|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
These mutations include JAK2, CALR and MPL mutations as the main disease drivers, mutations driving clonal expansion, and mutations that contribute to progression of chronic MPNs to myelodysplasia and acute leukemia.
|
31741139 |
2020 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
AlteredExpression
|
group |
BEFREE |
The mutation prevalence rates of Janus kinase 2 and SH2B adaptor protein 3 were significantly higher in the MDS unclassified group and in the very high-risk groups with a karyotype as a prognostic indicator, respectively (both P<0.05).
|
31612018 |
2019 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The high frequency of myeloproliferative features and JAK2 p.V617F mutation, and the low frequency of p53 dysregulation, suggest that fibrosis in the context of CMML has a different pathogenesis from that previously reported in myelodysplastic syndrome.
|
29596070 |
2018 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
Biomarker
|
group |
BEFREE |
In this report, we discuss the clinical history, pathological evaluation, and genomics findings in a patient with JAK2-positive myelofibrosis who developed a secondary myelodysplasia after hematopoietic stem cell transplantation and JAK1/2 inhibitor treatment.
|
30097215 |
2018 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
Biomarker
|
group |
BEFREE |
Although JAK2 inhibitors are in clinical use for myelodysplastic syndromes, patients often rapidly develop resistance.
|
28478401 |
2017 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
Biomarker
|
group |
BEFREE |
With the advent of next generation sequencing, recurrent somatic mutations in genes involved in epigenetic regulation (TET2, ASXL1, EZH2, DNMT3A, IDH1/2), RNA splicing (SF3B1, SRSF2, U2AF1, ZRSR2), DNA damage response (TP53), transcriptional regulation (RUNX1, BCOR, ETV6) and signal transduction (CBL, NRAS, JAK2) have been identified in MDS.
|
26769228 |
2016 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
RARS-T is characterized by SF3B1 and JAK2 mutations and prognosis is considered to be better than MDS but not as good as MPN.
|
26874914 |
2016 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Here we report a t(9;22)(p24;q11.2) translocation, in a MDS patient and review results associated with BCR-JAK2 fusion reported in the literature.
|
25833723 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Several regulators of signal transduction (NRAS, JAK2) and transcription factors (RUNX1, TP53) are also frequently mutated in MDS.
|
25645650 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Herein, we describe the clinical, morphologic, immunophenotypic, cytogenetic, and molecular genetic findings in two MDS/AML cases that contained both MYC rearrangement and the JAK2 V617F mutation.
|
26382622 |
2015 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Recently published studies report a small percentage of patients with RARS-T. Sixty percent of these have JAK2 V617F mutation, which can suggest the coexistence of two pathological conditions (MDS and MPN).
|
24399021 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Somatic CALR mutations were found in 70 to 84% of samples of myeloproliferative neoplasms with nonmutated JAK2, in 8% of myelodysplasia samples, in occasional samples of other myeloid cancers, and in none of the other cancers.
|
24325359 |
2013 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
Biomarker
|
group |
BEFREE |
We report on a 67-year-old man with the diagnosis of MDS, subtype refractory anemia with ring sideroblasts (RARS), karyotype 20q- , JAK-2 negative and grade III fibrosis on the bone marrow biopsy, who evolved into ALL 33 months after the diagnosis of MDS.
|
22760793 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Because detailed clinical and hematological characteristics of CBL-mutated cases is lacking, we screened 156 BCR-ABL and JAK2 V617F negative patients with myeloproliferative neoplasms (MPN) and overlap syndromes between myelodysplastic syndrome (MDS) and MPN (MPS/MPN) for mutations in exons 8 and 9 of CBL by denaturing high-performance liquid chromatography and direct sequencing.
|
23010802 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
DNA was available in 138 patients and mutation screening revealed 20 cases with JAK2, 6 with IDH, and 3 with MPL mutations; JAK2 and MPL mutations were seen mostly in MPN or "MDS with isolated del(5q)" whereas IDH mutations were frequent in other MDS variants.
|
21523797 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
These results show that hotspot mutations in the PI3K, JAK2, FLT3 and NPM1 genes are not common in MDS patients; nevertheless, JAK2 mutations may be present in myelodysplasia during disease progression.
|
21789382 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Significance of JAK2 and TET2 mutations in myelodysplastic syndromes.
|
20171768 |
2010 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis of the 3q21q26 syndrome, we analyzed bone marrow samples of 12 patients, including 10 patients with acute myeloid leukemia and 2 patients with a myelodysplastic syndrome, associated with either inv(3)(q21;q26) or t(3;3)(q21;q26).
|
20153505 |
2010 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
JAK2(V617F) mutation in myelodysplastic syndrome (MDS) with del(5q) arises in genetically discordant clones.
|
19819015 |
2010 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Although certain molecular defects are indicative of distinct cytogenetic abnormalities, others represent point mutations in critical target genes (RUNX1, N-RAS, JAK2, KIT, others) and sometimes are associated with a particular type of MDS, an overlap disease, a co-existing hematopoietic neoplasm or disease progression.
|
19263296 |
2009 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 patients with myeloproliferative disorders (12%) (with or without the JAK2 V617F mutation), in 5 of 21 patients with secondary AML (24%), and in 2 of 9 patients with chronic myelomonocytic leukemia (22%).
|
19474426 |
2009 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had abnormal megakaryocytic pSTAT5 expression and a MPL W515L mutation.
|
18479730 |
2008 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The JAK2-V617F mutation could be detected in 28 of 33 polycythaemia vera patients (85%), 29 of 49 essential thrombocythaemia patients (59%) and 2 of 6 IMF patients (33%), but was not detected in 11 patients with myelodysplastic syndrome or another 10 with other haematological diseases.
|
18336541 |
2008 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Janus kinase 2 (JAK2)V617F-activating mutations (JAK2mu) occur in myeloproliferative disorders (MPDs) and myelodysplastic syndromes (MDSs).
|
18769447 |
2008 |
|
MYELODYSPLASTIC SYNDROME
|
0.200 |
GeneticVariation
|
group |
LHGDN |
JAK2 V617F and ringed sideroblasts: not necessarily RARS-T.
|
18223181 |
2008 |