Clinical Characteristic And Prognosis Analysis For Patients With Myelodysplastic Syndrome Of ASXL1 Gene Mutation

Objectives:The purpose of the paper was to investigate the clinical features,curative effect and prognosis of patients by myelodysplasia syndrome(MDS)with ASXL1 gene mutation,and to analyze the association between ASXL1 gene and other related genes of MDS.Methods:According to the 2016 WHO diagnostic classification criteria,the 86 patients with newly diagnosed MDS who were admitted to Bethune International Peace Hospital from January 1,2015 to August 31,2018 were collected.MDS-related genes such as ASXL1,RUNX1,U2AF1,TET2,and SF3B1 were detected by PCR and second-generation sequenc ing.The 86 patients with MDS were divided into ASXL1 mutation gro up and non-mutation group according to whether ASXL1 gene mutation was associated and whether there were differences in blood routine,bo ne marrow,chromosomes etc.The effect of demethylation treatment on the efficacy and prognosis of patients with MSD with relatively high ris k of ASXL1 gene mutation was observed.Results:1.ASXL1 gene mutation rate: 86 cases of newly diagnosed MDS,12 cases of ASXL1 gene mutation group,74 cases of unmutated group,the mutation rate was about 12/86(13.9%).2.Sex and age of patients: ASXL1 gene mutation group male to female ratio 2:1,unmutated group 1.5:1,statistical analysis,there was no statistically significant difference between the two groups(P=0.876);ASXL1 gene mutation The mean age of the group was 67 years,and the unmutated group was 57 years old.There was a statistically significant difference between the two groups(P=0.013).3.Routine laboratory examination: It had not significant statistics differences for the ASXL1 gene mutation group MDS patients and non-mutation group in peripheral blood leukocytes,neutrophils,red blood ce lls,hemoglobin,platelets,lactate dehydrogenase,bone marrow hyperplasi a and blast cells etc.(P>0.05).4.WHO classification and chromosome: ASXL1 gene mutation M DS patients were most common in EB-II subtype 41.7%(5/12),unmutated group was 20.3%(15/74),and there was no statistically significant di fference between the two groups(P=0.080).The normal chromosome karyotype difference was 8.3%(1/12).There was no significant difference in karyotype between the two groups(P=0.388).The abnormal rate of +8 chromosome was 25.0%(3/12).There were significant statistical diff erences in 8 chromosomal abnormalities(P = 0.017).5.MDS with other related gene mutations: ASXL1 gene mutation group with U2AF1,TET2 gene mutation rate were 33.3%、41.7%,unm utated group were 8.1%、9.5%,respectively,with U2AF1、TET2 gene mutation between the two groups There was a statistically significantd ifference(P=0.041、0.011),and there was no statistically significant difference in the RUNX1 and SF3B1 gene mutations(P=0.101、0.739).6.IPSS-R prognosis risk group: Among the MDS patients in ASX L1 mutation group,there were 3 cases(25.0%)in the relatively low-risk group and 9 cases(75.0%)in the relatively high-risk group,41 cases(55.4%)in the relatively low-risk group and 33 cases(44.6%)in the relatively high-risk group in the non-mutation group,and there was no significant difference in the prognostic risk group between the two groups(P=0.051).7.The efficacy and prognosis of demethylation drug decitabine co mbined with CAG regimen in the ASXL1 mutation group: the demethylation drug decitabine combined with the CAG regimen and the CAG re gimen group had an ORR of 75.0%.And 20.0%,there was no statistically significant difference in ORR between the two groups(P = 0.330).The OS of the two groups was 18 months and 14 months,respectively.There was statistically significant difference in prognosis between the two groups(P=0.017).Conclusion:1.The median age of the ASXL1 gene mutation group was larger than that of the unmutated group.2.According to the 2016 WHO classification,there was no signifi cant difference in the subtype mutation rate of ASXL1 gene mutation MDS patients.3.ASXL1 gene mutation MDS patients were often associated with+8 chromosomal abnormalities,and there was a correlation with U2AF1,TET2 gene mutations.4.Treatment of MDS patients with ASXL1 gene mutation combin ed with CAG regimen may improve the efficacy and prognosis of the relatively high-risk group.