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 |
We further evaluated the anti-proliferative potential of GMR CAR T cells on leukemic CD34(+) cells from six patients with JMML (two NRAS mutations, three PTPN11 mutations, and one monosomy 7), and normal CD34(+) cells.
|
26983639 |
2016 |
Juvenile Myelomonocytic Leukemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This case highlights an NRAS mutation in ETP-ALL with JMML-like phenotype.
|
27145535 |
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 |
We recommend that this option be promptly offered to any child with PTPN-11-, K-RAS-, or NF1-mutated JMML and to the majority of those with N-RAS mutations.
|
25564399 |
2015 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
SHP2, NF-1, KRAS, and NRAS are mutated in JMML patients, leading to aberrant regulation of RAS signaling.
|
23696637 |
2013 |
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 |
GeneticVariation
|
disease |
BEFREE |
Among 17 patients with NRAS-mutated JMML, none had clinical features suggestive of NS.
|
22887781 |
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 |
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 |
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 |
A restricted spectrum of NRAS mutations causes Noonan syndrome.
|
19966803 |
2010 |
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 |
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 |
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 |
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.
|
19047918 |
2009 |