Correlation Study Of Karyotype And ASXL1?DNMT3A Mutation In Myelodysplastic Syndromes With Different TCM Syndromes

Objective:To explore the correlation of karyotype and ASXL1?DNMT3A mutation in MDS with different TCM Syndromes and the essence of prognosis is discussed from the perspective of genetics.Methods:The prognostic scores for 220 patients were calculated using IPSS-R.Karyotypes analysis and R-banding techniques were performed in all patients by short-term culture.The next-generation sequencing was used to detect the mutation status of ASXL1 and DNMT3 A gene in 120 patients.Result:(1)There was a correlation between the TCM Syndrome of MDS and IPSS-R prognostic scores(P<0.05,R=0.596).Patients with Kidney deficiency and blood stasis had worse prognosis than patients with spleen and kidney deficiency while qi and blood loss.(2)Patients with abnormal karyotypes were 45.9% and frequency of +8?-7/7q-?-5/5q-were the highest.Karyotypes prognosis groups were statistically significant differences in the intermediate and good(P<0.05),while it was not statistically differences in the intermediate and poor(P>0.05).(3)Patients with ASXL1 and DNMT3 A mutation were 15.8 % and 14.2 %,respectively.Compare it to their wild types,ASXL1 had statistically significant differences(P1<0.05)and DNMT3 A had not(P1>0.05).(4)Among 220 patients,97 deaths.Respectively,the median survival time of the karyotypes in good,intermediate,poor and very poor was 63?37?21?16 months(P<0.005).The median survival time of Kidney deficiency and blood stasis and spleen was 16 months and kidney deficiency while qi and blood loss was 63 months(P<0.005).(5)Among 120 patients with genetic mutation analysis,75 deaths.The median survival time of mutant and wild type was 16 and 32 months respectively.The median survival time in DNMT3 A mutant was 18 months and the wild type was not obtained during the follow-up period(P<0.05).Conclusion:The IPSS-R prognostic scores are relative factors of TCM syndromes of MDS.Karyotypes and ASXL1 and DNMT3 A genes have particularities in different TCM syndromes of MDS.It reflects the nature of the disease from genetic perspective,and provided objective evidence for the pathogenetic evolvement of MDS in TCM.Differences of survival times in different TCM syndromes hint that TCM syndrome can be used as an important reference for prognostic evaluation in patients with MDS.The study also provid--es genetic evidence for TCM syndrome and tiered therapy in MDS.