|
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We also examined the effects of these inhibitors in vitro and in vivo on cells expressing mutations in c-CBL found in AML that result in hypersensitization of RTKs, such as FLT3 and KIT.
|
31309543 |
2019 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
CBL depletion by shRNA also promotes the growth of AML1-ETO cells, demonstrating the inhibitory function of endogenous CBL in t(8;21) AML.
|
26449661 |
2016 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe the development of acute myeloid leukemia (AML) in an adult with CBL syndrome caused by a heterozygous de novo germline mutation in CBL codon D390.
|
24493670 |
2014 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recently, mutations in the Casitas B lineage lymphoma (CBL) gene were reported to be involved in RAS-pathway activation in various myeloid malignancies, but their role in paediatric AML is still unknown.
|
23025505 |
2012 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We developed a new combination of high-resolution melting assays on a LightCycler 480 and direct sequencing to detect somatic mutations of ASXL1 (exon 12), IDH1 (exon 4), IDH2 (exon 4), and c-CBL (exons 8 and 9) genes to know their incidence and prognostic effect in a cohort of 175 patients with de novo AML: 16 patients (9%) carried ASXL1 mutations, 16 patients had IDH variations (3% with IDH1(R132) and 6% with IDH2(R140)), and none had c-CBL mutations.
|
22929312 |
2012 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A high occurrence of acquisition and/or expansion of C-CBL mutant clones in the progression of high-risk myelodysplastic syndrome to acute myeloid leukemia.
|
22131879 |
2011 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We identified four novel CBL mutations, including a point mutation (Y371H) and a putative splice site mutation in AML specimens.
|
20622007 |
2010 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Clonal selection of 11q CN-LOH and CBL gene mutation in a serially studied patient during MDS progression to AML.
|
20674974 |
2010 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
The cDNA of 300 acute myeloid leukemia (AML)/myelodysplastic syndrome (MDS) and acute lymphoblastic leukemia (ALL) patients and 82 human leukemic cell lines was screened for aberrations in the linker and RING finger domain of CBL.
|
19276253 |
2009 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
In summary, novel mutations in c-CBL and CBL-b have been identified in human AML and may represent potential targets for novel therapeutics.
|
17475912 |
2007 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In summary, novel mutations in c-CBL and CBL-b have been identified in human AML and may represent potential targets for novel therapeutics.
|
17475912 |
2007 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
Biomarker
|
disease |
BEFREE |
Identification of CBL, a proto-oncogene at 11q23.3, as a novel MLL fusion partner in a patient with de novo acute myeloid leukemia.
|
12696071 |
2003 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Identification of CBL, a proto-oncogene at 11q23.3, as a novel MLL fusion partner in a patient with de novo acute myeloid leukemia.
|
12696071 |
2003 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, an association was found between the AML-M2 subtype and lower expression of CBL, CSF1R or HOXA9, and between the AML-M5 subtype and CBL or CSF1R overexpression.
|
14738146 |
2003 |
|
Leukemia, Myelocytic, Acute
|
0.500 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Noonan Syndrome
|
0.460 |
Biomarker
|
disease |
BEFREE |
Here we report that two JMML patients survived >20 years without HSCT and both patients had uniparental disomy of 11q23 where CBL is located without the phenomenon found in neither Noonan syndrome nor Noonan syndrome-like disorder.
|
26911351 |
2016 |
|
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Most cases of Noonan syndrome (NS) result from mutations in one of the RAS-MAPK signaling genes, including PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 (MAP2K1), and CBL.
|
26286251 |
2015 |
|
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
CBL mutation scanning performed on 349 affected subjects with features overlapping NS and no mutation in NS genes allowed the identification of five different variants with pathological significance.
|
25952305 |
2015 |
|
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.
|
25283271 |
2015 |
|
Noonan Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.
|
25358541 |
2015 |
|
Noonan Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
|
25952305 |
2015 |
|
Noonan Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Since we detected enhanced ERK phosphorylation in cells expressing mutant CBL, we conclude that aberrant EGFR trafficking contributes to augmented RAS-MAPK signaling, the common trait of Noonan syndrome and related RASopathies.
|
25178484 |
2014 |
|
Noonan Syndrome
|
0.460 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The RASopathies.
|
23875798 |
2013 |