Enchondromatosis
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Enchondromatosis
|
0.790 |
Biomarker
|
disease |
HPO |
|
|
|
Enchondromatosis
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.
|
22057234 |
2011 |
Enchondromatosis
|
0.790 |
Biomarker
|
disease |
CTD_human |
In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.
|
22057234 |
2011 |
Enchondromatosis
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.
|
22057234 |
2011 |
Enchondromatosis
|
0.790 |
SomaticCausalMutation
|
disease |
ORPHANET |
In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors.
|
22057234 |
2011 |
Enchondromatosis
|
0.790 |
Biomarker
|
disease |
CTD_human |
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.
|
22057236 |
2011 |
Enchondromatosis
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.
|
22057236 |
2011 |
Enchondromatosis
|
0.790 |
SomaticCausalMutation
|
disease |
ORPHANET |
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.
|
22057236 |
2011 |
Enchondromatosis
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.
|
22057236 |
2011 |
Enchondromatosis
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, somatic IDH1 and IDH2 mutations, and loss-of-function mutations in ten-eleven translocation (TET) methylcytosine dioxygenase-2 (TET2) associated with a hypermethylation phenotype, are also found in multiple enchondromas of patients with Ollier disease and Mafucci syndrome, and leukemia, respectively.
|
23801749 |
2013 |
Enchondromatosis
|
0.790 |
Biomarker
|
disease |
BEFREE |
Mutant IDH is sufficient to initiate enchondromatosis in mice.
|
25730874 |
2015 |
Enchondromatosis
|
0.790 |
Biomarker
|
disease |
BEFREE |
Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a somatic mosaic fashion in patients with multiple enchondromas.
|
26046462 |
2015 |
Enchondromatosis
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Ollier disease and Maffucci syndrome are two enchondromatosis syndromes characterized by the development of multiple benign cartilaginous tumors due to post-zygotic acquisition of IDH mutations.
|
27036230 |
2016 |
Enchondromatosis
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors.
|
29339836 |
2018 |
Enchondromatosis
|
0.790 |
Biomarker
|
disease |
BEFREE |
Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism.
|
30159860 |
2018 |
Enchondromatosis
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis.
|
31240473 |
2019 |