|
rs1057520016
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation |
BEFREE |
This study provides clues in understanding structural basis of T875N mutation caused JAK2 hyperactivation and its roles in the pathology of AML.
|
31299252 |
2019 |
|
rs77375493
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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 |
|
rs142269166
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation |
BEFREE |
Detected variants occurred at higher than expected frequencies in patients with MPNs and AML in comparison with the population, and N1108S had a significantly increased prevalence in patients with AML.
|
30811597 |
2019 |
|
rs121912472
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.810 |
GeneticVariation |
BEFREE |
Thus our studies provide clues in understanding the leukemogenesis of JAK2 K607N mutation in AML.
|
30521925 |
2019 |
|
rs77375493
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2(V617F)-negative cases showed worsening of such score or evolution to acute myeloid leukemia.
|
26271725 |
2015 |
|
rs77375493
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
GeneticVariation |
CLINVAR |
Here we report establishment of a new leukemia cell line, PVTL-1, homozygous for JAK2-V617F from a 73-year-old female patient with acute myeloid leukemia (AML) transformed from MPN.
|
24404189 |
2014 |
|
rs121912472
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.810 |
GeneticVariation |
UNIPROT |
Acute myeloblastic leukaemias in adult patients: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up.
|
23970018 |
2013 |
|
rs77375493
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
GeneticVariation |
CLINVAR |
Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German-Austrian AML Study Group (AMLSG).
|
23115274 |
2013 |
|
rs77375493
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
GeneticVariation |
CLINVAR |
The synergy translated in vivo in two different AML models, the SET-2 megakaryoblastic AML mouse model carrying a JAK2(V617F) mutation, and the MOLM-13 model of FLT3-ITD-driven AML.
|
22829971 |
2012 |
|
rs77375493
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
GeneticVariation |
CLINVAR |
Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications.
|
22818858 |
2013 |
|
rs77375493
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
GeneticVariation |
CLINVAR |
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
GeneticVariation |
CLINVAR |
Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia.
|
22422826 |
2012 |
|
rs2230724
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, A allele of rs2230724 should be an important genetic determinant for acute leukemia and AML.
|
22168550 |
2012 |
|
rs56118985
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation |
BEFREE |
The distributions of rs56118985 GA genotype in the acute leukemia and acute myeloid leukemia (AML) groups were both slightly different when compared with the control group (P = 0.049 and P = 0.045).
|
22168550 |
2012 |
|
rs121912472
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.810 |
GeneticVariation |
UNIPROT |
NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology.
|
22138009 |
2011 |
|
rs77375493
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
GeneticVariation |
CLINVAR |
This report describes the first case of myeloid sarcoma with JAK2 V617F mutation and implication of its progression to AML.
|
22041374 |
2011 |
|
rs12343867
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation |
BEFREE |
Janus kinase 2 rs12343867 single nucleotide polymorphism tagging the 46/1 haplotype was genotyped by LightCycler technology applying melting curve analysis with the hybridization probe detection format in 176 patients with acute myeloid leukemia under 60 years diagnosed consecutively and treated with curative intent.
|
21791467 |
2011 |
|
rs77375493
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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 |