Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Juvenile Myelomonocytic Leukemia
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
Juvenile Myelomonocytic Leukemia
|
0.800 |
SusceptibilityMutation
|
disease |
ORPHANET |
Juvenile myelomonocytic leukemia (JMML) is an intractable pediatric leukemia with poor prognosis whose molecular pathogenesis is poorly understood, except for somatic or germline mutations of RAS pathway genes, including PTPN11, NF1, NRAS, KRAS and CBL, in the majority of cases.
|
23832011 |
2013 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Juvenile myelomonocytic leukemia (JMML) is an intractable pediatric leukemia with poor prognosis whose molecular pathogenesis is poorly understood, except for somatic or germline mutations of RAS pathway genes, including PTPN11, NF1, NRAS, KRAS and CBL, in the majority of cases.
|
23832011 |
2013 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CBL mutations were screened in 65 patients with JMML.
|
20543203 |
2010 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML).
|
22138511 |
2012 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CBL mutation and MEFV single-nucleotide variant are important genetic predictors of tumor reduction in glucocorticoid-treated patients with chronic myelomonocytic leukemia.
|
29600428 |
2018 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A subset of JMML patients harbor CBL mutations associated with 11q acquired uniparental disomy.
|
23696637 |
2013 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
By comparison, our screening of juvenile myelomonocytic leukemia cases showed mutations in ASXL1 (4%), CBL (10%), and RAS (6%) but not in IDH1/2, TET2, EZH2, DNMT3A or the three spliceosomal genes.
|
22773603 |
2013 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
During complete remission of the AML, in the presence of normal blood counts, the hematopoiesis stably maintained the homozygous CBL mutation, which is reminiscent of the situation in children with CBL syndrome and transient juvenile myelomonocytic leukemia.
|
24493670 |
2014 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.
|
21901340 |
2012 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
Biomarker
|
disease |
CTD_human |
Genetic disruption of the PI3K regulatory subunits, p85α, p55α, and p50α, normalizes mutant PTPN11-induced hypersensitivity to GM-CSF.
|
22315502 |
2012 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.
|
20955399 |
2010 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
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 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline pathogenic variants in CBL are associated with an autosomal dominant RASopathy and an increased risk for malignancies, particularly juvenile myelomonocytic leukemia.
|
30803559 |
2019 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, no mutations in the PTPN11, RAS, and CBL genes, or clinical features of neurofibromatosis type 1, which are associated with JMML, were detected.
|
22736231 |
2012 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
Biomarker
|
disease |
CTD_human |
Importantly, JMML specimens from affected children show loss of the normal CBL allele through acquired isodisomy.
|
20694012 |
2010 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Importantly, JMML specimens from affected children show loss of the normal CBL allele through acquired isodisomy.
|
20694012 |
2010 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
|
19571318 |
2009 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CBL were found exclusively in overt chronic myelomonocytic leukemia.
|
28548124 |
2017 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
|
19571318 |
2009 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in NF1, PTPN11, NRAS, KRAS and CBL have been reported to play a pathogenetic role in juvenile myelomonocytic leukaemia (JMML), a rare myelodyplastic/myeloproliferative neoplasm occurring in children.
|
20408841 |
2010 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, germline mutations in the Casitas B-cell lymphoma (CBL) gene were reported in 25 patients and of these, 20 had juvenile myelomonocytic leukemia (JMML).
|
25358541 |
2015 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Somatic mutations in genes involved in GM-CSF signal transduction, such as NRAS, KRAS, PTPN11, NF1, and CBL, have been identified in more than 70% of children with JMML.
|
22753870 |
2012 |