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

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dc.citation.issue7
dc.citation.volume5
dc.contributor.authorCordioli, Maria Isabel C. V. [UNIFESP]
dc.contributor.authorMoraes, Lais [UNIFESP]
dc.contributor.authorCarvalheira, Gianna [UNIFESP]
dc.contributor.authorSisdelli, Luiza [UNIFESP]
dc.contributor.authorAlves, Maria Teresa S. [UNIFESP]
dc.contributor.authorDelcelo, Rosana [UNIFESP]
dc.contributor.authorMonte, Osmar
dc.contributor.authorLongui, Carlos A.
dc.contributor.authorCury, Adriano N.
dc.contributor.authorCerutti, Janete M. [UNIFESP]
dc.coverageHoboken
dc.date.accessioned2020-08-14T13:44:26Z
dc.date.available2020-08-14T13:44:26Z
dc.date.issued2016
dc.description.abstractThyroid 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.affiliationUniv Fed Sao Paulo, Dept Morphol & Genet, Div Genet, Genet Bases Thyroid Tumors Lab, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Dept Pathol, Sao Paulo, SP, Brazil
dc.description.affiliationIrmandade Santa Casa Misericordia Sao Paulo, Dept Pediat, Sao Paulo, SP, Brazil
dc.description.affiliationIrmandade Santa Casa Misericordia Sao Paulo, Dept Med, Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Morphol & Genet, Div Genet, Genet Bases Thyroid Tumors Lab, Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Pathol, Sao Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipSao Paulo State Research Foundation (FAPESP)
dc.description.sponsorshipCNPq
dc.description.sponsorshipFAPESP scholar
dc.description.sponsorshipIDFAPESP: 2012/02902-9
dc.description.sponsorshipIDFAPESP: 2013/03867-5
dc.description.sponsorshipIDFAPESP: 2014/06570-6
dc.description.sponsorshipIDCNPq: 470441/2013-5
dc.format.extent1535-1541
dc.identifierhttp://dx.doi.org/10.1002/cam4.698
dc.identifier.citationCancer Medicine. Hoboken, v. 5, n. 7, p. 1535-1541, 2016.
dc.identifier.doi10.1002/cam4.698
dc.identifier.fileWOS000380048900020.pdf
dc.identifier.issn2045-7634
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/57666
dc.identifier.wosWOS:000380048900020
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofCancer Medicine
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectAGK-BRAFen
dc.subjectBRAF V600Een
dc.subjectpapillary thyroid carcinomaen
dc.subjectpediatric thyroid canceren
dc.subjectsporadic thyroid carcinomaen
dc.titleAGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinomaen
dc.typeinfo:eu-repo/semantics/article
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