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Cancer Medicine
Article . 2016 . Peer-reviewed
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Cancer Medicine
Article
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Cancer Medicine
Article . 2017
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PubMed Central
Other literature type . 2016
Data sources: PubMed Central
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AGK‐BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma

Authors: 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; +3 Authors

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

Abstract

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.

Country
Brazil
Keywords

Male, Proto-Oncogene Proteins B-raf, Adolescent, Oncogene Proteins, Fusion, 610, pediatric thyroid cancer, Translocation, Genetic, Humans, Angiopoietin-Like Protein 6, Thyroid Neoplasms, Neoplasm Metastasis, Child, In Situ Hybridization, Fluorescence, Neoplasm Staging, sporadic thyroid carcinoma, BRAF V600E, Clinical Cancer Research, AGK-BRAF, Carcinoma, Papillary, Angiopoietin-like Proteins, Thyroid Cancer, Papillary, Child, Preschool, Lymphatic Metastasis, Mutation, papillary thyroid carcinoma, Female, Neoplasm Recurrence, Local

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
25
Top 10%
Top 10%
Top 10%
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