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

Genes Chromosomes Cancer. 2019 Aug;58(8):558-566. doi: 10.1002/gcc.22737. Epub 2019 Feb 18.


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.

Keywords: RNA-Seq; papillary thyroid carcinoma; rearrangement; transcript fusion.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Biomarkers, Tumor*
  • Female
  • Humans
  • Male
  • Oncogene Proteins, Fusion / genetics*
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics*
  • Receptor, trkA / genetics*
  • Sequence Analysis, DNA
  • Thyroid Cancer, Papillary / diagnosis
  • Thyroid Cancer, Papillary / genetics*
  • Transcription Factors / genetics*
  • Tumor Burden
  • Young Adult


  • Biomarkers, Tumor
  • Oncogene Proteins, Fusion
  • TRIM33 protein, human
  • Transcription Factors
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1
  • Receptor, trkA