Fusion Oncogenes in Patients With Locally Advanced or Distant Metastatic Differentiated Thyroid Cancer
Main finding · Prevalence of fusion oncogenesResult — go to the resultOdds ratio 2.411 95% CI 1.329–4.311Authors' conclusion
Fusion oncogenes were more prevalent in pediatric DTCs than in their adult counterparts and were associated with pediatric RAI refractoriness, while in adult DTCs, TERT mutation was the dominant genetic contributor to RAI refractoriness rather than fusion oncogenes.
Study context
- Population
- Patients with locally advanced (N1b or T4) or distant metastatic differentiated thyroid cancer (DTC)
- Participants
- 278 tumor samples
- Exposure
- DTC with fusion oncogenes vs without fusion oncogenes
- Outcome
- Prevalence of fusion oncogenes
Methodological detailstargeted next-generation sequencing (26-gene ThyroLead panel)
- Targeted next-generation sequencing (26-gene ThyroLead panel)
Main finding
As reported in the abstract
Odds ratio
2.411
95% CI 1.329–4.311
P = 0.003
Pediatricvs Adult
OR 2.411 (95% CI 1.329–4.311); P = 0.003
- Fusion oncogenes in samples
- 29.86%
- RET fusions
- 72
- Neurotrophic tropomyosin receptor kinase (NTRK) fusions
- 7
- Anaplastic lymphoma kinase (ALK) fusions
- 4
Observational data: associations, not effects.
Further findings
| Outcome | OR (95% CI) | P value | |
|---|---|---|---|
| More advanced AJCC_N stage | 15.47 (2.54–160.9) | P = 0.0002 | |
| More advanced AJCC_M stage | 2.35 (1.18–4.81) | P = 0.016 | |
| RAI refractoriness (pediatric DTCs) | 4.85 (1.29–15.19) | P = 0.017 | |
| RAI refractoriness (adult DTCs)Less likely with fusion oncogenes | 0.50 (0.27–0.95) | P = 0.029 | |
| 0.050.21520Odds ratio (log scale) |
TERT mutation as risk factor for radioactive iodine (RAI) refractoriness (multivariate logistic regression)
- TERT mutation, OR (95% CI 3.14-17.27), P < .001
- 7.36
- Most prominent genetic risk factor
Original publication
Fusion Oncogenes in Patients With Locally Advanced or Distant Metastatic Differentiated Thyroid Cancer. J Clin Endocrinol Metab. Published 25 August 2023. doi:10. 1210/ clinem/ dgad500
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