The fusion landscape of hepatocellular carcinoma. Issue 5 (11th April 2019)

• Record Type: Journal Article
• Authors: Zhu, Chengpei; Wu, Liangcai; Lv, Yanling; Guan, Jinxia; Bai, Xue; Lin, Jianzhen; Liu, Tingting; Yang, Xiaobo; Robson, Simon C.; Sang, Xinting; Xue, Chenghai; Zhao, Haitao
• Is Part Of: Molecular oncology. Volume 13:Issue 5(2019)
• Page Start: 1214
• Page End: 1225
• Publication Date: 2019-04-11
• Subjects: biomarker -- gene fusion -- hepatocellular carcinoma -- recurrent fusion gene; Cancer -- Molecular aspects -- Periodicals; 616.994005
• DOI: 10.1002/1878-0261.12479
• Languages: English
• ISSNs: 1574-7891

Abstract

Abstract : Most cases of hepatocellular carcinoma (HCC) are already advanced at the time of diagnosis, which limits treatment options. Challenges in early‐stage diagnosis may be due to the genetic complexity of HCC. Gene fusion plays a critical function in tumorigenesis and cancer progression in multiple cancers, yet the identities of fusion genes as potential diagnostic markers in HCC have not been investigated. Here, we employed STAR‐Fusion and identified 43 recurrent fusion events in our own and four public RNA‐seq datasets. We identified 2354 different gene fusions in two hepatitis B virus (HBV)‐HCC patients. Validation analysis against the four RNA‐seq datasets revealed that only 1.8% (43/2354) were recurrent fusions. Comparison with the four fusion databases demonstrated that 19 recurrent fusions were not previously annotated to diseases and three were annotated as disease‐related fusion events. Finally, we validated six of the novel fusion events, including RP11‐476K15.1‐CTD‐2015H3.2, by RT‐PCR and Sanger sequencing of 14 pairs of HBV‐related HCC samples. In summary, our study provides new insights into gene fusions in HCC and may contribute to the development of anti‐HCC therapy. Abstract : Hepatocellular carcinoma (HCC) has a complex genetic background. This article explores the fusion landscape of HCC and validates potential fusions using publicly available RNA‐seq datasets. Here, we unveil several novel and recurrent fusions in HCC, suggesting their potential as diagnostic markers or molecular therapeutic targets.