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 |
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
|
|
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
|
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 |
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 |
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
|
|
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
|
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
|
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 |
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 |
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 |
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 |
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 |
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
|
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 |
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 |
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
|
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
|
|
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 |
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
|
|
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
|
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 |
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 |