What is an IDH1 mutation?

What is an IDH1 mutation?

IDH mutations are found in about one-quarter of people with acute myeloid leukemia (AML), the most common type of leukemia in adults. They may also be found in a type of bile duct cancer called cholangiocarcinoma, a bone cancer called chondrosarcoma, low-grade glioma, and some kinds of lymphoma.

What is IDH1?

Function. As an isocitrate dehydrogenase, IDH1 catalyzes the reversible oxidative decarboxylation of isocitrate to yield α-ketoglutarate (α-KG) as part of the TCA cycle in glucose metabolism.

Is IDH1 hereditary?

The IDH1 gene mutations that cause Maffucci syndrome are somatic, which means they occur during a person’s lifetime and are not inherited. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation.

What is IDH wild type?

Astrocytoma of the isocitrate dehydrogenase (IDH) wild-type gene is described as a provisional entity within the new World Health Organization (WHO) classification. Some groups believe that IDH wild-type lower-grade gliomas, when interrogated for other biomarkers, will mostly turn out to be glioblastoma.

Is the IDH1 / 2 gene mutated in ICC?

Intrahepatic cholangiocarcinoma (ICC) is a rare but fatal tumor. The isocitrate dehydrogenase 1 and 2 (IDH1 / 2) genes are known to be mutated in ICC. IDH1 / 2 mutations tend to be accompanied by enhanced hypermethylation at a subset of genomic loci.

Can a cholangiocarcinoma be an intrahepatic mutation?

Of the cholangiocarcinomas, IDH1 / 2 mutations are found in intrahepatic cholangiocarcinomas (ICCs) and rarely, if ever, in perihilar or extrahepatic cholangiocarcinomas 5, 6 .

What is the role of IDH1 mutation in gastrointestinal cancer?

Thus, IDH1 mutation is a molecular feature of cholangiocarcinomas of intrahepatic origin. These findings define a specific metabolic abnormality in this largely incurable type of gastrointestinal cancer and present a potentially new target for therapy.

Where are IDH1 / 2 mutations most likely to be found?

IDH1 / 2 mutations are mainly found in gliomas, acute myelogenous leukemia, and chondroid tumors but rarely found in epithelial malignancies except for cholangiocarcinomas 4.

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