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Genes Chromosomes Cancer. 2019 Jan 21. doi: 10.1002/gcc.22737. [Epub ahead of print]

Novel TG-FGFR1 and TRIM33-NTRK1 transcript fusions in papillary thyroid carcinoma.

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Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Institute - Oncology Center, Gliwice Branch, Poland.
Department of Oncological and Reconstructive Surgery, Maria Sklodowska-Curie Institute - Oncology Center, Gliwice Branch, Poland.
Tumor Pathology Department, Maria Sklodowska-Curie Institute - Oncology Center, Gliwice Branch, Poland.
Laboratory of Molecular Neurobiology, Neurobiology Center, Nencki Institute of Experimental Biology, Warsaw, Poland.
Faculty of Automatic Control, Electronics and Computer Science, Silesian University of Technology, Gliwice, Poland.


Papillary thyroid carcinoma (PTC) is most common among all thyroid cancers. Multiple genomic alterations occur in PTC, and gene rearrangements are one of them. Here we screened 14 tumors for novel fusion transcripts by RNA-Seq. Two samples harboring RET/PTC1 and RET/PTC3 rearrangements were positive controls whereas the remaining ones were negative regarding the common PTC alterations. We used Sanger sequencing to validate potential fusions. We detected two novel potentially oncogenic transcript fusions: TG-FGFR1 and TRIM33-NTRK1. We detected four novel fusion transcripts of unknown significance accompanying the TRIM33-NTRK1 fusion: ZSWIM5-TP53BP2, TAF4B-WDR1, ABI2-MTA3 and ARID1B-PSMA1. Apart from confirming the presence of RET/PTC1 and RET/PTC3 in positive control samples, we also detected known oncogenic fusion transcripts in remaining samples: TFG-NTRK1, ETV6-NTRK3, MKRN1-BRAF, EML4-ALK and novel isoform of CCDC6-RET. This article is protected by copyright. All rights reserved.


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