Abstract
Thyroid cancer is the fastest increasing cancer worldwide in all age groups. Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer in both adults and children. PTC genomic landscape has been extensively studied in adults, but information regarding sporadic pediatric patients is lacking. Although BRAF V600E mutation is highly prevalent in adults, this mutation is uncommon in pediatric cases. As adult and pediatric PTC is a mitogen‐activated protein kinase‐driven cancer, this altered pathway might be activated by different genetic events. The aim of this study was to investigate the occurrence of AGK‐BRAF fusion gene, recently described in radiation‐exposed pediatric PTC, in a cohort of exclusively sporadic pediatric PTC. The series consisted of 30 pediatric PTC younger than 18 years of age at the time of diagnosis and 15 matched lymph node metastases (LNM). Primary tumors and matched LNM were screened for the presence of the AGK‐BRAF fusion transcript by RT‐PCR. To confirm the identity of the amplified products, randomly selected samples positive for the presence of the fusion transcripts were sequenced. Moreover, BRAF dual‐color, break‐apart probes confirmed BRAF rearrangement. Overall, the AGK‐BRAF fusion gene was detected in 10% (3/30) of primary tumors. For one of these cases, paired LNM was also available, which also shows the presence of AGK‐BRAF fusion gene. This study described, for the first time, the presence of AGK‐BRAF in sporadic pediatric PTC. Understanding the molecular events underlying pediatric PTC may improve preoperative diagnosis, allow molecular prognostication and define a therapeutic approach toward sporadic PTC patients.
Highlights
An increasing incidence of thyroid cancer has been reported in most populations worldwide [1, 2]
We systematically investigated the prevalence of AGK-BRAF mutation in all primary tumors and matched lymph node metastases (LNM)
The Cancer Genome Atlas (TCGA) Research Network, using different platforms combined with clinicopathological data, characterized the genomic landscape of nearly 500 papillary thyroid carcinomas (PTC) of adults
Summary
An increasing incidence of thyroid cancer has been reported in most populations worldwide [1, 2]. A rise in thyroid cancer incidence rate has been reported in pediatric patients, mainly among adolescents [3, 4]. The great majority of pediatric follicular cell-derived thyroid carcinomas are papillary thyroid carcinomas (PTC), with nearly 75–90% of cases [6]. The clinical presentation and outcomes of thyroid carcinoma differ between pediatric and adult population. Pediatric patients are more likely to present a more advanced stage of disease at diagnosis and higher risk of recurrent and persistent disease than adults, they usually have an excellent overall survival [7, 8]. A great heterogeneity within the pediatric group has been
Sign-in/Register to view highlights & summary 
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
