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IDH1 and IDH2 mutations in cholangiocarcinoma

Grassian, Alexandra, Pagliarini, Raymond and Chiang, Derek (2014) IDH1 and IDH2 mutations in cholangiocarcinoma. Current Opinion in Gastroenterology. pp. 295-302.


Purpose of review
Genetic alterations in intrahepatic cholangiocarcinomas have been poorly characterized. Recent studies have discovered that intrahepatic cholangiocarcinomas have recurrent mutations in isocitrate dehydrogenase. We will review the effects of these mutations on several biochemical pathways, as well as potential changes to downstream signaling pathways.

Recent findings
Hotspot mutations in isocitrate dehydrogenase isoforms 1 or 2 occur in 10% to 23% of intrahepatic cholangiocarcinomas. These tumors have elevated levels of an oncometabolite, 2-hydroxyglutarate, which results in higher DNA CpG methylation and altered histone methylation. Limited experiments in different tumor types have suggested higher epithelial-mesenchymal transition, FGFR signaling or MAPK signaling among IDH1/2-mutated tumors.

Tumors with IDH1 or IDH2 mutations may represent a distinct sub-type of cholangiocarcinomas. Further studies are needed to determine whether these mutated genes are responsible for tumorigenesis or tumor maintenance, as well as additional cancer genes that may cooperate with IDH1

Item Type: Article
Date Deposited: 13 Oct 2015 13:13
Last Modified: 13 Oct 2015 13:13


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