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

N. diseases: 380; N. variants: 15
Disease: Undifferentiated carcinoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.030 GeneticVariation disease BEFREE Our study suggests that positive IDH2 11C8B1 immunohistochemistry in sinonasal carcinomas would be highly predictive of the presence of IDH2 R172S/T mutations and could serve as a reliable adjunct diagnostic marker of sinonasal undifferentiated carcinomas in >70% cases. 30206411 2019
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.030 GeneticVariation disease BEFREE Immunohistochemical Detection and Molecular Characterization of IDH-mutant Sinonasal Undifferentiated Carcinomas. 29683816 2018
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.030 GeneticVariation disease BEFREE We demonstrate that the majority of histologically defined sinonasal undifferentiated carcinomas are characterized by IDH2 R172X mutations and overexpression of mutant protein. 28084339 2017