rs77375493
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
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 |
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.900 |
GeneticVariation |
UNIPROT |
None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders.
|
16247455 |
2006 |
rs77375493
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.900 |
GeneticVariation |
BEFREE |
None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders.
|
16247455 |
2006 |
rs77375493
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
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
|
JAK2;INSL6
|
Leukemia, Myelocytic, Acute
|
|
0.900 |
GeneticVariation |
BEFREE |
JAK2 V617F mutations clustered in AML samples with an aberrant karyotype (p<0.05).
|
17229652 |
2007 |
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 |
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 |
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
|
JAK2;INSL6
|
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
|
JAK2;INSL6
|
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
|
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 |
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 |
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 |
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 |
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 |
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 |