Investigator
Aichi Cancer Center
Identification of novel gene fusions in high-grade serous ovarian carcinoma: implications for tumorigenesis and targeted therapy
High-grade serous ovarian carcinoma (HGSOC) accounts for 70% of all ovarian cancer cases and 80% of related deaths. TP53 mutations are common; however, other driving genetic factors are not well understood. In this study, we used RNA sequencing to explore the genetic background of HGSOC in patients with unclear profiles. This study included 80 patients with a pathological diagnosis of HGSOC. RNA sequencing was performed to analyze gene expression and detect fusion. We identified 18 novel potential driver fusion gene candidates, including in-frame and frameshift fusions, in 80 patients with high-grade serous ovarian cancer (HGSOC). Of these, ST7-OT4::MET, STK24::DOCK9, GAB::PAK1, HDAC1::LCK, ESR1::LATS1, ZNF157::CDK16, NEK7::RP11-85M11.2, CAMKK1::R2RX1, HNRNPUL1::AXL, DYRK1A::GART, MAPKAPK2::DYRK3, and FER::GS1421I3.2 involved fusion partners harboring protein kinase domains. Notably, TAOK1::PIPOX and PSMD11::NLK were identified in the same case, similar to SH3PXD2A::BMPR1A and EIF3H::CAMK2D in another case. In addition, SLMAP::NTRK3 involves NTRK3, a known fusion partner. The remaining fusions, SWAP70::ZNF143, WDR25::YY1, and NR2F6::MYO9B, included partners with DNA-binding domains. This study identified candidate driver fusion genes and suggested new therapeutic targets for HGSOCs.
JP
