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      Identification of Novel Fusion Transcripts in Undifferentiated Pleomorphic Sarcomas by Transcriptome Sequencing

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          Abstract

          Background/Aim: Undifferentiated pleomorphic sarcoma (UPS) is an aggressive mesenchymal neoplasm characterized by chromosomal instability. The aim of this study was to identify fusion events involved in UPS. Materials and Methods: Transcriptome sequencing was performed to search for new fusion genes in 19 UPS samples, including two paired recurrent (R) and re-recurrent (RR) samples. Results: A total of 66 fusion genes were detected. Among them, 10 novel fusion genes were further confirmed by reverse transcription polymerase chain reaction (RT-PCR) and Sanger sequencing. Retinoblastoma (RB1) fusions (2 cases) were the most recurrent fusion genes. The gene fusions RB1-RNASEH2B, RB1-FGF14-AS1, and E2F6-FKBP4 were correlated with the Rb/E2F pathway. Pseudogenes were involved in the formation of the gene fusions CIC-DUX4L8 and EIF2AK4-ANXA2P2. Importantly, targetable gene fusions (PDGFRA-MACROD2 and NCOR1-MAP2K1) were detected in UPS. Conclusion: Screening for the presence of fusion transcripts will provide vital clues to the understanding of genetic alterations and the finding of new targeted therapies for UPS.

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          Author and article information

          Journal
          Cancer Genomics Proteomics
          Cancer Genomics Proteomics
          Cancer Genomics & Proteomics
          International Institute of Anticancer Research
          1109-6535
          1790-6245
          3 September 2019
          Sep-Oct 2019
          : 16
          : 5
          : 399-408
          Affiliations
          [1 ]Department of Musculoskeletal Cancer Surgery, Fudan University Shanghai Cancer Center, Shanghai, P.R. China
          [2 ]Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, P.R. China
          [3 ]OrigiMed, Shanghai, P.R. China
          [4 ]Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, P.R. China
          [5 ]State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China
          Author notes
          Dr. Wangjun Yan, Department of Musculoskeletal Cancer Surgery, Fudan University Shanghai Cancer Center, No. 270, Dongan Road, Shanghai 200032, P.R. China. Tel/Fax: +86 2164430130 spinetumor@ 123456163.com , Dr. Xiaoying Luo, State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, No. 25, Xietu Road 2200, Shanghai 200032, P.R. China. Tel/Fax: +86 2164436795, luoxy@ 123456shsci.org
          Article
          PMC6727074 PMC6727074 6727074
          10.21873/cgp.20144
          6727074
          31467233
          63734b8d-2509-4508-a5c2-be1279e78ff8
          Copyright 2019, International Institute of Anticancer Research
          History
          : 30 June 2019
          : 4 July 2019
          Categories
          Research Article

          targetable fusion,pseudogene,RB1,fusion gene,transcriptome sequencing,undifferentiated pleomorphic sarcoma,Soft tissue sarcoma

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