|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling.
|
16461457 |
2006 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
These data suggest that there is a genotype/phenotype correlation in the spectrum of PTPN11 mutations found in patients with JMML, NS/MPD, and NS.
|
15928039 |
2005 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis.
|
19008228 |
2009 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
|
22371576 |
2012 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
CTD_human |
Mutations in PTPN11, the gene encoding the protein tyrosine phosphatase Shp2, are common in juvenile myelomonocytic leukemia and induce hyperactivation of the phosphoinositide-3-kinase pathway.
|
22315502 |
2012 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
|
15834506 |
2005 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.
|
26742426 |
2016 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This report describes a juvenile myelomonocytic leukemia (JMML) case with a typical PTPN11 mutation (p.E76K) at different allele frequencies in the bone marrow mononuclear cells, buccal smear cells, and fingernails at diagnosis, which was suggestive of PTPN11 somatic mosaicism; however, the PTPN11 mutation in the buccal smear cells and fingernails was lost after unrelated cord blood transplantation.
|
26440969 |
2015 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
These data suggest that there is a genotype/phenotype correlation in the spectrum of PTPN11 mutations found in patients with JMML, NS/MPD, and NS.
|
15928039 |
2005 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor.
|
15644411 |
2005 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia.
|
15725481 |
2005 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
|
15987685 |
2005 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.
|
20112233 |
2010 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Animal models of mutant Ptpn11 have probed the signaling pathways that contribute to JMML.
|
29774106 |
2018 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The genetic landscape of high-risk neuroblastoma.
|
23334666 |
2013 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of the PTPN11 gene encoding the SHP2 tyrosine phosphatase is the most common genetic abnormality in juvenile myelomonocytic leukemia and is sporadically observed in myelodysplasia (MDS) and acute myeloid leukemia (AML).
|
17330262 |
2007 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia.
|
23918763 |
2013 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
|
14644997 |
2004 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
|
12325025 |
2002 |
|
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 |
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
|
15842656 |
2005 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present the case of a child with JMML in the setting of germline PTPN11 mutation and Noonan syndrome with suspected secondary development of monosomy 7 in the bone marrow.
|
28084675 |
2017 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
|
19352411 |
2009 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11.
|
17353900 |
2007 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.
|
18925961 |
2008 |