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Objectives The primary objective of this study was to determine the prevalence of BRAF V600E and TERTpromoter mutations in paediatric and young adult patients with papillary thyroid carcinoma (PTC) and the secondary objective, to assess their association with clinicopathological features. Methods Patients ≤20 years who underwent surgery for differentiated thyroid cancer (DTC) from 2005 to 2018 were consecutively enrolled for BRAF V600E and TERTpromoter mutations analysis and records analysed for the association of aggressive features. Univariate analysis and multivariate logistic regression were used to identify the independent predictors of BRAF V600E mutations. Results Among 100 patients with DTC, 68 patients were ≤18 years and the remaining 30 patients were &gt;18 years of age with a median age of 17 years (IQR 14-19 years) 98 patients had PTC and 2 had FTC. BRAF V600E mutation was present in 14/98 (14.3%) PTC and TERTpromoter mutation noted in none. Multivariate analysis identified RAI refractoriness (OR:10.57, 95% CI: 2.6 to 41.6, P-0.0008) as an independent factor associated with BRAF V600E mutation. 17 patients with distant metastases were negative for both BRAF V600E or TERTpromoter mutation. No significant association was observed between age, gender, PTC variants, extra-thyroidal extension, lymphovascular invasion, multifocality, RAI administration and event rate with BRAF V600E mutation. Irrespective of BRAF V600E mutation, radioiodine refractory status (p-0.0001) had a reduced EFS probability. Conclusion In paediatric &amp; young adult PTC, TERTpromoter mutation is absent and BRAFV600E mutation is not associated with distant metastasis. The prevalence rate of the BRAF V600E mutation is much lower compared to adult PTC patients.

BRAF V600E and TERT promoter mutations in paediatric and young adult papillary thyroid cancer and clinicopathological correlation