|
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
CTD_human |
Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.
|
26457648 |
2015 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We diagnosed a patient with NF1 at 25 months of age, before any cutaneous stigmata of this disease had appeared, because we decided to screen for the NF1 gene mutation because of his presentation with multiple JXGs and moderate macrocephaly (2.5 standard deviations) at 9 months of age and JMML diagnosed at 20 months of age.
|
25516272 |
2015 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
CTD_human |
The genomic landscape of juvenile myelomonocytic leukemia.
|
26457647 |
2015 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
SomaticCausalMutation
|
disease |
ORPHANET |
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
|
23832011 |
2013 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The RASopathies.
|
23875798 |
2013 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
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
|
1.000 |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Somatic defects in either RAS, PTPN11 or NF1 genes involved in this pathway are detected in 70-80% of JMML patients, allowing a molecular diagnosis to be made in the majority of cases.
|
20034338 |
2010 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
To further clarify the role of biallelic NF1 gene inactivation in the pathogenesis of JMML, we investigated the somatic NF1 lesion in 10 samples from children with JMML/NF-1.
|
20015894 |
2010 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
SomaticCausalMutation
|
disease |
ORPHANET |
Molecular basis of juvenile myelomonocytic leukemia.
|
20139388 |
2010 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
SomaticCausalMutation
|
disease |
ORPHANET |
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
|
19571318 |
2009 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
In summary, our data indicate that a mitotic recombination event in a JMML-initiating cell led to 17q UPD with homozygous loss of normal NF1, provide confirmatory evidence that the NF1 gene is crucial for the increased incidence of JMML in NF-1 patients, and corroborate the concept that RAS pathway deregulation is central to JMML pathogenesis.
|
17353900 |
2007 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Von Recklinghausen's disease is a relatively common familial genetic disorder characterized by inactivating mutations of the Neurofibromatosis-1 (NF1) gene that predisposes these patients to malignancies, including an increased risk for juvenile myelomonocytic leukemia.
|
15988004 |
2005 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although abnormalities in the neurofibromatosis 1 (NF1) gene, which is a gene involved in the ras pathway, have been observed frequently in patients with juvenile chronic myelogenous leukemia, the role of these abnormalities in adult patients with AML or MDS is not clear.
|
12518368 |
2003 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our results support the theory that JMML may derive from pluripotential cells and that the occurrence of monosomy of chromosome 7 within a clone of cells having an aberrant neurofibromatosis type 1 (NF1) gene may be the cause of JMML and acute leukemia.
|
12531231 |
2003 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The data show that malignant JMML and lymphoma cells share a common loss of genetic material involving the normal NF1 gene and approximately 50 Mb of flanking sequence, suggesting that the abnormal T-lymphoid and myeloid populations were derived from a common precursor cell.
|
10979983 |
2000 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss of heterozygosity of NF1 gene in juvenile chronic myelogenous leukemia with neurofibromatosis type 1.
|
9713168 |
1998 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The purpose of this study was to determine if the NF1 gene was involved in the pathogenesis of JMML in children without a clinical diagnosis of NF1.
|
9639526 |
1998 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We suggest that NF1 gene mutation does not occur frequently in JCML without NF1.
|
9691142 |
1998 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The transient thrombocythemia may relate to a regulator of megakaryocytopoiesis located in the vicinity of the NF1 gene or to the excessive risk of chronic myelomonocytic leukemia in neurofibromatosis.
|
9042140 |
1997 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A germline mutation in the NF1 gene and sequential inactivation of p53 alleles in the malignant clone of JCML raise the possibility of a correlation between NF1 and p53 genes in the tumorigenesis of JCML.
|
9366306 |
1997 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Studies on NF1 patients with Mo 7-MPD and juvenile chronic myeloid leukemia (JCML) have suggested the role of the NF1 gene in the leukemogenesis.
|
8808725 |
1996 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This hypothesis is supported by data suggesting that mutations in the human NF1 gene are causally associated with the development of juvenile chronic myelogenous leukemia (K. M. Shannon, P. O'Connell, G. A. Martin, D. Paderanga, K. Olson, P. Dinndorf, and F. McCormick, N. Engl.J. Med.
|
7609078 |
1995 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|