Endocrine oncology

TERT Promoter Mutations Increase Tumor Aggressiveness by Altering TERT mRNA Splicing in Papillary Thyroid Carcinoma

J Clin Endocrinol MetabPublished Mechanistic study

An erratum to this article was published (J Clin Endocrinol Metab, 16 Sep 2024 ↗)

Authors' conclusion

These results provide evidence that the TERT-p mutations alter the expression of different TERT splice variants, which, in turn, associates with different tumor aggressiveness.

Study context

Population
Papillary Thyroid Carcinomas (PTCs) operated on between November 2001 and March 2020 at Nagasaki University Hospital and Kuma Hospital
Participants
207 PTCs
Comparison
Telomerase reverse transcriptase promoter (TERT-p) mutation and expression status groups
  • Mut-/exp+n = 24
  • Mut+/exp+n = 33
Outcome
TERT splice variants (α deletion, β deletion) by TERT-p status and clinicopathological features
Methodological detailstwo-centre, in vitro functional study
  • Two-centre
  • In vitro functional study

Main finding

As reported in the abstract

  • +A+B expression was associated with higher PTC aggressiveness, whereas dB expression counteracted this effect
  • In vitro, dB strongly inhibited cell growth, migration and clonogenicity, suggesting a tumor-suppressive role
  • Mut+/exp+ vs mut-/exp+: significantly higher in mut+/exp+

Original publication

TERT Promoter Mutations Increase Tumor Aggressiveness by Altering TERT mRNA Splicing in Papillary Thyroid Carcinoma. J Clin Endocrinol Metab. Published 5 April 2024. doi:10.1210/clinem/dgae220

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