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

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dc.contributor.author Cordioli, Maria Isabel C. V. [UNIFESP]
dc.contributor.author Moraes, Lais [UNIFESP]
dc.contributor.author Carvalheira, Gianna [UNIFESP]
dc.contributor.author Sisdelli, Luiza [UNIFESP]
dc.contributor.author Alves, Maria Teresa S. [UNIFESP]
dc.contributor.author Delcelo, Rosana [UNIFESP]
dc.contributor.author Monte, Osmar
dc.contributor.author Longui, Carlos A.
dc.contributor.author Cury, Adriano N.
dc.contributor.author Cerutti, Janete M. [UNIFESP]
dc.date.accessioned 2020-08-14T13:44:26Z
dc.date.available 2020-08-14T13:44:26Z
dc.date.issued 2016
dc.identifier http://dx.doi.org/10.1002/cam4.698
dc.identifier.citation Cancer Medicine. Hoboken, v. 5, n. 7, p. 1535-1541, 2016.
dc.identifier.issn 2045-7634
dc.identifier.uri https://repositorio.unifesp.br/handle/11600/57666
dc.description.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. en
dc.description.sponsorship Sao Paulo State Research Foundation (FAPESP)
dc.description.sponsorship CNPq
dc.description.sponsorship FAPESP scholar
dc.format.extent 1535-1541
dc.language.iso eng
dc.publisher Wiley-Blackwell
dc.relation.ispartof Cancer Medicine
dc.rights Acesso aberto
dc.subject AGK-BRAF en
dc.subject BRAF V600E en
dc.subject papillary thyroid carcinoma en
dc.subject pediatric thyroid cancer en
dc.subject sporadic thyroid carcinoma en
dc.title AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma en
dc.type Artigo
dc.description.affiliation Univ Fed Sao Paulo, Dept Morphol & Genet, Div Genet, Genet Bases Thyroid Tumors Lab, Sao Paulo, SP, Brazil
dc.description.affiliation Univ Fed Sao Paulo, Dept Pathol, Sao Paulo, SP, Brazil
dc.description.affiliation Irmandade Santa Casa Misericordia Sao Paulo, Dept Pediat, Sao Paulo, SP, Brazil
dc.description.affiliation Irmandade Santa Casa Misericordia Sao Paulo, Dept Med, Sao Paulo, SP, Brazil
dc.description.affiliationUnifesp Univ Fed Sao Paulo, Dept Morphol & Genet, Div Genet, Genet Bases Thyroid Tumors Lab, Sao Paulo, SP, Brazil
dc.description.affiliationUnifesp Univ Fed Sao Paulo, Dept Pathol, Sao Paulo, SP, Brazil
dc.description.sponsorshipID FAPESP: 2012/02902-9
dc.description.sponsorshipID FAPESP: 2013/03867-5
dc.description.sponsorshipID FAPESP: 2014/06570-6
dc.description.sponsorshipID CNPq: 470441/2013-5
dc.identifier.file WOS000380048900020.pdf
dc.identifier.doi 10.1002/cam4.698
dc.description.source Web of Science
dc.identifier.wos WOS:000380048900020
dc.coverage Hoboken
dc.citation.volume 5
dc.citation.issue 7



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