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Updated: May 2, 2026
Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
BRAF V600E does not predict aggressive features of pediatric papillary thyroid carcinoma
Daniel J Givens1, Luke O Buchmann, Archana M Agarwal
1Division of Otolaryngology, Head & Neck Surgery, The University of Utah, Salt Lake City, Utah, U.S.A.
Objectives/Hypothesis:
This study aimed to review the prevalence of the BRAF V600E mutation in pediatric papillary thyroid carcinoma (PTC) and any possible association with aggressive tumor behavior.
Study Design:
A retrospective chart review and post hoc BRAF V600E mutational analysis of archived tumor tissue.
Methods:
Patients 0 to 18 years old who underwent surgery for PTC from 1999 to 2012 were selected for a retrospective chart review to assess for aggressive disease characteristics. Microdissection was performed on archived tumor tissue, which was analyzed for the BRAF V600E mutation by pyrosequencing.
Results:
Archived tumor specimens were available for 19/27 pediatric patients who fit the inclusion criteria. Ages ranged from 2.8 to 18 years (median, 13.7 years). Thirteen patients (68.4%) had central neck metastases, eight (42.1%) had lateral neck metastases, and five (26.3%) had pulmonary metastases. The BRAF V600E mutation was present in seven patients (36.8%). There were 11 patients with classic PTC, seven with a follicular variant of PTC, and one with an oncocytic variant. Seven (63.6%) with classical PTC were BRAF V600E positive. All histologic variants were wild type. PTC histology significantly correlated with the BRAF mutation (P = .013). The BRAF mutation was associated with a lower metastases, age at diagnosis, completeness of resection, invasion, and size of the tumor score, which trended toward significance (P = .087). Presence of lymphatic or pulmonary metastases, tumor size, overall age, lymphovascular invasion, or extrathyroidal extension were not associated with BRAF V600E. Our results are combined with existing studies for a combined incidence of 28.4%.
Conclusions:
BRAF V600E mutations may be more prevalent than previously thought in pediatric patients with PTC, but do not correlate with aggressive disease characteristics.
