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

Area of Science:

• Oncology
• Genomics
• Molecular Biology

Background:

• Papillary thyroid carcinoma (PTC) is the most prevalent form of thyroid cancer.
• Genomic alterations, including gene rearrangements, are significant drivers in PTC development.
• Identifying novel fusion transcripts is crucial for understanding PTC pathogenesis.

Purpose of the Study:

• To screen for and identify novel gene fusion transcripts in papillary thyroid carcinoma.
• To validate the identified fusion transcripts using Sanger sequencing.
• To investigate the potential oncogenic role of newly discovered fusions.

Main Methods:

• RNA sequencing (RNA-Seq) was employed to screen 14 PTC tumor samples.
• Sanger sequencing was utilized for the validation of potential fusion transcripts.
• Samples included positive controls for known RET/PTC rearrangements.

Main Results:

• Two novel potentially oncogenic transcript fusions, TG-FGFR1 and TRIM33-NTRK1, were detected.
• Four additional novel fusion transcripts of unknown significance were identified alongside TRIM33-NTRK1.
• Known oncogenic fusions (TFG-NTRK1, ETV6-NTRK3, MKRN1-BRAF, EML4-ALK) and a novel CCDC6-RET isoform were also found.

Conclusions:

• The study successfully identified novel potentially oncogenic and other fusion transcripts in PTC.
• These findings expand the landscape of known genetic alterations in thyroid cancer.
• The discovered fusions represent potential targets for future research and therapeutic strategies in PTC.