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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

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

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Autor(es):
Cordioli, Maria Isabel C. V. ; Moraes, Lais ; Carvalheira, Gianna ; Sisdelli, Luiza ; Alves, Maria Teresa S. ; Delcelo, Rosana ; Monte, Osmar ; Longui, Carlos A. ; Cury, Adriano N. ; Cerutti, Janete M.
Número total de Autores: 10
Tipo de documento: Artigo Científico
Fonte: CANCER MEDICINE; v. 5, n. 7, p. 1535-1541, JUL 2016.
Citações Web of Science: 10
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. (AU)

Processo FAPESP: 12/02902-9 - Investigação do papel dos microRNAs na regulação da expressão do gene C1orf24 em tumores da tiróide humana
Beneficiário:Janete Maria Cerutti
Linha de fomento: Auxílio à Pesquisa - Regular
Processo FAPESP: 13/03867-5 - Análise da variação no número de cópias (CNV) de segmentos de DNA em pacientes de uma família com síndrome nem 2ª e mutação p.G533C no gene RET: identificação de regiões associadas à gênese e progressão do carcinoma medular da tiróide
Beneficiário:Janete Maria Cerutti
Linha de fomento: Auxílio à Pesquisa - Regular
Processo FAPESP: 14/06570-6 - Sequenciamento completo do exoma, Paired-end RNA e genoma: novos insights sobre a natureza genética do câncer de tiróide na idade adulta e na faixa etária pediátrica e aplicações na prática clínica
Beneficiário:Janete Maria Cerutti
Linha de fomento: Auxílio à Pesquisa - Temático