Clinical Characteristics And Prognosis Of Patients With 7 Gene Mutations In Myelodysplastic Syndrome

Objective:To explore the frequency,efficacy and prognosis of common 7 genes mutation in myelodysplastic syndrome（MDS）,thereby guiding clinical treatment.Methods:Sixty four patients of MDS were recruited in this study which stratified by the revised international prognostic scoring system（IPSS-R）from October 2015 to February2018,by analyzing relationship between 7 gene mutations and clinical characteristics,efficacy as well as prognosis through PCR method.Results:1.A total 7 gene mutation rate was 71.9%（46/64）.ASXL1 showed the highest frequency of mutations（37.5%）,followed by TET2 mutations（35.9%）,RUNXL1 and SRSF2 with the same rate（7.8%）and then was DNMT3A（4.7%）,SF3B1 and U2AF1had 3.1%,respectively.Most patients with high risk in IPSS-R were ones with ASXL1mutation,which compared with the group without ASXL1 mutation,the media white blood cell count were lower[2.75（1.40-5.60）×10⁹/L vs.3.50（1.40-9.15）×10⁹/L,P=0.006],as well as overall response rate（ORR）（25.0%vs.52.5%,P=0.031）,the quantitative of WTI1 was higher[275.2（0-4565.0）10^-4×ABL vs.25.8（0-12780）10^-4×ABL,P=0.011]and had shorter OS of twenty-Four months was[（20%±12%）vs.（70%±9%）,P=0.001)];Most patients with low risk in IPSS-R were ones with TET2mutation,which compared with the group without TET2 mutation,the difference of overall response（OS）was not significent（34.8%vs.43.9%,P=0.711）,however,there was significant difference in ORR between the two groups receiving decitabine and low-dose chemotherapy for 2 cycles（77.8%vs.33.3%,P=0.020）2.ORR were 42.2%（27/64）after accepting two course treatment in total of 64 MDS cases.Regression analysis showed that ASXL1mutation（HR=3.234,95%CI:1.017-10.283,P=0.023）was an independent prognostic factor for ORR;3.COX regression analysis ASXL1 mutation（HR=2.620,95%CI:0.945-7.266,P=0.045）、with high risk group patients in IPSS-R（HR=6.76,95%CI:1.340-34.483,P=0.021）and not reached ORR after 2 cycle treatments（HR=5.56,95%CI:1.675-18.182,P=0.005）were independent prognostic factors for OS;4.Univariate analysis showed that the younger group（P=0.069）,diagnosis with MDS-EB（P=0.002）,high quantity of WT1（P=0.035）and high proportion of bone marrow blast cells（P=0.001）influence progression free survival（PFS）of MDS cases,However,multivariate analysis showed that these clinical features were not independent factors for PFS.Conclusion:In total of 64 MDS patients,the frequency of ASXL1 and TET2 mutation is higher,TET2 mutation in low risk IPSS-R group and ASXL1 mutation in high risk IPSS-R group is more common.ASXL1 mutation may be the one of factors that shorten the OS of MDS cases;TET2 mutation does not affect the prognosis and efficacy of MDS,but may respond well to decitabine.