We performed comprehensive analysis for prognostic significance of U2AF1 mutations in acute myeloid leukemia (AML) cohort based on The Cancer Genome Atlas (TCGA) database. Functional analysis of U2AF1S34F mutation was performed in vitro. Differentially expressed genes (DEGs) and significantly enriched...
[9]Chen C, Zhou P, Zhang Z, Liu Y. U2AF1 mutation connects DNA damage to the alternative splicing of RAD51 in lung adenocarcinomas. Clin Exp Pharmacol Physiol. 2022 Jul;49(7):740-747. doi: 10.1111/1440-1681.13646. Epub 2022 May 10. PMID: 35434831. [10]Esfahani MS, Lee LJ, Jeon...
近年研究结果表明,U2AF1基因突变可能是MDS及急性髓细胞白血病(AML)发生、发展中的早期事件,伴该突变的MDS患者通常具有较高的向白血病转化的风险与较低的生存率。综合考虑U2AF1基因突变及其相关的分子生物学改变,对于预测MDS患者的预后具有重要的临床价值。笔者拟就U2AF1基因突变的分子机制及其功能意义进行综述,以期为寻找...
近年研究结果表明,U2AF1基因突变可能是MDS及急性髓细胞白血病(AML)发生、发展中的早期事件,伴该突变的MDS患者通常具有较高的向白血病转化的风险与较低的生存率。综合考虑U2AF1基因突变及其相关的分子生物学改变,对于预测MDS患者的预后具有重要的临床价值。笔者拟就U2AF1基因突变的分子机制及其功能意义进行综述,以期为寻找...
Spliceosome mutations are common in myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML), but the oncogenic changes due to these mutations have not been identified. Here a global analysis of exon usage in AML samples revealed distinct molecular subsets containing alternative spliced isoforms...
U2AF1突变会导致多种肿瘤的发生,尤其是在骨髓增生性综合征(MDS)和急性髓样白血病(AML)等血液恶性肿瘤中较为常见。血液肿瘤NCCN指南明确将U2AF1基因S34,Q157突变确定为预后不良因子。 图5 摘自《骨髓增生异常综合征NCCN临床实践指南》 在实体瘤中,约3%的肺腺癌患者存在U2AF1基因突变,前列腺癌和卵巢交界性肿瘤中也有...
comAbstract Objective:To investigate the incidence,clinical features of U2AF1 gene mutation in patients with acutemyeloid leukemia(AML)and its effect of prognosis. Methods:A total of 161 patients with AML were enrolled. Thesecond-generation sequencing method was used to detect U2AF1 gene mutation,...
than60yearsold(P<0 05).Conclusion The incidenceofU2AF1mutationinAMLpatientsislow,anditoftencoexistswithothergenemutations.Moderateandpoor chromosomekaryotypesarecommoninpatientswithAML.Differentmutationsiteshavedifferentprognosticsignificance.U2AF1 mutationisapoorprognosticfactorinyoung(<60yearsold)patientswithAML....
Mutations in U2AF1 were found in 2.5% (7/275) of AML and 6.3% (6/96) of MDS patients, but in none of 81 CML. All mutations were heterozygous missense mutations affecting codon S34 or Q157. There was no significant association of U2AF1 mutation with blood parameters, FAB subtypes, ...
Our data further suggest that H2AFY occupancy at the promoter region of Ebf1 may directly regulate its expression as a potential mechanism underlying B cell deficiencies observed in U2AF1(S34F) mice and MDS patients with a U2AF1 mutation. H2AFY is generally considered a transcription repressor ...