Endocrine oncology

Characterizing Genetic Alterations Related to Radioiodine Avidity in Metastatic Thyroid Cancer

J Clin Endocrinol MetabPublished Retrospective cohort study

Authors' conclusion

Patients with the I-RAIR pattern predominantly featured mutations of the BRAF and/or TERT promoter, of which RAS mutations were usually accompanied by late-hit mutations, while fusions mostly occurred alone.

Study context

Population
Patients with differentiated thyroid cancer (DTC) with distant metastasis (DM-DTC)
Participants
214 patients
Exposure
Initially RAI refractory (I-RAIR) vs initially RAI avid (I-RAIA) patterns by molecular features
Outcome
Late-hit mutation (TERT, TP53 or PIK3CA)

Main finding

As reported in the abstract

P = 0.001

Isolated RET fusions in I-RAIR
10%

Observational data: associations, not effects.

Further findings

Rate of I-RAIR pattern by driver gene group — BRAFV600E mutated vs RAS mutated

P < 0.001

OutcomeP value
Rate of I-RAIR pattern by driver gene groupBRAFV600E mutated vs FusionsP < 0.001

Continually RAIA (C-RAIA) pattern within I-RAIA subgroups

BRAFV600E-mutated tumors have lower prevalence of C-RAIA than RAS-mutated or fusion tumors

Original publication

Characterizing Genetic Alterations Related to Radioiodine Avidity in Metastatic Thyroid Cancer. J Clin Endocrinol Metab. Published 7 December 2023. doi:10.1210/clinem/dgad697

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