AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma

AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma

Author Cordioli, Maria Isabel C. V. Autor UNIFESP Google Scholar
Moraes, Lais Autor UNIFESP Google Scholar
Carvalheira, Gianna Autor UNIFESP Google Scholar
Sisdelli, Luiza Autor UNIFESP Google Scholar
Alves, Maria Teresa S. Autor UNIFESP Google Scholar
Delcelo, Rosana Autor UNIFESP Google Scholar
Monte, Osmar Google Scholar
Longui, Carlos A. Google Scholar
Cury, Adriano N. Google Scholar
Cerutti, Janete M. Autor UNIFESP Google Scholar
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.
Keywords AGK-BRAF
BRAF V600E
papillary thyroid carcinoma
pediatric thyroid cancer
sporadic thyroid carcinoma
xmlui.dri2xhtml.METS-1.0.item-coverage Hoboken
Language English
Sponsor Sao Paulo State Research Foundation (FAPESP)
CNPq
FAPESP scholar
Grant number FAPESP: 2012/02902-9
FAPESP: 2013/03867-5
FAPESP: 2014/06570-6
CNPq: 470441/2013-5
Date 2016
Published in Cancer Medicine. Hoboken, v. 5, n. 7, p. 1535-1541, 2016.
ISSN 2045-7634 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 1535-1541
Origin http://dx.doi.org/10.1002/cam4.698
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000380048900020
URI https://repositorio.unifesp.br/handle/11600/57666

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