MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We also verified aberrant splicing of key genes USP9X, USP24 (deubiquitinating enzymes), LUC7L2 (splice factor) and EED (PRC2 component) in MDS harboring small deletions of SRSF2.
|
31680297 |
2020 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Consistent with this, co-expression of mutant IDH2 and SRSF2 resulted in lethal myelodysplasia with proliferative features in vivo and enhanced self-renewal in a manner not observed with either mutation alone.
|
31578525 |
2019 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In this study, we characterized MDS-associated SRSF2 mutants (P95H, P95L, and P95R).
|
31040863 |
2019 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In conclusion, SRSF2 mutations were significantly related to the shorter OS in patients with MDS which may consider as an adverse prognostic risk factor.
|
29757120 |
2018 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recurrent mutations in the splicing factor SRSF2 are associated with poor clinical outcomes in myelodysplastic syndromes (MDS).
|
29858584 |
2018 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A total of 10 cohort studies, covering 1864 patients with de novo MDS and 294 patients with SRSF2 mutations, were included in the final meta-analysis.
|
28953917 |
2017 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
To test this hypothesis, we engineered mice to express a mutated allele of serine/arginine-rich splicing factor 2 (Srsf2(P95H))-which commonly occurs in individuals with MDS and AML-in an inducible, hemizygous manner in hematopoietic cells.
|
27135740 |
2016 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
As an example, missplicing of the enhancer of zeste homolog 2 histone methyltransferase premRNA in response to hot spot mutation of the splicing factor SRSF2 was found to participate to the pathogenesis of myelodysplastic syndrome.
|
26575690 |
2016 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In total, 122 patients with MDS (30%), acute myeloid leukemia (51%), myeloproliferative neoplasms (MPN) (11%), and MDS/MPN (8%) receiving a HCT from 2003 to 2012 were evaluated for mutations in U2AF1 and SRSF2 by direct sequencing.
|
26799334 |
2016 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
AlteredExpression
|
group |
BEFREE |
MDS-related P95 point mutants of SRSF2 were expressed and phosphorylated at similar levels as wildtype SRSF2.
|
27552991 |
2016 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
RNA-seq analyses of telomere dysfunctional CMP identified aberrantly spliced transcripts linked to pathways relevant to MDS pathogenesis such as genome stability, DNA repair, chromatin remodeling, and histone modification, which are also enriched in mouse CMP haploinsufficient for SRSF2 and in CD34(+) CMML patient cells harboring SRSF2 mutation.
|
25965571 |
2015 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We also demonstrated that the U2AF1 and SRSF2 mutations were associated with an unfavorable prognostic impact in MDS patients without RS.
|
26115659 |
2015 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
BCR are not common in MDS and are associated with poor survival, which might be influenced by the presence of SRSF2 mutation.
|
25977195 |
2015 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
By contrast, mutations affecting spliceosome genes SF3B1 and SRSF2, closely associated with the myelodysplastic syndromes, were identified only in those aged >70 years, with several individuals harboring more than one such mutation.
|
25732814 |
2015 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Development of a high-resolution melting curve analysis screening test for SRSF2 splicing factor gene mutations in myelodysplastic syndromes.
|
25445211 |
2015 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
These findings suggest that intact SRSF2 is essential for the functional integrity of the hematopoietic system and that its mutations likely contribute to development of myelodysplastic syndromes.
|
26124281 |
2015 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recent studies are shedding light on the molecular basis of myelodysplasia and how mutations and epimutations can induce and promote this neoplastic process through aberrant transcription factor function (RUNX1, ETV6, TP53), kinase signalling (FLT3, NRAS, KIT, CBL) and epigenetic deregulation (TET2, IDH1/2, DNMT3A, EZH2, ASXL1, SF3B1, U2AF1, SRSF2, ZRSR2).
|
24903747 |
2014 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
Comutation of TET2 and SRSF2 was highly predictive of a myeloid neoplasm characterized by myelodysplasia and monocytosis, including but not limited to, chronic myelomonocytic leukemia.
|
24970933 |
2014 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
SRSF2 mutations were identified in 16 (44%) of 36 CMMLs, including 1 of 3 cases with associated systemic mastocytosis, 4 (20%) of 20 Ph- MPN, and 1 (4.5%) of 22 MDS.
|
25305095 |
2014 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
IDH mutations are closely associated with mutations of DNMT3A, ASXL1 and SRSF2 in patients with myelodysplastic syndromes and are stable during disease evolution.
|
24115220 |
2014 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The aim of the present study was to develop a new approach to screen SRSF2 mutation and analyze the clinical relevance of SRSF2 mutations in Chinese MDS.
|
25541999 |
2014 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
Over the past few years, large-scale genomic studies of patients with myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) have unveiled recurrent somatic mutations in genes involved in epigenetic regulation (DNMT3A, IDH1/2, TET2, ASXL1, EZH2 and MLL) and the spliceosomal machinery (SF3B1, U2AF1, SRSF2, ZRSR2, SF3A1, PRPF40B, U2AF2, and SF1).
|
23645565 |
2013 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
Mutational analysis of splicing machinery genes SF3B1, U2AF1 and SRSF2 in myelodysplasia and other common tumors.
|
23280334 |
2013 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
GeneticVariation
|
group |
BEFREE |
SRSF2 mutations are associated with shortened overall (OS) and leukemia-free survival (LFS) in both MDS and myelofibrosis.
|
23335386 |
2013 |
MYELODYSPLASTIC SYNDROME
|
0.500 |
Biomarker
|
group |
BEFREE |
Among spliceosome component mutations, those involving SF3B1 are most frequent in myelodysplastic syndromes with ring sideroblasts (MDS-RS; ∼ 75% incidence) and SRSF2 in chronic myelomonocytic leukemia (∼ 28% incidence).
|
22968464 |
2012 |