|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients.
|
16810609 |
2006 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MPN with or without circulating positive clones for JAK2 V617F mutation can occur long after a SVT, identifying at risk patients for new thrombotic events.
|
23916380 |
2013 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MPN driver mutations in genes associated with the JAK-STAT pathway include JAK2 V617F, JAK2 exon 12 mutations and mutations in MPL, CALR, and CSF3R.
|
31778606 |
2020 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
V617F driver mutation of JAK2 is the leading cause of the Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs).
|
29202466 |
2018 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A close relation of the JAK2 V617F mutation to atherothrombotic events has been described, at least in patients with MPN.
|
24265174 |
2014 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A computerized archival search was performed for cases of non-chronic myeloid leukemia (CML) MPNs with available CALR and JAK2 V617F mutational analysis data.
|
27686170 |
2016 |
|
rs121918462
|
|
|
0.040 |
GeneticVariation |
BEFREE |
A definitive genotype-phenotype correlation has not been established, but the T73I mutation seems to predispose to a myeloproliferative disorder.
|
17020470 |
2006 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A molecular fingerprint distinguishes JAK2(V617F)-positive MPN patients without response to HU treatment, with overexpression of JAK2, MAPK14, PIK3CA, and SFK genes.
|
21331593 |
2011 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A multiplex snapback primer system was developed for the simultaneous detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia chromosome- (Ph-) negative myeloproliferative neoplasms (MPNs).
|
24729973 |
2014 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A multiplex snapback primer system was developed for the simultaneous detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia chromosome- (Ph-) negative myeloproliferative neoplasms (MPNs).
|
24729973 |
2014 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A mutation in the JH2 pseudokinase domain of the Janus kinase 2 gene (JAK2 V617F) has been described in chronic myeloproliferative disorders (MPD).
|
16408098 |
2006 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A new MALDI-TOF-based assay for monitoring JAK2 V617F mutation level in patients undergoing allogeneic stem cell transplantation (allo SCT) for classic myeloproliferative disorders (MPD).
|
17698191 |
2008 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A sensitive assay for the JAK2 V617F mutation has the potential to diagnose atypical MPDs in multiple undiagnosed cases of intra-abdominal thrombosis and therefore alter the management and prognosis of these patients.
|
18328792 |
2008 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A single mutation 1849G>T in the JAK2 gene (V617F) has recently been described in classical myeloproliferative disorders (MPD).
|
18528646 |
2008 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandatory in all Mexican mestizo patients with unexplained thrombophilia and that this genetic study should be reserved for special cases, such as patients with thrombosis in uncommon sites or patients with cell counts suggesting the presence of an underlying MPD.
|
18796251 |
2008 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Accordingly, the WHO concept of two distinct entities, ET and prefibrotic IMF, does not seem to fit the model of JAK2-positive ET as part of a biological continuum of JAK2 V617F-positive chronic myeloproliferative disorders.
|
18092959 |
2007 |
|
rs121913616
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders.
|
18669880 |
2008 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders.
|
18669880 |
2008 |
|
rs121918464
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN).
|
27840422 |
2017 |
|
rs562015640
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN).
|
27840422 |
2017 |
|
rs397507510
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN).
|
27840422 |
2017 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Alternatively, other gene mutation(s) have to be found to explain the development of V617F-negative MPD.
|
16901656 |
2007 |
|
rs121912473
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although JAK2V617F is the predominant allele associated with MPNs, other activating Janus kinase 2 (JAK2) alleles (such as K539L, T875N) also have been identified in distinct MPNs.
|
21362419 |
2011 |
|
rs1057520016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although JAK2V617F is the predominant allele associated with MPNs, other activating Janus kinase 2 (JAK2) alleles (such as K539L, T875N) also have been identified in distinct MPNs.
|
21362419 |
2011 |