Clinically aggressive follicular cell-derived thyroid carcinoma: A comprehensive series with histomolecular characterization and discovery of novel gene fusions
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View abstract on PubMed
Summary
This summary is machine-generated.Aggressive thyroid cancers, often resistant to treatment, were analyzed for molecular drivers. Researchers identified key gene fusions, including novel UGGT1::TERT, BTBD9::TERT, and TG::IGF1R fusions, offering new therapeutic targets.
Area Of Science
- Oncology
- Molecular Biology
- Genetics
Background
- Thyroid cancer incidence is rising, with aggressive subtypes posing significant clinical challenges.
- Understanding the molecular underpinnings of aggressive, metastatic, and radioiodine-refractory thyroid carcinomas is crucial for developing effective treatments.
Purpose Of The Study
- To perform comprehensive molecular profiling of aggressive thyroid carcinomas to identify key mutations and gene fusions.
- To investigate the potential role of novel gene fusions in driving tumor aggressiveness and treatment resistance.
Main Methods
- Molecular profiling of 57 aggressive thyroid carcinoma patients using next-generation sequencing and RNA sequencing.
- Histopathological analysis to characterize tumor subtypes.
- Identification and analysis of gene mutations and fusions.
Main Results
- BRAF V600E, TERT promoter, and RAS mutations were prevalent.
- Ten gene fusions, including NTRK and RET, were identified.
- Three novel fusions (UGGT1::TERT, BTBD9::TERT, TG::IGF1R) were discovered and linked to specific aggressive subtypes, including radioiodine-refractory tall cell papillary thyroid carcinoma (PTC), high-grade follicular PTC, and oncocytic carcinoma.
Conclusions
- TERT alterations play a significant role in aggressive thyroid cancer phenotypes.
- Novel gene fusions represent potential therapeutic targets and prognostic markers for aggressive thyroid carcinomas.
- Further research is needed to validate these findings for clinical application.
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