Clinical Characteristics and Prognosis Analysis of MDS Patients with Mutated RUNX1
Objective To investigate the clinical characteristics and prognostic effects of myelodysplastic syndromes(MDS)patients with mutated RUNX1.Methods Bone marrow samples from 661 newly diagnosed MDS patients in the Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were collected.A series of gene mutations were detected by next generation sequencing(NGS).The clinical characteristics,common mutation profile and prognostic significance of patients with mutated RUNX1 were analyzed retrospectively.Results Of the 661 patients with MDS,65had RUNX1 mutation.Compared with patients without RUNX1 mutation,patients with RUNX1 mutation had an increased proportion of bone marrow blasts(P＜0.001),and were more concen-trated in higher-risk group of Revised International Scoring System(IPSS-R,P＜0.001)and high/very high risk group of IPSS-Mo-lecular(IPSS-M,P＜0.001).59 patients with RUNX1 mutation also had other mutations,such as ASXL1(24.62％),TET2(24.62％),EZH2(21.54％)and U2AF1(21.54％),which mainly belong to epigenetic genes(63.62％)and splicing genes(38.46％).Further,correlation analysis showed that RUNX1 mutation were positively correlated with EZH2,PHF6 and U2AF1 mutations(Q＜0.05).Patients with RUNX1 mutation had shorter overall survival(16months vs 47months,P＜0.001)and higher risk of acute myeloid leukemia(AML)transformation than wild-type RUNX1(P＜0.001).However,there was no significant differences in overall survival between RUNX1 funding clones and subclones.Conclusion RUNX1 mutations have a high incidence in MDS patients,which are often accompa-nied by mutated epigenetic genes and splicing genes.RUNX1 mutations predicts shorter overall survival and higher risk of AML transfor-mation.
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