|
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Juvenile myelomonocytic leukemia (JMML) is characterized by myelomonocytic cell overproduction and commonly bears activating mutations in PTPN11.
|
19528235 |
2009 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
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 |
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 |
Ptpn11(E76K) mutation is the most common and most active Ptpn11 mutation found in JMML and acute leukemias.
|
21930766 |
2011 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
SomaticCausalMutation
|
disease |
ORPHANET |
Ptpn11(E76K) mutation is the most common and most active Ptpn11 mutation found in JMML and acute leukemias.
|
21930766 |
2011 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 mutation with additional alterations showed significantly the poorest outcome in comparison with those with only one non-PTPN11 mutation, only one PTPN11 mutation, and combined mutations without PTPN11, respectively (P < 0.0001).Conclusion: Both PTPN11 mutation and the number of somatic alterations detected at diagnosis are likely to be the major determinant of outcome in JMML.
|
31807902 |
2020 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia.
|
15211660 |
2004 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A JMML-like myeloproliferative disorder has been described in about 30 neonates with NS and the PTPN11 mutation.
|
20029231 |
2009 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells.
|
20651068 |
2010 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A suggested role for mitochondria in Noonan syndrome.
|
19835954 |
2010 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in Shp2 are commonly associated with juvenile myelomonocytic leukemia but are not as well defined in other neoplasms.
|
25650089 |
2015 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.
|
15604238 |
2004 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
|
22465605 |
2012 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although the risk of developing MPD/JMML could not be fully predicted by the underlying PTPN11 mutation, some germline PTPN11 mutations were preferentially associated with myeloproliferation: 10/48 patients with NS (20.8%) with a mutation in codon Asp61 developed MPD/JMML in infancy.
|
25097206 |
2014 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Among children with JMML (CMML/JCML) not receiving a BMT, time to death was shortest in those best described as JCML (absence of constitutional and karyotypic derangement, thrombocytopenia and elevated Hb F).
|
10706766 |
2000 |
|
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 |
Biomarker
|
disease |
BEFREE |
At least one protein phosphatase, PTPN11, has emerged as a critical driver of this process in juvenile myelomonocytic leukemia.
|
30026077 |
2019 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
|
21407260 |
2011 |
|
Juvenile Myelomonocytic Leukemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Chemical inhibition of TNK2 blocked MAPK signaling and colony formation in vitro and decreased disease burden in a patient with PTPN11-mutant JMML who was treated with the multikinase (including TNK2) inhibitor dasatinib.
|
30018082 |
2018 |