Endocrine oncology

Fusion Oncogenes in Patients With Locally Advanced or Distant Metastatic Differentiated Thyroid Cancer

J Clin Endocrinol MetabPublished Cohort study

Main finding · Prevalence of fusion oncogenesResult — go to the resultOdds ratio 2.411 95% CI 1.329–4.311

Authors' 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

OutcomeOR (95% CI)P value
More advanced AJCC_N stage15.47 (2.54–160.9)P = 0.0002
More advanced AJCC_M stage2.35 (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 oncogenes0.50 (0.27–0.95)P = 0.029

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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