Urothelial carcinoma (UC) is the most common type of bladder cancer and is the second most frequently diagnosed genitourinary tumor. The identification of fusion genes in bladder cancer might provide new perspectives for its classification and significance.
Researchers from the Research Centre for Medical Genetics, Russian Federation searched UC samples for novel fusion transcripts in bladder cancer using high-throughput RNA sequencing. They used stringent requirements for 819 fusion candidates and nominated 10 candidate fusion transcripts. Among them four novel fusion genes were validated and characterized in 48 formalin-fixed paraffin-embedded (FFPE) specimens of bladder cancer. Chromosomal rearrangements appeared to be rare or unique events because they were not detected in the 48 UC samples. Further investigation of functional and clinical relevance of novel fusion genes remains to be elucidated to reveal their role in bladder carcinogenesis.
Exon structure of novel fusion transcripts and fusion breakpoints validated by Sanger sequencing
(a) IGF1R/TTC23 fusion. (b) CASZ1/DFFA fusion. (c) SYT8/TNNI2 fusion. (d) SEPT9/CYHR fusion.