GSE105090
Detection of novel fusion transcriptVTI1A-CFAP46 in HHC by RNA-seq
HCC is now the second-highest cause of cancer death worldwide. Recent studies have discovered a wide range of somatic mutations in HCC. These mutations involve various vital signaling pathways, such as: Wnt/ß-Catenin, p53, telomerase reverse transcriptase (TERT), chromatin remodeling, RAS/MAPK signaling, and oxidative stress. However, fusion transcripts have not been explored in HCC. To identify novel fusion transcript in HCC, in the first phase of our study, we performed targeted RNA sequencing on 6 patients with the diagnosis of HCC who underwent liver transplant (from HCC and paired non-HCC tissues). As a result of these studies, we discovered the novel fusion transcript, VTI1A-CFAP46. In the second phase of the study, we measured the expression of wild-type VTI1A in total of 21 HCC specimens (additional 13 patients) showing that 10 of 21 had up-regulation of wild-type VTI1A. VTI1A (Vesicle Transport via Interaction with t-SNARE homolog 1A) is a member of the Soluble N-ethylmaleimide-Sensitive Factor (NSF) attachment protein receptor (SNARE), which is essential for membrane trafficking and function in endocytosis, autophagy, and Golgi transport. Notably, it is known that autophagy is involved in HCC. The link between this alteration and autophagy as a potential therapeutic target in HCC patients deserves further investigation. Moreover, this study shows that fusion transcripts are worthy of additional exploration in HCC. Overall design: To identify novel fusion transcript in HCC, we performed targeted RNA sequencing on 6 paired patients with diagnosis of HCC who underwent liver transplant.(from HCC and paired non-HCC tissues)