rs77375493
|
|
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 |
rs77375493
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
GeneticVariation
|
CLINVAR |
AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2.
|
20339092 |
2010 |
rs77375493
|
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
GeneticVariation
|
CLINVAR |
The incidence of the JAK2 V617F mutation in each patient group was as follows: 8.3% (1/12), MDS; 22.2% (2/9), MDS/MPN-U; 14.3% (1/7), RARS-T; and 13.3%, (2/15) AML.
|
21120162 |
2010 |
rs77375493
|
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
GeneticVariation
|
CLINVAR |
A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications.
|
20631743 |
2010 |
rs77375493
|
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
rs121912472
|
|
Leukemia, Myelocytic, Acute
|
C |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
rs121913487
|
|
Leukemia, Myelocytic, Acute
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
rs121913487
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
rs121913487
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutational landscape of AML with normal cytogenetics: biological and clinical implications.
|
23261068 |
2013 |
rs121913487
|
|
Leukemia, Myelocytic, Acute
|
C |
0.800 |
CausalMutation
|
CLINVAR |
The importance of relative mutant level for evaluating impact on outcome of KIT, FLT3 and CBL mutations in core-binding factor acute myeloid leukemia.
|
23783394 |
2013 |
rs121913487
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The role of kinase inhibitors in the treatment of patients with acute myeloid leukemia.
|
23714533 |
2013 |
rs121913487
|
|
Leukemia, Myelocytic, Acute
|
C |
0.800 |
CausalMutation
|
CLINVAR |
The role of kinase inhibitors in the treatment of patients with acute myeloid leukemia.
|
23714533 |
2013 |
rs121913487
|
|
Leukemia, Myelocytic, Acute
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Activity of ponatinib against clinically-relevant AC220-resistant kinase domain mutants of FLT3-ITD.
|
23430109 |
2013 |
rs121913487
|
|
Leukemia, Myelocytic, Acute
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Prospective evaluation of gene mutations and minimal residual disease in patients with core binding factor acute myeloid leukemia.
|
23321257 |
2013 |
rs121913487
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The importance of relative mutant level for evaluating impact on outcome of KIT, FLT3 and CBL mutations in core-binding factor acute myeloid leukemia.
|
23783394 |
2013 |
rs121913487
|
|
Leukemia, Myelocytic, Acute
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Mutational landscape of AML with normal cytogenetics: biological and clinical implications.
|
23261068 |
2013 |
rs121913487
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Prospective evaluation of gene mutations and minimal residual disease in patients with core binding factor acute myeloid leukemia.
|
23321257 |
2013 |
rs121913487
|
|
Leukemia, Myelocytic, Acute
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Activity of ponatinib against clinically-relevant AC220-resistant kinase domain mutants of FLT3-ITD.
|
23430109 |
2013 |