Japan Society for the Promotion of Science:Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (A)
Date (from‐to) : 2016/04 -2021/03
Author : Matsuda Koichi
In this research project, we conduced genome analysis and functional analysis of bone and soft tissue tumors to elucidate their molecular pathogenesis and developing new therapeutics. Through a collaborative network of Japan sarcoma genome consortium consisting of 28 medical institutions and 14 research institutes, pairs of tumor and normal tissue of 20 target diseases (dedifferentiated liposarcoma, giant synovial cell tumor, epithelial sarcoma, and osteoblastoma etc) were collected and RNA sequence and whole exome sequence of more than 400 samples was performed. As a result, CTDSP1 / 2-DNM3OS fusion (dedifferentiated liposarcoma) was identified as a disease-specific fusion gene. We also identified frequent CBL mutations in tenosynovial giant cell tumors and useful prognostic markers for Desmoid tumors.