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BRAFV600E and TERT promoter mutations in paediatric and young adult papillary thyroid cancer and clinicopathological correlation

  • Dhritiman Chakraborty , Sunil Shakya , Sanjana Ballal , Shipra Agarwal and Chandrasekhar Bal EMAIL logo
Published/Copyright: October 7, 2020
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 33 Issue 11

Abstract

Objectives

The primary objective of this study was to determine the prevalence of BRAFV600E 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 BRAFV600E 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 BRAFV600E mutations.

Results

Among 100 patients with DTC, 68 patients were ≤18 years and the remaining 30 patients were >18 years of age with a median age of 17 years (IQR 14–19 years) 98 patients had PTC and 2 had FTC. BRAFV600E 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 BRAFV600E mutation. 17 patients with distant metastases were negative for both BRAFV600E 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 BRAFV600E mutation. Irrespective of BRAFV600E mutation, radioiodine refractory status (p-0.0001) had a reduced EFS probability.

Conclusion

In paediatric & young adult PTC, TERTpromoter mutation is absent and BRAFV600E mutation is not associated with distant metastasis. The prevalence rate of the BRAFV600E mutation is much lower compared to adult PTC patients.

Keywords: BRAFV600E mutation; paediatric and young adult; papillary thyroid cancer; TERT mutation; thyroid cancer
Corresponding author: Dr Chandrasekhar Bal, MD, D.Sc. Professor & Head, Department of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi, India, Phone: +91 90137 75659, E-mail:

  1. Research funding: This work was funded by a grant from Indian Council of Medical Research (ICMR/5/13/5/2016-NCD-III), Department of Health Research, Govt. of India.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: No funding organizations played a role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

  4. Ethical approval: Ethical clearance was obtained before commencing the study (Ref No: IECPG-448/27.09.2018, RT-17/14.11.2018).

  5. Informed consent: Informed consent was obtained from all individuals included in this study.

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Received: 2020-04-05
Accepted: 2020-09-13
Published Online: 2020-10-07
Published in Print: 2020-11-26

© 2020 Walter de Gruyter GmbH, Berlin/Boston

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https://doi.org/10.1515/jpem-2020-0174
Keywords for this article
BRAFV600E mutation; paediatric and young adult; papillary thyroid cancer; TERT mutation; thyroid cancer

Articles in the same Issue

  1. Frontmatter
  2. Review Article
  3. The influence of growth hormone therapy on the cardiovascular system in Turner syndrome
  4. Original Articles
  5. Clinical utility of urinary gonadotrophins in hypergonadotrophic states as Turner syndrome
  6. Sclerostin and osteoprotegerin: new markers of chronic kidney disease mediated mineral and bone disease in children
  7. Monthly intravenous alendronate treatment can maintain bone strength in osteogenesis imperfecta patients following cyclical pamidronate treatment
  8. Mechanisms and early patterns of dyslipidemia in pediatric type 1 and type 2 diabetes
  9. Frequency of thyroid dysfunction in pediatric patients with congenital heart disease exposed to iodinated contrast media – a long-term observational study
  10. Effect of growth hormone therapy on thyroid function in isolated growth hormone deficient and short small for gestational age children: a two-year study, including on assessment of the usefulness of the thyrotropin-releasing hormone (TRH) stimulation test
  11. Clinical relevance of T lymphocyte subsets in pediatric Graves’ disease
  12. Long-term follow-up of differentiated thyroid carcinoma in children and adolescents
  13. A quality improvement project for managing hypocalcemia after pediatric total thyroidectomy
  14. Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil
  15. Clinical characteristics, surgical approach, BRAFV600E mutation and sodium iodine symporter expression in pediatric patients with thyroid carcinoma
  16. BRAFV600E and TERT promoter mutations in paediatric and young adult papillary thyroid cancer and clinicopathological correlation
  17. Case Reports
  18. Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence
  19. Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review
  20. Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature
  21. Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism
  22. Non-classical lipoid adrenal hyperplasia presenting as hypoglycemic seizures
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