|
MYELODYSPLASTIC SYNDROME
|
0.800 |
Biomarker
|
group |
CTD_human |
|
|
|
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
CausalMutation
|
group |
CGI |
|
|
|
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
Biomarker
|
group |
HPO |
|
|
|
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Follow-up revealed SF3B1 mutations in 72 of 354 patients (20%) with myelodysplastic syndromes, with particularly high frequency among patients whose disease was characterized by ring sideroblasts (53 of 82 [65%]).
|
21995386 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Furthermore, SF3B1 mutations are independent predictors of favorable clinical outcome, and their incorporation into stratification systems might improve risk assessment in MDS.
|
21998214 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value.
|
22096241 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
Biomarker
|
group |
BEFREE |
U2AF1 is frequently mutated in myeloid hematopoietic malignancies, especially in myelodysplastic syndrome (MDS), and SF3B1 is frequently mutated in both MDS and chronic lymphocytic leukemia (CLL).
|
22200771 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
SF3B1 mutations are prevalent in low-risk MDS with ring sideroblasts, whereas U2AF1 and SRSF2 mutations are frequent in chronic myelomonocytic leukemia and advanced forms of MDS.
|
22323480 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Genotype-phenotype associations have been demonstrated for one of these mutations, SF3B1, with ring sideroblasts in MDS and 11q22 deletions in CLL.
|
22484420 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
RNA-sequencing analysis of SF3B1 mutants showed differentially used genes relevant in MDS pathogenesis, such as ASXL1, CBL, EZH, and RUNX families.
|
22826563 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
They indicate a similar favorable impact of SF3B1 mutation on survival in Chinese with MDS as reported for persons of European descent.
|
22921018 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
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 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
A flurry of recent reports has revealed that genes encoding splicing factors, including the drug target splicing factor 3B subunit 1 (SF3B1), are among the most highly mutated in various haematological malignancies such as chronic lymphocytic leukaemia and myelodysplastic syndromes.
|
23123942 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
In 2011, whole-exome sequencing studies showed recurrent somatic mutations of SF3B1 and other genes of the RNA splicing machinery in patients with myelodysplastic syndrome or myelodysplastic/myeloproliferative neoplasm.
|
23160465 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
Biomarker
|
group |
BEFREE |
Recurrent somatic mutations in splicing machinery components, including SF3B1, U2AF1 and SRSF2 genes have recently been reported in myelodysplastic syndromes (MDS).
|
23280334 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Inappropriately low hepcidin levels in patients with myelodysplastic syndrome carrying a somatic mutation of SF3B1.
|
23300182 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Genotype-phenotype correlations have been observed, including the clustering of ring sideroblasts with SF3B1 mutations in MDS.
|
23327988 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
SF3B1 mutations are most frequent (~80%) in myelodysplastic syndromes (MDS) with ring sideroblasts (RS) but lack prognostic relevance.
|
23335386 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Further, SF3B1 mutations were more frequently recurrent in the 33% of patients with MDS characterized with RS, whereas in other subtypes of MDS, only 2.3% of patients were detected with SF3B1 mutations (p=0.006).
|
23390883 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Another significant advance in MDS pathogenesis research is the recent identification of mutations in genes encoding transcription factors implicated in hematopoiesis and proteins involved in splicing (SF3B1), methylation (DNMT3A), regulation of methylation (TET2 and IDH), DNA conformation (EZH2 and ASXL1) and differentiation (N- and K-RAS).
|
23394086 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Somatic mutations of SF3B1 gene have recently been identified in myelodysplastic syndrome and chronic lymphocytic leukemia.
|
23395771 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
GeneticVariation
|
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
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Clinical significance of SF3B1 mutations in Korean patients with myelodysplastic syndromes and myelodysplasia/myeloproliferative neoplasms with ring sideroblasts.
|
24141330 |
2014 |
|
MYELODYSPLASTIC SYNDROME
|
0.800 |
Biomarker
|
group |
BEFREE |
The close relationship between SF3B1 mutation and ring sideroblasts is consistent with a causal relationship, and makes SF3B1 the first gene to be associated with a specific morphological feature in MDS.
|
24507814 |
2013 |