|
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 |
|
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 |
|
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 |
|
rs121912472
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.810 |
GeneticVariation |
UNIPROT |
The JAK2 V617F mutation in de novo acute myelogenous leukemias.
|
16247455 |
2006 |
|
rs121912472
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
|
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 |
|
rs1392759936
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation |
BEFREE |
We conclude that the AA and GG genotypes of JAK2 A830G might be important markers for therapy outcomes of patients with AML in a Chinese population.
|
20536350 |
2010 |
|
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 |
|
rs1479478620
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation |
BEFREE |
Although known activating substitutions were observed in rare cases of acute myeloid leukemia (AML) (V722I [2/134] or P132T [1/119]), all samples were wild-type (WT) for the oncogenic A572V (119/119).
|
21599579 |
2011 |
|
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 |
|
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
|
|
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
|
|
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 |
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
|
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 |
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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
|
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 |
A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease.
|
20153505 |
2010 |
|
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 |
|
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 |
|
rs77375493
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
GeneticVariation |
CLINVAR |
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
|
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 |