|
Leukemia, Myelocytic, Acute
|
|
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 |
|
Leukemia, Myelocytic, Acute
|
|
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 |
|
Leukemia, Myelocytic, Acute
|
|
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 |
|
Leukemia, Myelocytic, Acute
|
|
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 |
|
Leukemia, Myelocytic, Acute
|
|
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 |
|
Leukemia, Myelocytic, Acute
|
|
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 |
|
Leukemia, Myelocytic, Acute
|
|
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 |
|
Leukemia, Myelocytic, Acute
|
|
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 |
|
Leukemia, Myelocytic, Acute
|
|
0.900 |
GeneticVariation
|
CLINVAR |
AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2.
|
20339092 |
2010 |
|
Leukemia, Myelocytic, Acute
|
|
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 |
|
Leukemia, Myelocytic, Acute
|
|
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 |
|
Polycythemia Vera
|
|
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
Leukemia, Myelocytic, Acute
|
|
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a CALR exon 9 indel, 25 (4.0%) carried an MPL (W515) mutation, and 53 (8.6%) had nonmutated JAK2, CALR, and MPL (so-called triple-negative PMF).
|
24986690 |
2014 |
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
CLINVAR |
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
|
19287384 |
2009 |
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
CLINVAR |
V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.
|
16293597 |
2006 |
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Identification of the Val617Phe JAK2 mutation lays the foundation for new approaches to the diagnosis, classification, and treatment of myeloproliferative disorders.
|
15781101 |
2005 |
|
THROMBOCYTHEMIA 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Primary Myelofibrosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
THROMBOCYTHEMIA 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Myeloproliferative disease
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Budd-Chiari Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis.
|
25698270 |
2015 |
|
Budd-Chiari Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients.
|
23980667 |
2014 |
|
Budd-Chiari Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
Clinical features and etiology of Budd-Chiari syndrome in Chinese patients: a single-center study.
|
23425079 |
2013 |