|
Thrombocythemia, Essential
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Most recently, ASXL1, SRSF2, and IDH2 mutations have been associated with inferior overall, leukemia-free or fibrosis-free survival in PV; similarly adverse mutations in ET included SH2B3, SF3B1, U2AF1, TP53, IDH2, and EZH2.
|
27991718 |
2017 |
|
Thrombocythemia, Essential
|
0.060 |
Biomarker
|
disease |
BEFREE |
Contrarily, DNA methylation genes (DNMT3A, IDH1, IDH2 and TET2) were mutated most often in PV (0·5) and less frequently in ET (0·23) and PMF (0·20), but without reaching statistical significance.
|
27447873 |
2016 |
|
Thrombocythemia, Essential
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Of the five interrogated subclonal mutations (ASXL1, EZH2, SRSF2, IDH1, and IDH2), that comprise a prognostically detrimental high molecular risk (HMR) category in PMF, only SRSF2 mutations were associated with reduced survival in PET-MF, and no additional mutation profile with prognostic relevance was highlighted.
|
27037840 |
2016 |
|
Thrombocythemia, Essential
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations.
|
21904853 |
2012 |
|
Thrombocythemia, Essential
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
We investigated a group of pediatric patients diagnosed either with essential thrombocythemia (ET; N = 9) or polycythemia vera (PV; N = 4) according to WHO criteria (median age = 10 years; range 1.5-15 years) in whom direct sequencing was performed for the existence of genetic alterations in JAK2, MPL, TET2, ASXL1, CBL, IDH1, and IDH2.
|
22106054 |
2012 |
|
Thrombocythemia, Essential
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
A total of 38 IDH mutations (18 IDH1-R132, 19 IDH2-R140 and 1 IDH2-R172) were detected: 5 (0.8%) ET, 8 (1.9%) PV, 13 (4.2%) PMF, 1 (1%) post-PV/ET MF and 11 (21.6%) blast-phase MPN (P<0.01).
|
20508616 |
2010 |