Published July 27, 2021
| Version v1
Journal article
Open
Clinical Significance of Telomerase Reverse-Transcriptase Promoter Mutations in Hepatocellular Carcinoma
Creators
- 1. Molecular Biology and Viral Oncology Unit, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, 80131 Napoli
- 2. Hepatobiliary Surgery Unit, Istituto Nazionale Tumori IRCCS Fondazione Pascale, 80131 Napoli,
- 3. Research Infrastructures for Marine Biological Resources, Stazione Zoologica Anton Dohrn, 80122 Napoli,
- 4. Cancer Immunoregulation Unit, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, 80131 Napoli,
- 5. Department of Pathology, Istituto Nazionale Tumori IRCCS Fondazione Pascale, 80131 Napoli, It
Description
Activating mutations in the promoter region of TERT (TERTp) gene are frequently observed in low- and high-grade dysplastic nodules and defined as early events in hepatocellular carcinoma development. This study shows that the nucleotide change G>A at position −124 in the TERTp region is very common in hepatocellular carcinoma. The concordance rate between droplet digital PCR (ddPCR) (63.6%) and Sanger sequencing (52.1%) detection methods is good (83.5%). HCC patients carrying the TERTp mutation had lower levels of the tumour biomarker Ca19-9 but showed reduced survival. The presence of TERTp mutations may represent a prognostic signature in liver cancer.