rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).
|
22571758 |
2012 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
PVTL-1 cells may provide a valuable model system to elucidate the molecular mechanisms involved in evolution of Jak2-V617F-expressing MPN to AML and to develop novel therapies against this intractable condition.
|
24404189 |
2014 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the test of blind screening of 223 samples (111 Ph- MPNs, 60 Ph+ chronic myeloid leukemia, and 52 acute myeloid leukemia), JAK2 V617F mutations were found in 78 (70%) patients with MPNs, but in none with chronic and acute myeloid leukemia.
|
21786333 |
2011 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
They include the BCR/ABL in CML, the V617F JAK2 in Philadelphia chromosome-negative MPN, and the Flt3 ITD and TKD mutations in AML.
|
20809224 |
2010 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2(V617F)-negative cases showed worsening of such score or evolution to acute myeloid leukemia.
|
26271725 |
2015 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We found the patient to be JAK2-V617F mutation positive throughout the course of disease, while a mutation of the nucleophosmin (NPM1) gene emerged at AML diagnosis and relapse.
|
21689158 |
2011 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
V617F was not identified in patients with systemic mastocytosis (n = 28), chronic or acute myeloid leukemia (n = 35), secondary erythrocytosis (n = 4), or healthy controls (n = 160).
|
15920007 |
2005 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
These observations of our case raise two possibilities: either transient posttreatment thrombocythemia is a feature of AML with JAK2 V617F mutation, or this was a case of secondary AML.
|
29979407 |
2018 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease.
|
20153505 |
2010 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
These findings in this largest study of JAK2 V617F-mutated AMLs indicate that AML-DN is distinct from AML-MPN.
|
29767839 |
2018 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A JAK2 variant in addition to JAK2 V617F (n = 13) in myelofibrosis was associated with an increased cumulative risk of transformation into AML (P = .003).
|
30811597 |
2019 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We conclude that JAK2-V617F-positive MPD frequently yields JAK2-V617F-negative AML</span>, and transformation of a common JAK2-V617F-negative ancestor represents a possible mechanism.
|
17363731 |
2007 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Janus kinase2 V617F</span> was present in 13/162 AML samples (8%): 10/13 transformed MPD, and three apparent de novo AML (one of 12 AML-M6, one of 24 AML-M7, and one AML-M2 - all mixed clonality).
|
16598306 |
2006 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML).
|
18030353 |
2007 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
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 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2(V617F) was identified in patients previously diagnosed with a myeloproliferative disorder or acute myeloid leukemia transformed from myeloproliferative disorder, whereas a wild-type genotype was identified in patients with reactive conditions or de novo acute myeloid leukemia.
|
16831057 |
2006 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders.
|
16247455 |
2006 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The V617F mutation is present in blood and marrow from a large proportion of patients with classic BCR/ABL-negative chronic myeloproliferative disorders and of a few patients with other clonal hematological diseases such as myelodysplastic syndrome, atypical myeloproliferative disorders, and acute myeloid leukemia.
|
16931578 |
2006 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
As his complete blood count included a few myeloid blasts (1% of WBC) and a bone marrow biopsy detected fibrosis without evidence of acute myelogenous leukemia (AML), a diagnosis of extramedullary blastic transformation of PMF was made, which was confirmed later by V617F mutation in Janus kinase-2 in both initial bone marrow biopsy and axillary tumor biopsy specimens.
|
22612514 |
2012 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We screened 79 acute myeloid leukemia (AML) cell lines and found five positive for JAK2 V617F (HEL, MB-02, MUTZ-8, SET-2, UKE-1), 4/5 with histories of MPD/MDS.
|
16408098 |
2006 |
rs77375493
|
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2 V617F mutations clustered in AML samples with an aberrant karyotype (p<0.05).
|
17229652 |
2007 |
rs121912472
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Thus our studies provide clues in understanding the leukemogenesis of JAK2 K607N mutation in AML.
|
30521925 |
2019 |
rs147001633
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Quantitative detection of DNMT3A R882H mutations at different time points of AML</span> disease enables screening of follow-up samples.
|
25994761 |
2015 |
rs147001633
|
|
|
0.800 |
GeneticVariation |
BEFREE |
DNMT3A R882H, a frequent mutation in acute myeloid leukemia (AML), plays a critical role in malignant hematopoiesis.
|
31703632 |
2019 |
rs147001633
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The DNMT3A R882H mutation is frequently observed in acute myeloid leukemia (AML).
|
29518238 |
2018 |