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TERT

Sunday 26 May 2013

Pathology

- Activation of TERT has been associated with a number of malignant tumors.

- Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. (23535731)

- TERT promoter mutations in

- TERT structural rearrangements in metastatic pheochromocytomas doi : 10.1530/ERC-17-0306

  • Pheochromocytomas (PC) and paragangliomas (PGL) are endocrine tumors.
  • The risk of metastasis from a primary tumor cannot be predicted by morphology.
  • Activation of TERT has been associated with a number of malignant tumors, including PC/PGL. However, the mechanism of TERT activation in the majority of PC/PGL remains unclear.
  • As TERT promoter mutations occur rarely in PC/PGL, structural variations may underlie TERT activation in these tumors.
  • Whole genome sequencing has been identified somatic structural alterations proximal to the TERT locus in some of these tumors.
  • In these tumors, the genomic rearrangements led to the positioning of super-enhancers proximal to the TERT promoter, that are likely responsible for the activation of the normally tightly repressed TERT expression in chromaffin cells

See also

- TERT promoter

  • - TERT promoter mutation

References

- Benign and Malignant Brenner Tumors Show an Absence of TERT Promoter Mutations That Are Commonly Present in Urothelial Carcinoma.
Khani F, Diolombi ML, Khattar P, Huang W, Fallon JT, Epstein JI, Zhong M.
Am J Surg Pathol. 2016 Jun 13. PMID: 27299795

- Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Bojesen SE, Pooley KA, Johnatty SE et al. Nat Genet. 2013 Apr;45(4):371-84, 384e1-2. doi : 10.1038/ng.2566 PMID: 23535731