Juvenile Myelomonocytic Leukemia
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Juvenile Myelomonocytic Leukemia (JMML) is a relentlessly progressive myeloproliferative/myelodysplastic (MPD/MDS) hematopoietic disorder more common in patients with any one of at least three distinct genetic lesions, specifically NF1 gene loss and PTPN11 and NRAS mutations.
|
21681782 |
2011 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
SomaticCausalMutation
|
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 |
A mutation within NRAS codon 12 could thus be demonstrated in a patient with idiopathic myelofibrosis and in another with chronic myelomonocytic leukemia.
|
3122217 |
1987 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Acquisition of loss of the wild-type NRAS locus with aggressive disease progression in a patient with juvenile myelomonocytic leukemia and a heterozygous NRAS mutation.
|
18024411 |
2007 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among 17 patients with NRAS-mutated JMML, none had clinical features suggestive of NS.
|
22887781 |
2012 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Concurrent juvenile myelomonocytic leukemia and T-lymphoblastic lymphoma with a shared missense mutation in NRAS.
|
24610751 |
2014 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Control of thrombotic thrombocytopenic purpura by sirolimus in a child with juvenile myelomonocytic leukemia and somatic N-RAS mutation.
|
24590757 |
2014 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.
|
19047918 |
2009 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we identified 4 (18.2%) NRAS mutations and 1 (4.5%) KRAS mutation in 5 JMML samples, 1 of which had a concomitant PTPN11 mutation.
|
16518851 |
2006 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function variants in some RAS-MAPK pathway genes, including PTPN11 and NRAS, are associated with RASopathies and/or acquired hematological malignancies, most notably juvenile myelomonocytic leukemia (JMML).
|
28098151 |
2017 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia.
|
19775298 |
2009 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
Biomarker
|
disease |
CTD_human |
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia.
|
19775298 |
2009 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Hyperactive Ras in developmental disorders and cancer.
|
17384584 |
2007 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Juvenile myelomonocytic leukemia and Noonan syndrome.
|
10598665 |
2000 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
SomaticCausalMutation
|
disease |
ORPHANET |
Molecular basis of juvenile myelomonocytic leukemia.
|
20139388 |
2010 |
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 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.
|
16518851 |
2006 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neither of affected individuals in this family presented with juvenile myelomonocytic leukemia (JMML), which together with previously published results suggest that the risk for NS individuals with a germline NRAS mutation developing JMML is not different from the proportion seen in other NS cases.
|
26467218 |
2015 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Of 11 children with juvenile myelomonocytic leukemia (JMML) carrying RAS mutations (8 with NRAS mutations, 3 with KRAS2 mutations), 5 had a profound elevation in either or both the white blood cells and spleen size at diagnosis.
|
17332249 |
2007 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Of 11 children with juvenile myelomonocytic leukemia (JMML) carrying RAS mutations (8 with NRAS mutations, 3 with KRAS2 mutations), 5 had a profound elevation in either or both the white blood cells and spleen size at diagnosis.
|
17332249 |
2007 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Of 11 children with juvenile myelomonocytic leukemia (JMML) carrying RAS mutations (8 with NRAS mutations, 3 with KRAS2 mutations), 5 had a profound elevation in either or both the white blood cells and spleen size at diagnosis.
|
17332249 |
2007 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RALD has clinical and laboratory features that overlap with those of juvenile myelomonocytic leukemia (JMML) and chronic myelomonocytic leukemia (CMML), including identical somatic mutations in KRAS or NRAS genes noted in peripheral blood mononuclear cells.
|
25691160 |
2015 |