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The clinical significance of BRAFV600E mutations in pediatric papillary thyroid carcinomas

Yangsen Li1, Yuanyuan Wang1, Liwen Li1

  • 1Department of Thyroid Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.

Scientific Reports
|July 25, 2022
PubMed

Insights

BRAFV600E mutations are common in pediatric papillary thyroid carcinoma (PTC), occurring more in boys and older children. These mutations did not indicate a more aggressive disease course in the short term for pediatric PTC patients.

Area of Science:

  • Oncology
  • Genetics
  • Pediatric Medicine

Background:

  • Papillary thyroid carcinoma (PTC) is the most common endocrine malignancy in children and adolescents.
  • BRAFV600E mutations are frequently observed in adult PTC but their clinical significance in pediatric PTC remains under investigation.

Purpose of the Study:

  • To investigate the clinical significance and clinicopathological correlations of BRAFV600E mutations in pediatric papillary thyroid carcinoma.
  • To determine if BRAFV600E mutations predict disease aggressiveness in young PTC patients.

Main Methods:

  • Retrospective analysis of 169 pediatric patients diagnosed with PTC between 2018 and 2021.
  • BRAFV600E gene mutation detection using molecular methods.
  • Correlation analysis between BRAFV600E mutation status and clinicopathological features.

Main Results:

  • BRAFV600E mutation was detected in 57.4% of pediatric PTC patients.
  • Higher incidence observed in males and the 13-18 year age group (P < 0.05).
  • BRAFV600E positivity was higher in unilateral PTC (67.7%) vs. bilateral PTC (28.9%), smaller tumors, lack of multifocality, lower TSH, and with central lymph node metastasis.

Conclusions:

  • BRAFV600E mutations are prevalent in pediatric PTC and associated with specific clinicopathological features.
  • Short-term follow-up suggests BRAFV600E mutations do not necessarily indicate a more aggressive clinical course in pediatric PTC.

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