|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Considerable effort is being made to understand the role of JAK2(V617F) at the MPN initiation and to clarify the pathogenesis and apoptosis resistance in CML, PV, ET and PMF patients.
|
27282563 |
2016 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia.
|
16001431 |
2005 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Herein, the authors present three cases of CML diagnosed within five years of treatment initiation for Hodgkin's Lymphoma (HL); one of the three patients had CML with atypical variant carrying a rare mutation with BCR-JAK2 fusion.
|
31366526 |
2019 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in the cytoplasmic tyrosine kinase JAK2 (V617F) is key in the pathogenesis of myeloproliferative neoplasms, and translocations involving ABL key in the development of chronic myeloid leukaemia.
|
21722956 |
2011 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
JAK2 mutation was also detected in 3 (19%) of 16 patients with Philadelphia-chromosome (Ph)-negative chronic myelogenous leukemia (CML), 2 (18%) of 11 patients with megakaryocytic AML, 7 (13%) of 52 patients with chronic myelomonocytic leukemia, and 1 (1%) of 68 patients with myelodysplastic syndromes.
|
16037387 |
2005 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We studied samples from 1088 persons with myeloproliferative neoplasms (MPNs) including 421 JAK2(V617F) negative subjects with ET, PMF, polycythemia vera (PV), chronic myeloid leukemia (CML) and hyper-eosinophilic syndrome (HES).
|
25860380 |
2015 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However it is not so easy, because iPSCs from hematological malignancies have been established only from myeloproliferative neoplasms including chronic myelogenous leukemia (CML) and JAK2-V617F mutation-positive polycythemia vera (PV). iPSC technology has great potential to promote oncology research based on patient samples.
|
23807288 |
2013 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17, coinciding with increase in BCR-ABL transcripts, loss of JAK2-V617F and change of clinical phenotype from polycythaemia vera to chronic myeloid leukaemia.
|
21950422 |
2012 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Key genetic aberrations include the BCR-ABL1 gene rearrangement in Philadelphia chromosome-positive chronic myelogenous leukemia (CML) and JAK2/MPL/CALR aberrations in Philadelphia chromosome-negative MPNs.
|
29951914 |
2018 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
LightCycler melting curve analysis was applied to detect risk alleles of TERT rs2736100_C and Janus kinase 2 (JAK2) rs12343867_C tagging 46/1 haplotype in 584 BCR-ABL1-negative MPN, 308 acute, and 86 chronic myeloid leukemia (AML and CML) patients and 400 healthy individuals.
|
26487696 |
2016 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine the requirement for STAT5 in MPNs induced by BCR-ABL1 and JAK2(V617F) in retroviral transplantation models of CML and PV.
|
22234689 |
2012 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Whole-genome analysis reveals unexpected dynamics of mutant subclone development in a patient with JAK2-V617F-positive chronic myeloid leukemia.
|
28602946 |
2017 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations of A300V, V402M, and R415H in LNK were found in 8 patients including ET (4 cases, all combined with JAK2-V617F mutation), PV (2 cases, one combined with JAK2-V617F mutation), PMF (one case, combined with JAK2-V617F mutation) and CML (one case, combined with BCR/ABL1 fusion gene).
|
27111338 |
2016 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
One case of CML developed ET-like morphology and had JAK2 V617F detected while in molecular remission for CML.
|
26754830 |
2016 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The JAK2 V617F mutation is common in patients with Philadelphia-negative chronic myeloproliferative neoplasms, but few cases of the JAK2 V617F mutation have been described in Philadelphia-positive chronic myeloid leukemia (CML) patients.
|
24293258 |
2014 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Previously, BCR-JAK2 rearrangement was observed in a single case with atypical chronic myelogenous leukemia (CML), but in that case the breakpoint in the BCR was different.
|
18503828 |
2008 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, a proportion of wild-type JAK2 non-chronic myelogenous leukemia chronic myeloproliferative disorders cases also demonstrate this abnormal pSTAT5 expression pattern.
|
18479730 |
2008 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We show here that a t(9;12)(p24;p13) in a case of early pre-B acute lymphoid leukemia and a t(9;15;12)(p24;q15;p13) in atypical chronic myelogenous leukemia in transformation involve the ETV6 gene at 12p13 and the JAK2 gene at 9p24.
|
9326218 |
1997 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
And finally, Will the benefits conferred by current or future JAK2(V617F) inhibitors equal or even surpass the clinical success that has resulted from the use of tyrosine kinase inhibitors in CML?
|
19641523 |
2009 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
JAK2V617F, a somatic gain-of-function mutation involving the JAK2 tyrosine kinase gene, occurs in nearly all patients with polycythemia vera (PV) but also in a variable proportion of patients with other myeloid disorders; mutational frequency is estimated at approximately 50% in both essential thrombocythemia (ET) and myelofibrosis (MF), up to 20% in certain subcategories of atypical myeloproliferative disorder (atypical MPD), less than 3% in de novo myelodysplastic syndrome (MDS) or acute myeloid leukemia, and 0% in chronic myeloid leukemia (CML).
|
17124067 |
2006 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive.
|
23846442 |
2013 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
JAK2 mutation was not detected in Ph+ chronic myeloid leukemia (n = 5), acute myeloid leukemia (n = 10), acute lymphoblastic leukemia (n = 10), secondary erythrocytosis (n = 10), or normal bone marrow (n = 10).
|
16645202 |
2006 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The present report describes two chronic myelogenous leukemia (CML) patients with the JAK2-V617F mutation who were in complete hematologic and cytogenetic remission and subsequently developed clinical features of essential thrombocythemia under treatment with tyrosine kinase inhibitors.
|
23613267 |
2013 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81).
|
20538800 |
2010 |
|
Myeloid Leukemia, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia).
|
22847163 |
2012 |