AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma
Autor(a) principal: | |
---|---|
Data de Publicação: | 2016 |
Outros Autores: | , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | https://repositorio.unifesp.br/handle/11600/57666 http://dx.doi.org/10.1002/cam4.698 |
Resumo: | 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. |
id |
UFSP_6940f381b6f702011abc02a5ce52801a |
---|---|
oai_identifier_str |
oai:repositorio.unifesp.br:11600/57666 |
network_acronym_str |
UFSP |
network_name_str |
Repositório Institucional da UNIFESP |
repository_id_str |
3465 |
spelling |
Cordioli, Maria Isabel C. V. [UNIFESP]Moraes, Lais [UNIFESP]Carvalheira, Gianna [UNIFESP]Sisdelli, Luiza [UNIFESP]Alves, Maria Teresa S. [UNIFESP]Delcelo, Rosana [UNIFESP]Monte, OsmarLongui, Carlos A.Cury, Adriano N.Cerutti, Janete M. [UNIFESP]2020-08-14T13:44:26Z2020-08-14T13:44:26Z2016Cancer Medicine. Hoboken, v. 5, n. 7, p. 1535-1541, 2016.2045-7634https://repositorio.unifesp.br/handle/11600/57666http://dx.doi.org/10.1002/cam4.698WOS000380048900020.pdf10.1002/cam4.698WOS:000380048900020Thyroid 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.Sao Paulo State Research Foundation (FAPESP)CNPqFAPESP scholarUniv Fed Sao Paulo, Dept Morphol & Genet, Div Genet, Genet Bases Thyroid Tumors Lab, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Pathol, Sao Paulo, SP, BrazilIrmandade Santa Casa Misericordia Sao Paulo, Dept Pediat, Sao Paulo, SP, BrazilIrmandade Santa Casa Misericordia Sao Paulo, Dept Med, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Morphol & Genet, Div Genet, Genet Bases Thyroid Tumors Lab, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Pathol, Sao Paulo, SP, BrazilFAPESP: 2012/02902-9FAPESP: 2013/03867-5FAPESP: 2014/06570-6CNPq: 470441/2013-5Web of Science1535-1541engWiley-BlackwellCancer MedicineAGK-BRAFBRAF V600Epapillary thyroid carcinomapediatric thyroid cancersporadic thyroid carcinomaAGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinomainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleHoboken57info:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESPORIGINALWOS000380048900020.pdfapplication/pdf160430${dspace.ui.url}/bitstream/11600/57666/1/WOS000380048900020.pdf15be72c60dc5d2a14a5c8f595c29d997MD51open accessTEXTWOS000380048900020.pdf.txtWOS000380048900020.pdf.txtExtracted texttext/plain28518${dspace.ui.url}/bitstream/11600/57666/2/WOS000380048900020.pdf.txt0bf09dc91eee24a2239935cc93e4d768MD52open accessTHUMBNAILWOS000380048900020.pdf.jpgWOS000380048900020.pdf.jpgIM Thumbnailimage/jpeg7269${dspace.ui.url}/bitstream/11600/57666/4/WOS000380048900020.pdf.jpg6f6a80bac1d935e601d3a3a6a5300863MD54open access11600/576662022-07-31 20:24:24.71open accessoai:repositorio.unifesp.br:11600/57666Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652022-07-31T23:24:24Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma |
title |
AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma |
spellingShingle |
AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma Cordioli, Maria Isabel C. V. [UNIFESP] AGK-BRAF BRAF V600E papillary thyroid carcinoma pediatric thyroid cancer sporadic thyroid carcinoma |
title_short |
AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma |
title_full |
AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma |
title_fullStr |
AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma |
title_full_unstemmed |
AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma |
title_sort |
AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma |
author |
Cordioli, Maria Isabel C. V. [UNIFESP] |
author_facet |
Cordioli, Maria Isabel C. V. [UNIFESP] Moraes, Lais [UNIFESP] Carvalheira, Gianna [UNIFESP] Sisdelli, Luiza [UNIFESP] Alves, Maria Teresa S. [UNIFESP] Delcelo, Rosana [UNIFESP] Monte, Osmar Longui, Carlos A. Cury, Adriano N. Cerutti, Janete M. [UNIFESP] |
author_role |
author |
author2 |
Moraes, Lais [UNIFESP] Carvalheira, Gianna [UNIFESP] Sisdelli, Luiza [UNIFESP] Alves, Maria Teresa S. [UNIFESP] Delcelo, Rosana [UNIFESP] Monte, Osmar Longui, Carlos A. Cury, Adriano N. Cerutti, Janete M. [UNIFESP] |
author2_role |
author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Cordioli, Maria Isabel C. V. [UNIFESP] Moraes, Lais [UNIFESP] Carvalheira, Gianna [UNIFESP] Sisdelli, Luiza [UNIFESP] Alves, Maria Teresa S. [UNIFESP] Delcelo, Rosana [UNIFESP] Monte, Osmar Longui, Carlos A. Cury, Adriano N. Cerutti, Janete M. [UNIFESP] |
dc.subject.eng.fl_str_mv |
AGK-BRAF BRAF V600E papillary thyroid carcinoma pediatric thyroid cancer sporadic thyroid carcinoma |
topic |
AGK-BRAF BRAF V600E papillary thyroid carcinoma pediatric thyroid cancer sporadic thyroid carcinoma |
description |
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. |
publishDate |
2016 |
dc.date.issued.fl_str_mv |
2016 |
dc.date.accessioned.fl_str_mv |
2020-08-14T13:44:26Z |
dc.date.available.fl_str_mv |
2020-08-14T13:44:26Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
Cancer Medicine. Hoboken, v. 5, n. 7, p. 1535-1541, 2016. |
dc.identifier.uri.fl_str_mv |
https://repositorio.unifesp.br/handle/11600/57666 http://dx.doi.org/10.1002/cam4.698 |
dc.identifier.issn.none.fl_str_mv |
2045-7634 |
dc.identifier.file.none.fl_str_mv |
WOS000380048900020.pdf |
dc.identifier.doi.none.fl_str_mv |
10.1002/cam4.698 |
dc.identifier.wos.none.fl_str_mv |
WOS:000380048900020 |
identifier_str_mv |
Cancer Medicine. Hoboken, v. 5, n. 7, p. 1535-1541, 2016. 2045-7634 WOS000380048900020.pdf 10.1002/cam4.698 WOS:000380048900020 |
url |
https://repositorio.unifesp.br/handle/11600/57666 http://dx.doi.org/10.1002/cam4.698 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.none.fl_str_mv |
Cancer Medicine |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
1535-1541 |
dc.coverage.none.fl_str_mv |
Hoboken |
dc.publisher.none.fl_str_mv |
Wiley-Blackwell |
publisher.none.fl_str_mv |
Wiley-Blackwell |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
instacron_str |
UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
collection |
Repositório Institucional da UNIFESP |
bitstream.url.fl_str_mv |
${dspace.ui.url}/bitstream/11600/57666/1/WOS000380048900020.pdf ${dspace.ui.url}/bitstream/11600/57666/2/WOS000380048900020.pdf.txt ${dspace.ui.url}/bitstream/11600/57666/4/WOS000380048900020.pdf.jpg |
bitstream.checksum.fl_str_mv |
15be72c60dc5d2a14a5c8f595c29d997 0bf09dc91eee24a2239935cc93e4d768 6f6a80bac1d935e601d3a3a6a5300863 |
bitstream.checksumAlgorithm.fl_str_mv |
MD5 MD5 MD5 |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
|
_version_ |
1802764111236300800 |