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 |
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 |
Trio whole-exome sequencing (WES) identified a pathogenic de novo heterozygous germline CBL variant (c.1111T > C, p.Y371H), previously reported to cause CBL syndrome and implicated in development of juvenile myelomonocytic leukemia (JMML).
|
28414188 |
2017 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Unraveling the genetics of JMML has demonstrated that JMML in patients with germ line PTPN11 and CBL mutations often regresses spontaneously, and therapy is seldom indicated.
|
27913534 |
2016 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We think that some JMML patients with CBL mutation might show the good prognosis in later life after remission of JMML.
|
26911351 |
2016 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
Biomarker
|
disease |
CTD_human |
The genomic landscape of juvenile myelomonocytic leukemia.
|
26457647 |
2015 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The penetrance of the CBL Y371C mutation was 30% for JMML and 40% for all leukemia.
|
25939664 |
2015 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We screened 45 patients with chronic myelomonocytic leukemia (n = 39 patients, including seven with transformed-acute myeloid leukemia), MDS/MPN unclassifiable (n = 5), and atypical BCR-ABL1-negative CML (n = 1) for mutations in ASXL1, CBL, NRAS, and TET2 genes by molecular genetics including a sensitive next-generation sequencing (NGS) technique.
|
24164563 |
2014 |
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 |
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 |
A subset of JMML patients harbor CBL mutations associated with 11q acquired uniparental disomy.
|
23696637 |
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 |
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
The pathogenesis of JMML seems to arise from constitutional activation of the GM-CSF/RAS (a GTPase) signaling pathway, a result of mutations in RAS, NF1, PTPN11, and CBL that interfere with downstream components of the pathway.
|
22480363 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Therefore, CBL(mut) are frequent in chronic myelomonocytic leukemia, absent in classical myeloproliferative neoplasms, and are only exceptionally found in coincidence with JAK-STAT pathway activating mutations.
|
22733026 |
2012 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This review outlines our understanding of the genetic underpinnings of JMML with a recent update on the discovery of novel CBL mutations, as well as a brief review on current therapeutic approaches.
|
21623760 |
2011 |