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AGK‐BRAF is associated with distant metastasis and younger age in pediatric papillary thyroid carcinoma
Author(s) -
Sisdelli Luiza,
Cordioli Maria Isabel Cunha Vieira,
Vaisman Fernanda,
Moraes Lais,
ColozzaGama Gabriel Avelar,
Alves Paulo Alonso G.,
Araújo Mario Lucio,
Alves Maria Teresa Seixas,
Monte Osmar,
Longui Carlos Alberto,
Cury Adriano Namo,
Carvalheira Gianna,
Cerutti Janete Maria
Publication year - 2019
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27707
Subject(s) - medicine , thyroid carcinoma , incidence (geometry) , sanger sequencing , oncology , cancer research , mutation , v600e , thyroid , gene , biology , genetics , physics , optics
Background The incidence of thyroid carcinoma has increased in most populations, including pediatric patients. The increase is almost exclusively due to an increase in the incidence of papillary thyroid carcinoma (PTC). Genetic alterations leading to mitogen‐activated protein kinase (MAPK) pathway activation are highly prevalent in PTC, with BRAF V600E mutation being the most common event in adult PTC. Although a lower prevalence of BRAF V600E had been reported among pediatric patients, a higher prevalence of BRAF fusion has been identified in both radiation‐exposed and sporadic pediatric PTC. However, little is known about the prognostic implications of BRAF fusions in pediatric PTC. Procedure In this study, we investigated the prevalence of BRAF alterations ( AGK‐BRAF fusion and BRAF V600E mutation) in a large set of predominantly sporadic pediatric PTC cases and correlate with clinicopathological features. Somatic AGK‐BRAF fusion was investigated by RT‐PCR and confirmed by FISH break‐apart. The BRAF V600E mutation was screened using Sanger sequencing. Results AGK‐BRAF fusion, found in 19% of pediatric PTC patients, was associated with distant metastasis and younger age. Conversely, the BRAF V600E, found in 15% of pediatric PTC patients, was correlated with older age and larger tumor size. Conclusion Collectively, our results advance knowledge concerning genetic bases of pediatric thyroid carcinoma, with potential implications for diagnosis, prognosis, and therapeutic approaches.