Mutations in the splicing factor SRSF2 are found in 5-15% of patients with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) and are linked to poor prognosis. Currently, there are no targeted therapies for patients with these mutations. To identify therapeutically targetable ...
急性髓系白血病SRSF2基因突变患者临床病理特征及预后生存分析
1P95Hand1P95Rpointmutations.Therewerenosignificantlystatisticaldifferencesintermsoftheirclinicalcharacteristicsbe-tweenmutantandwildtypegroup.ConclusionSRSF2mutationwasnotfrequentlyoccurredinCMMLpatientsandmightassociatedwithpoorprognosis.Itmightbeapraticallydiagnosticmakerandtherapeu-tictargetinCMML.【Keywords】Gene,SRSF2...
RNA splicing alterations induce a cellular stress response associated with poor prognosis in AML. bioRxiv. 2020;2020.01.10.895714. Liang Y, Tebaldi T, Rejeski K, Joshi P, Stefani G, Taylor A, et al. SRSF2 mutations drive oncogenesis by activating a global program of aberrant alternative ...
A recent report in a cohort of 119 patients, of whom 33 had splice mutations and 24 were SRSF2 mutated, reported the lack of impact of splice-mut on prognosis of AML patients treated upfront with Hypomethylating agents (HMA) + VEN in clinical trials (Lachowiez, C. A. et al Blood ...
Then, we carried out uni- and multivariable Cox-regression analyses, and found that SRSF2-mutant MDS/MPN showed a significantly better prognosis compared to MDS (HR=.44, P=.008) and AML-MDS (HR=.47, P<.001). Conversely, having 20% or more bone marrow blasts or exceeding this ...
1. AML probability of SRSF2 and SF3B1 splicing genes in MDS patients without harboring ring sideroblast. The leukemia free survival in patients with SRSF2 mutation was inferior to the WT (p=0.001). However, no statistical significance of the leukemic transformation was observed in the patients ...
Both ASXL1 and SETBP1 mutations in CNL have been associated with a poor prognosis, whereas, SRSF2 mutation was undetermined. Our patient was a 77-year-old man and had no significant past medical history and symptoms with leukocytosis. Bone marrow (BM) aspirate and biopsy revealed a markedly ...