only cure;current MDS treatment hotspots based on gene mutation targeted therapy,many targeted drugs have been put into clinical trials.