Differential U2AF1 mutation sites, burden and co-mutation genes can predict prognosis in patients with myelodysplastic syndrome

• Published in: Scientific reports 2020-10, Vol.10 (1), p.18622-18622, Article 18622
• Main Authors: Wang, Haiqiong, Guo, Yongbo, Dong, Zhenkun, Li, Tao, Xie, Xinsheng, Wan, Dingming, Jiang, Zhongxing, Yu, Jifeng, Guo, Rong
• Format: Article
• Language: English
• Subjects: 692/308; 692/308/53; 692/308/53/2422; Acute myeloid leukemia; Adolescent; Adult; Aged, 80 and over; Chromosome 7; Chromosome 8; Disease Progression; Female; Gene frequency; Genes; Humanities and Social Sciences; Humans; Male; Medical prognosis; Middle Aged; multidisciplinary; Mutation; Mutation rates; Myelodysplastic syndrome; Myelodysplastic syndromes; Myelodysplastic Syndromes - genetics; Myelodysplastic Syndromes - pathology; Myeloid leukemia; Next-generation sequencing; Patients; Point mutation; Prognosis; Retrospective Studies; Runx1 protein; Science; Science (multidisciplinary); Splicing Factor U2AF - genetics; Survival; Survival Analysis; Young Adult
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-020-74744-z

To investigate the U2AF1 gene mutation site, mutation load and co-mutations genes in patients with myelodysplastic syndrome (MDS) and their effects on prognosis. Gene mutation detection by next-generation sequence and related clinical data of 234 MDS patients were retrospectively collected and analyzed for the relationship between the clinical characteristics, treatment efficacy and prognosis of U2AF1 gene mutation. Among the 234 MDS patients, the U2AF1 gene mutation rate was 21.7% (51 cases), and the median variant allele frequency was 39.5%. Compared with the wild type, the U2AF1 mutant had a higher incidence of chromosome 8 aberration, and was positively correlated with the occurrence of ASXL1 , RUNX1 , SETBP1 gene mutation, negatively correlated with SF3B1, NPM1 genes mutation ( p   40%) had a significantly lower 1-year survival rate (46.1% and 80.5%, p  = 0.027). The criteria of U2AF1 VAF > 40% is an independent indicator for poor prognosis of MDS patients. VAF > 40% of U2AF1 is an independent factor of short OS in MDS patients. MDS patients with a mutation in the Q157P site of U2AF1 and a higher U2AF1 mutation load suggests poor prognosis, and co-mutated genes in U2AF1 can affect disease progression and prognosis.