Lint: tert-promoter-mutations

"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 seen in over 50 different cancers throughout the body, including oligodendroglioma, follicular carcinomas of the thyroid, malignant melanoma, bladder urothelial carcinoma, and hepatocellular carcinoma ^2,3,5."

"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 seen in over 50 different cancers throughout the body, including oligodendroglioma, follicular carcinomas of the thyroid, malignant melanoma, bladder urothelial carcinoma, and hepatocellular carcinoma ^2,3,5."

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

"However, a recent proposal by the Consortium to Inform Molecular and Practical Approaches to Central Nervous System Tumour Taxonomy (cIMPACT-NOW) has suggested using caution when assigning CNS WHO Grade 4 (diagnosis of glioblastoma IDH-wildtype) to a 'TERT promotor only', histologically low-grade, IDH-wildtype tumour ⁷."

"However, a recent proposal by the Consortium to Inform Molecular and Practical Approaches to Central Nervous System Tumour Taxonomy (cIMPACT-NOW) has suggested using caution when assigning CNS WHO Grade 4 (diagnosis of glioblastoma IDH-wildtype) to a 'TERT promotor only', histologically low-grade, IDH-wildtype tumour ⁷."