Sarcoma susceptibility
Gene: TERTComment on list classification: Although there is evidence to support that TERT promoter variants affect prognosis, they are not the driving alteration in SFT. Furthermore, this cancer panel is intended for germline susceptibility findings rather than somatic variants as described in the case of TERT.
Therefore, assigning a Red rating to the TERT gene on this panel.Created: 12 Mar 2024, 1:29 p.m. | Last Modified: 12 Mar 2024, 1:29 p.m.
Panel Version: 1.78
New gene added to the panel by Adrienne Flanagan (Royal National Orthopaedic Hospital). Several studies have linked somatic TERT promoter variants to solitary fibrous tumours, particularly associated with adverse patient outcomes. However, the hallmark sign of this tumour type is the NAB2-STAT6 gene fusion, which drives oncogenesis via dysregulation of EGR1-dependent gene expression.Created: 12 Mar 2024, 1:29 p.m. | Last Modified: 12 Mar 2024, 1:29 p.m.
Panel Version: 1.77
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Solitary Fibrous Tumours
Publications
Solitary fibrous tumour (SFT) is a rare mesenchymal tumour with a wide anatomical distribution, including superficial and deep soft tissue, visceral organs and bone and is most common in adults. The tumours classified in the intermediate risk group by WHO grading system are difficult to prognosticate. Recent studies show that C228T TERT promoter (pTERT) mutation is associated with reduced survival in SFT. pTERT mutation is more common in intermediate and high-risk groups, and is associated with poorer outcome. Detection of the pTERT mutation has the potential to improve current prognostication and guide management of patients with intermediate-risk solitary fibrous tumours.
These findings were validated by a study presented at the 2023 joint winter meeting of Pathological Society with the RSM, abstract OF6:
https://www.pathsoc.org/_userfiles/pages/files/abstracts_booklet_winter_meeting_2023.pdf
Sources: Literature, OtherCreated: 15 Jan 2024, 5:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Solitary Fibrous Tumour
Publications
Publications for gene: TERT were set to PMID: 31529158
Gene: tert has been classified as Red List (Low Evidence).
Tag promoter tag was added to gene: TERT. Tag somatic tag was added to gene: TERT.
gene: TERT was added gene: TERT was added to Sarcoma susceptibility. Sources: Literature,Other Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TERT were set to PMID: 31529158 Phenotypes for gene: TERT were set to Solitary Fibrous Tumour Review for gene: TERT was set to GREEN