SCIENTIFIC BACKGROUND

IDH1, IDH2

Category:

Scientific Background

The ForeSENTIA IDH1 and IDH2 Gene-Focused Panel tests for single nucleotide variants, insertions and deletions on the IDH1 and IDH2 genes. IDH1 and IDH2 are genes transcribed into metabolic enzymes responsible for converting isocitrate to α-ketoglutarate. This protein is essential in cell metabolism, regulation of cell signaling pathways, and cell proliferation.

In cancer, they were found to be frequently mutated resulting in abnormal cell signaling regulation, and cell proliferation of cancerous cells. Some examples of cancers caused by mutations in IDH1/IDH2  include glioblastomas, cholangiocarcinomas, and others.

 

Different drugs against IDH1 and IDH2 are currently being studied for their efficacy in different types of tumors. One drug that was recently approved by the FDA is ivosidenib, which targets IDH1 in cholangiocarcinoma patients.

 

Recommendations by professional bodies:

ESMO recommends genetic testing of IDH1 and IDH2 genes for patients with cholangiocarcinoma (Normanno et al., 2022)

 

References and more information: 

Yang H, Ye D, Guan KL, Xiong Y. IDH1 and IDH2 mutations in tumorigenesis: mechanistic insights and clinical perspectives. Clin Cancer Res. 2012 Oct 15;18(20):5562-71. doi: 10.1158/1078-0432.CCR-12-1773. PMID: 23071358; PMCID: PMC3897211.

Normanno N, Martinelli E, Melisi D, Pinto C, Rimassa L, Santini D, Scarpa A. Role of molecular genetics in the clinical management of cholangiocarcinoma. ESMO Open. 2022 Jun;7(3):100505. doi: 10.1016/j.esmoop.2022.100505. Epub 2022 Jun 10. PMID: 35696744; PMCID: PMC9198375.

GENES

IDH1, IDH2
How to order

LATEST ARTICLES

Every year on April 25th, DNA Day celebrates the discovery of DNA’s double helix and the advances we’ve made in understanding genetics. D...

Read more

Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients f...

Read more

Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced ...

Read more

Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inherited diso...

Read more

Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of two. The co...

Read more

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study...

Read more

Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a...

Read more

Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to various area...

Read more

February, designated as Cancer Awareness Month, marks a time to reflect on the remarkable progress made in cancer research and to inspire hope for th...

Read more

Introduction Cardiovascular disease (CVD) is a major health issue as it remains a leading cause of death worldwide [1]. CVD is responsible for mor...

Read more