TERT

Overview

TERT (Telomerase Reverse Transcriptase) encodes the catalytic subunit of telomerase, the ribonucleoprotein enzyme that maintains telomere length. TERT upregulation or amplification enables replicative immortality, one of the hallmarks of cancer. TERT promoter mutations (not captured by exome sequencing) and focal amplifications are recurrent oncogenic events across multiple cancer types. In esophageal squamous cell carcinoma, TERT is focally amplified.

Alterations observed in the corpus

  • Recurrent focal amplification of TERT identified in ESCC (ESCC) in the TCGA esophageal carcinoma cohort (stes_tcga_pub, n=90 ESCC); listed among the recurrent focal amplifications in ESCC alongside FGFR1, MDM2, and NKX2-1. PMID:28052061
  • TERT aberrations (translocations, copy gains, missense and promoter mutations, or germline events) in 41% (14/34) of acral lentiginous melanoma (ACRM) patients; Telomerase Inhibitor IX produced ≥75% loss of viability in two primary ALM cell lines with TERT CNV gain or promoter mutation PMID:28373299.
  • Promoter mutation in 18/19 sequenced oligodendroglioma tumors (95%), the most frequent abnormality observed; characteristic of 1p/19q-codeleted oligodendroglioma and absent in 1p/19q-intact glioblastoma-like cases PMID:28472509
  • Promoter mutations at canonical -124/-146 hotspots (96.3% of TERT promoter events) plus 10 novel recurrent positions including -138 (n=21); highest frequency in bladder (BLCA), glioma, thyroid, and melanoma in pan-cancer MSK-IMPACT analysis (n=10,336); trend toward shorter overall survival PMID:28481359
  • Promoter mutations in 73% of NMIBC (n=105); uniformly high across grade and stage; supports use as a noninvasive urinary screening/surveillance biomarker PMID:28583311
  • Promoter mutations rare in cholangiocarcinoma (2/71 WGS cases, 2.8%) at chr5:1295228 PMID:28667006
  • Promoter hotspots are the only confident noncoding driver region across the 491-sample medulloblastoma ICGC cohort PMID:28726821
  • Amplification defines DDLPS K2 cluster in sarcoma; recurrent TRIO-TERT fusions (n=3) drive highest TERT expression in sarcoma PMID:28988769
  • Amplification defines DDLPS K2 cluster; recurrent TRIO-TERT fusions (n=3) produce highest TERT expression across sarcoma subtypes PMID:29100075
  • TERT promoter mutations are non-coding and fall outside the Broad BED capture kit, causing them to be excluded by the MC3 bitgt filter; the authors flag this as a clinically meaningful side-effect of pancan one-size-fits-all capture masking PMID:29596782
  • TERT invoked in discussion as a potentially insufficient activation context (alongside p53/RB inhibition) for selection of broad aneuploidies in vitro in the AALE cell model PMID:29622463

Cancer types (linked)

  • ESCC: TERT focal amplification is a recurrent copy-number event; no subtype-specific enrichment described in the corpus. PMID:28052061

Co-occurrence and mutual exclusivity

  • Co-amplified with FGFR1, MDM2, and NKX2-1 as part of the recurrent amplification landscape of ESCC; no specific co-occurrence or mutual exclusivity patterns reported. PMID:28052061

Therapeutic relevance

  • No direct targeted therapy for TERT amplification in ESCC is described in the corpus; telomerase inhibitors remain investigational.

Open questions

  • Whether TERT amplification in ESCC correlates with subtype, prognosis, or therapeutic response requires further analysis. PMID:28052061

Sources

This page was processed by entity-page-writer on 2026-05-15. - PMID:28373299

This page was processed by wiki-cli on 2026-05-14. - PMID:28472509

This page was processed by wiki-cli on 2026-05-15. - PMID:28481359

This page was processed by wiki-cli on 2026-05-15. - PMID:28583311

This page was processed by wiki-cli on 2026-05-15. - PMID:28667006

This page was processed by wiki-cli on 2026-05-15. - PMID:28726821

This page was processed by wiki-cli on 2026-05-15. - PMID:28988769

This page was processed by wiki-cli on 2026-05-15. - PMID:29100075

This page was processed by wiki-cli on 2026-05-15. - PMID:29596782

This page was processed by wiki-cli on 2026-05-15. - PMID:29622463

This page was processed by wiki-cli on 2026-05-15.