IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
Disease: Chondrosarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE The low rate of IDH mutations observed in laryngotracheal chondrosarcomas suggests a different mode of tumorigenesis needing further exploration. 30296521 2019
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE 60% of central chondrosarcoma is characterised by either isocitrate dehydrogenase (IDH) 1 or IDH2 mutations distinguishing them from other cartilaginous tumours. 30582658 2019
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE Chondrosarcoma is a malignant cartilage-forming bone tumour in which mutations in IDH1 and IDH2 frequently occur. 29576625 2018
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE Mutations in IDH1 and IDH2 have recently been observed in multiple tumors, including gliomas, acute myeloid leukemia, myelodysplastic syndromes, and chondrosarcoma. 29773061 2018
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE We sought to investigate whether an IDH1 or IDH2 mutation signature could be used as a clinically diagnostic marker for the distinction of dedifferentiated component of chondrosarcoma from UPS of bone. 28552826 2017
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE Mutations in IDH1/2, present in more than 50% of primary conventional chondrosarcomas, make the development of IDH inhibitors a promising treatment option. 28133974 2017
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE Recurrent mutations in IDH1 or IDH2 are prevalent in several cancers including glioma, acute myeloid leukemia (AML), cholangiocarcinoma and chondrosarcoma. 27355333 2016
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE A recent comprehensive study has identified the isocitrate dehydrogenase 1 (IDH1) and IDH2 mutations in conventional central and periosteal cartilaginous tumors, and it has subsequently been analyzed in intracranial chondrosarcoma and chondroma, including chondroma of the convexity dura mater. 27461824 2016
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE Thus, clinical trials of mutant IDH inhibitors are warranted for patients with IDH-mutant chondrosarcomas. 26368816 2015
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE Specific point mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) occur in a variety of cancers, including acute myeloid leukemia (AML), low-grade gliomas, and chondrosarcomas. 25956465 2015
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE Here, we identified the spectrum of IDH mutations in human enchondromas and chondrosarcomas and studied their effects in mice. 25730874 2015
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE Mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are key events in the development of glioma, acute myeloid leukemia (AML), chondrosarcoma, intrahepatic cholangiocarcinoma (ICC), and angioimmunoblastic T-cell lymphoma. 24880135 2014
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE Mutations in the metabolic enzymes isocitrate dehydrogenase 1 (IDH1) and 2 (IDH2) are frequently found in glioma, acute myeloid leukemia (AML), melanoma, thyroid cancer, and chondrosarcoma patients. 23954893 2013
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE Recent work has identified frequent, recurrent mutations in IDH1 or IDH2 in nearly half of central chondrosarcomas. 23770606 2013
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE More than 50% of patients with chondrosarcomas exhibit gain-of-function mutations in either isocitrate dehydrogenase 1 (IDH1) or IDH2. 24065766 2013
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE Isocitrate dehydrogenase (IDH) genes 1 and 2 are frequently mutated in acute myeloid leukaemia (AML), low-grade glioma, cholangiocarcinoma (CC) and chondrosarcoma (CS). 23863747 2013
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 Biomarker disease BEFREE Recurrent mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 have been identified in gliomas, acute myeloid leukaemias (AML) and chondrosarcomas, and share a novel enzymatic property of producing 2-hydroxyglutarate (2HG) from α-ketoglutarate. 22343901 2012
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, which will enable functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation. 22057234 2011
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 GeneticVariation disease BEFREE IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours. 21598255 2011
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.200 Biomarker disease HPO