Chronic myeloproliferative disorder
|
0.100 |
Biomarker
|
disease |
BEFREE |
Some other genes' location such as TET oncogene family member 2 (TET2), additional sex combs-like 1 (ASXL1), casitas B-lineage lymphoma proto-oncogene (CBL), isocitrate dehydrogenase 1/2 (IDH1/IDH2), IKAROS family zinc finger 1 (IKZF1), DNA methyltransferase 3A (DNMT3A), suppressor of cytokine signaling (SOCS), enhancer of zeste homolog 2 (EZH2), tumor protein p53 (TP53), runt-related transcription factor 1 (RUNX1) and high mobility group AT-hook 2 (HMGA2) have also identified to be involved in MPNs phenotypes.
|
26697989 |
2016 |
Chronic myeloproliferative disorder
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, the role of Cbl proteins in hematopoietic stem cell (HSC) homeostasis, especially in the context of MPD is unclear.
|
25871390 |
2015 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The causal mutation was located by positional cloning in the c-cbl gene, the human ortholog of which, c-CBL, is found frequently mutated in myeloproliferative neoplasms (MPN) or acute leukemia.
|
26104663 |
2015 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132), IDH2 (R140 and R172), and c-CBL (exons 8 and 9) in 62 MPN patients (52 essential thrombocythemia (ET), five polycythemia vera (PV), and five primary myelofibrosis (PMF)) negative for both JAK2 (V617F and exon 12) and MPL (exon 10) mutations.
|
21904853 |
2012 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Because detailed clinical and hematological characteristics of CBL-mutated cases is lacking, we screened 156 BCR-ABL and JAK2 V617F negative patients with myeloproliferative neoplasms (MPN) and overlap syndromes between myelodysplastic syndrome (MDS) and MPN (MPS/MPN) for mutations in exons 8 and 9 of CBL by denaturing high-performance liquid chromatography and direct sequencing.
|
23010802 |
2012 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CBL mutations were identified in suspected chronic myelomonocytic leukemia (13.9%), primary myelofibrosis (8.0%), and not further classifiable myeloproliferative neoplasm (7.0%).
|
22511494 |
2012 |
Chronic myeloproliferative disorder
|
0.100 |
Biomarker
|
disease |
BEFREE |
Other mutation events as MPL, TET2, LNK, EZH2 have been described in chronic phase, while NF1, IDH1, IDH2, ASX1, CBL and Ikaros in blast phase of MPN.
|
21646683 |
2011 |
Chronic myeloproliferative disorder
|
0.100 |
Biomarker
|
disease |
BEFREE |
Beginning in early 2005, a number of novel mutations involving Janus kinase 2 (JAK2), Myeloproliferative Leukemia Virus (MPL), TET oncogene family member 2 (TET2), Additional Sex Combs-Like 1 (ASXL1), Casitas B-lineage lymphoma proto-oncogene (CBL), Isocitrate dehydrogenase (IDH) and IKAROS family zinc finger 1 (IKZF1) have been described in BCR-ABL1-negative MPNs.
|
20428194 |
2010 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In 4 patients, mutations in TP53, CBL, or TET2 were present in JAK2 wild-type leukemic blasts but absent from the JAK2-mutant MPN.
|
20008300 |
2010 |
Chronic myeloproliferative disorder
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
In summary, methylation of TET2, CBL and CEBPA is infrequent in MPN at diagnosis.
|
20671051 |
2010 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that acquired, transforming CBL mutations are a novel and widespread pathogenetic abnormality in morphologically related, clinically aggressive MPNs.
|
19387008 |
2009 |