Journal
GENES CHROMOSOMES & CANCER
Volume 58, Issue 8, Pages 558-566Publisher
WILEY
DOI: 10.1002/gcc.22737
Keywords
papillary thyroid carcinoma; rearrangement; RNA-Seq; transcript fusion
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Funding
- Slaska BIO-FARMA. Centrum Biotechnologii, Bioinzynierii i Bioinformatyki [POIG.02.01.00-00-166/08]
- Polish National Center of Research and Development [STRATEGMED2/267398/4/NCBR/2015]
- PL-Grid Infrastructure
- Polish National Science Center [DEC-2011/03/N/NZ2/03495]
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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 2 novel potentially oncogenic transcript fusions: TG-FGFR1 and TRIM33-NTRK1. We detected 4 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.
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