|
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML).
|
16537803 |
2006 |
|
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
We conclude that besides morphology of megakaryocytes and other features, JAK2 V617F allelic burden can help differentiate CMML from PMF with monocytosis.
|
30447300 |
2019 |
|
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In summary, unlike typical CMML, CMML-F is commonly associated with JAK2 p.V617F.
|
29596070 |
2018 |
|
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML.
|
15860661 |
2005 |
|
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The results indicate that JAK2(V617F) mutation is associated with clinical and morphological features of the myeloproliferative type of CMML.
|
19734476 |
2009 |
|
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Moreover, one of the progressed patients harbored the FLT3-ITD and two MP-CMML patients presented with the JAK2 V617F substitution.
|
20371679 |
2010 |
|
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were not acquired, and only 1 (6%) of 17 evaluable cases showed cytogenetic progression.
|
17050076 |
2006 |
|
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
JAK2 V617F mutation was detected after transformation to CMML in 1 of them; in the other, a novel translocation t(5;12)(p13;q24) was observed at the time of progression to acute leukemia.
|
21658659 |
2011 |
|
rs1057519710
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A variant c-KIT mutation, D816H, fundamental to the sequential development of an ovarian mixed germ cell tumor and systemic mastocytosis with chronic myelomonocytic leukemia.
|
27781377 |
2017 |
|
rs121913237
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using a bone marrow transplant model, we previously showed that ∼ 95% of animals receiving Nras G12D/+ bone marrow cells develop chronic myelomonocytic leukemia (CMML), while ∼ 8% of recipients develop acute T-cell lymphoblastic leukemia/lymphoma [TALL] (TALL-het).
|
21586752 |
2011 |
|
rs121913506
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A variant c-KIT mutation, D816H, fundamental to the sequential development of an ovarian mixed germ cell tumor and systemic mastocytosis with chronic myelomonocytic leukemia.
|
27781377 |
2017 |
|
rs121913507
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Quantitative mutation analysis showed higher levels of mutant KIT D816V in SM-CMML and SM-MDS than in pure SM (P < 0.001).
|
23440662 |
2013 |
|
rs121913530
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These revealed a KRAS (p.G12R) mutation identical to that seen in the CMML 3 years prior, establishing a clonal relationship between the 2 processes.
|
28885734 |
2017 |
|
rs121913682
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Quantitative mutation analysis showed higher levels of mutant KIT D816V in SM-CMML and SM-MDS than in pure SM (P < 0.001).
|
23440662 |
2013 |
|
rs1464681682
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study of 226 patients with chronic myelomonocytic leukemia (CMML), mutational frequencies were 40% for SRSF2 (all affecting P95), 6% for SF3B1 (primarily K700E) and 9% for U2AF35 (mostly S34F and Q157P/R).
|
23335386 |
2013 |
|
rs371246226
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study of 226 patients with chronic myelomonocytic leukemia (CMML), mutational frequencies were 40% for SRSF2 (all affecting P95), 6% for SF3B1 (primarily K700E) and 9% for U2AF35 (mostly S34F and Q157P/R).
|
23335386 |
2013 |
|
rs371769427
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study of 226 patients with chronic myelomonocytic leukemia (CMML), mutational frequencies were 40% for SRSF2 (all affecting P95), 6% for SF3B1 (primarily K700E) and 9% for U2AF35 (mostly S34F and Q157P/R).
|
23335386 |
2013 |
|
rs559063155
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study of 226 patients with chronic myelomonocytic leukemia (CMML), mutational frequencies were 40% for SRSF2 (all affecting P95), 6% for SF3B1 (primarily K700E) and 9% for U2AF35 (mostly S34F and Q157P/R).
|
23335386 |
2013 |
|
rs587779821
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Quantitative mutation analysis showed higher levels of mutant KIT D816V in SM-CMML and SM-MDS than in pure SM (P < 0.001).
|
23440662 |
2013 |
|
rs61752717
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report on a familial Mediterranean fever (FMF) patient homozygous for p.M694V in the MEFV gene who developed chronic myelomonocytic leukemia (CMML) leading to an uncontrolled and fatal inflammatory syndrome.
|
26076658 |
2015 |
|
rs114619974
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs116519313
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs1283441077
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs1316795626
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs1406914931
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|