Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report on an infant with JMML with somatic KRAS G12A mutation and monosomy 7 who achieved sustained remission following azacitidine monotherapy.
|
31250550 |
2019 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Juvenile myelomonocytic leukemia in the patient was attributed to a somatic KRAS mutation, whereas the syndromic features of the patient were considered a consequence of germline chromosome 10q22.3-q23.2 deletion.
|
30012129 |
2018 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this report, we describe a case of JMML with blastic transformation possibly caused by additional copy number gains of the KRAS mutant allele.
|
28244637 |
2017 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Finally, we found that primary cells from a patient with KRAS-mutant juvenile myelomonocytic leukemia displayed reduced colony formation in response to JAK2 inhibition.
|
27418650 |
2016 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The final two cases (MYH9 associated macrothrombocytopenia associated with multiple congenital anomalies; atypical juvenile myelomonocytic leukaemia associated with a KRAS mutation) highlight the utility of NGS where the diagnosis is less certain, or where there is an unusual phenotype.
|
25703294 |
2016 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
CTD_human |
The genomic landscape of juvenile myelomonocytic leukemia.
|
26457647 |
2015 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
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
|
1.000 |
Biomarker
|
disease |
BEFREE |
The loss of the wild-type KRAS allele may be a common secondary genetic change in KRAS-related JMML and may affect the differentiation behavior of early JMML progenitors.
|
24766281 |
2015 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
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
|
1.000 |
Biomarker
|
disease |
BEFREE |
We demonstrated that duplication of oncogenic KRAS is associated with rapid JMML progression.
|
23403250 |
2013 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
On the basis of the clinical suspicion of NS, mutation analysis revealed a KRAS mutation, which is known to be common to both NS and JMML.
|
22510777 |
2012 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
KRAS(G12V) enhances proliferation and initiates myelomonocytic differentiation in human stem/progenitor cells via intrinsic and extrinsic pathways.
|
21169357 |
2011 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
SomaticCausalMutation
|
disease |
ORPHANET |
Molecular basis of juvenile myelomonocytic leukemia.
|
20139388 |
2010 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
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
|
1.000 |
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
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay.
|
19358724 |
2009 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.
|
17910045 |
2008 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data indicate that SHIP-1 can effectively block GM-CSF hypersensitivity in JMML progenitor cells with mutations in KRAS2 or PTPN11 and may be a useful approach for the treatment of JMML patients.
|
17268534 |
2007 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
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
|
1.000 |
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
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
|
17704260 |
2007 |
Juvenile Myelomonocytic Leukemia
|
1.000 |
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
|
1.000 |
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 |