BRAF V600E mutational status in pediatric thyroid cancer

Abstract

This study of pediatric PTC demonstrates that BRAF(V600E) mutations occur in children at a rate comparable to adults. We found a correlation of BRAF(V600E) with the male gender, but no evidence that the mutation correlates with more extensive or aggressive disease. This analysis suggests that differences in disease course of PTC in children versus adults are not strongly dependent upon the presence of the BRAF(V600E) mutation.

Differentiated thyroid cancer in children: Heterogeneity of predictive risk factors

“…In the present study, 31.5% of paediatric patients with DTC had persistent/recurrent disease during follow‐up, which is a percentage similar to that of other reports . However, at the last evaluation, only 12.9% of patients showed biochemical or structural disease, emphasizing the good response to treatments in these patients.…”

Mutation in BRAF and Other Members of the MAPK Pathway in Papillary Thyroid Carcinoma in the Pediatric Population

“…Follicular variant was noted in 4 of 14 pediatric patients (29%), which is comparable to the 10% to 37% suggested in the literature. [10][11][12][13]16,30 The rate of follicular variant morphology is increasing, according to a recent study, 29 though this may be linked to higher rates of RAS mutations, which were not detected in any of our pediatric patients. Solid variant carcinoma, which has been associated with young age, 18 was not seen in any pediatric patients.…”

“…Between 37% and 52% of PTCs have been linked to the specific BRAF mutation V600E, and clinical correlations support that this foretells a more aggressive disease course in adults. [6][7][8][9] The incidence of this BRAF mutation in the pediatric population is thought to be lower than in adults with rates of 0% to 37%, 10-15 though 1 recent series 16 revealed a rate of 63%. The rearrangement mutations of RET are also considered a major contributor to PTC tumorigenesis, but rates of this mutation have fluctuated widely in reported series.…”

Are we really at the dawn of understanding sporadic pediatric thyroid carcinoma?

“…Despite a more advanced disease at presentation and a higher risk of recurrence, the prognosis of childhood DTC is generally fairly good. The reported mortality rate is low or even zero in some series (Newman et al 1998, Alessandri et al 2000, Henke et al 2014. For this reason, the ATA guideline for children with thyroid nodules and DTC developed recommendations based on the available scientific evidence and expert opinion (Francis et al 2015).…”

“…Recently, a group reported a high prevalence (63%) of BRAF V600E mutation in pediatric PTC (Henke et al 2014). The median age of patients enrolled in this study was 18.6 years and the number of patients younger than 10 years old and their BRAF mutation status were not mentioned.…”