Juvenile Myelomonocytic Leukemia
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
GeneticVariation
|
disease |
BEFREE |
We studied 71 children, including 28 with bone marrow monosomy 7 syndrome (Mo7), 35with juvenile chronic myelogenous leukemia (JCML), three with other forms of preleukemia, and five with acute myelogenous leukemia (AML), for activating mutations of KRAS and NRAS.
|
7949098 |
1994 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that N-ras gene mutations may be involved in the pathogenesis and/or prognosis of JCML and provide further evidence that JCML is an entity distinct from CML.
|
8161790 |
1994 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Juvenile myelomonocytic leukemia and Noonan syndrome.
|
10598665 |
2000 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Hyperactive Ras in developmental disorders and cancer.
|
17384584 |
2007 |
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 |
Biomarker
|
disease |
BEFREE |
We assessed 71 children with JMML for NRAS, KRAS, and PTPN11 mutations and evaluated their clinical significance.
|
19047918 |
2009 |
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 |
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 |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We report the case of a child with a diagnosis of JMML carrying two mutations of NRAS gene (c.37G>C and c.38G>A) independently occurring in long-term culture initiating cells.
|
22183880 |
2012 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
SomaticCausalMutation
|
disease |
ORPHANET |
The clinical course of these patients suggests that NRAS mosaicism may be associated with a mild disease phenotype in JMML.
|
22753870 |
2012 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
The clinical course of these patients suggests that NRAS mosaicism may be associated with a mild disease phenotype in JMML.
|
22753870 |
2012 |
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 |
SHP2, NF-1, KRAS, and NRAS are mutated in JMML patients, leading to aberrant regulation of RAS signaling.
|
23696637 |
2013 |