TERT promoter mutations

Last revised by Calum Worsley on 23 Oct 2022

Citation, DOI, disclosures and article data

Citation:

Gaillard F, Worsley C, TERT promoter mutations. Reference article, Radiopaedia.org (Accessed on 16 Apr 2024) https://doi.org/10.53347/rID-52458

DOI:

https://doi.org/10.53347/rID-52458

Permalink:

https://radiopaedia.org/articles/52458

rID:

52458

Article created:

8 Apr 2017, Frank Gaillard ◉ ◈

Disclosures:

At the time the article was created Frank Gaillard had no recorded disclosures.

Last revised:

23 Oct 2022, Calum Worsley ◉

Disclosures:

At the time the article was last revised Calum Worsley had no financial relationships to ineligible companies to disclose.

Revisions:

4 times, by 2 contributors - see full revision history and disclosures

Systems:

Central Nervous System

TERT promoter mutations affect the TERT promoter (located on the short arm of chromosome 5) which encodes for the hTERT component of telomerase, an enzyme that maintains and lengthens telomeres ¹. Mutations that result in enhanced activity of telomerase, and therefore longer telomeres, can be is seen in over 50 different cancers throughout the body, including oligodendroglioma, follicular carcinomas of the thyroid, malignant melanoma, bladder transitional cell carcinoma, and hepatocellular carcinoma ^2,3,5.

In the 5th Edition of the WHO classification of CNS tumors (2021), TERT promoter mutation was included as one of a range of molecular criteria for the diagnosis of glioblastoma, IDH-wildtype ⁶.