Genomic profiling and molecular pathogenesis of soft tissue and bone tumours

Management of Japan Sarcoma Genome Consortium (JSGC)

In 2014, Japan Sarcoma Genome Consortium (JSGC) was established to promote genomic research of bone and soft-tissue tumours. We are currently participating Genome Research in Cancers and Rare Diseases (G-CARD) project under the AMED Program of Practical Research for Innovative Cancer Control Innovative from FY2021, and conducting a whole genome sequencing (WGS) research of bone and soft tissue tumors. To date, WGS was conducted in 698 cases of tumor and normal paired samples. Currently, we are proceeding with a cross-sectional analysis of tissue types, and have also started analysis by tissue type.

Figure 7 Collaborating hospitals and research institutes in JSGC

Comprehensive genomic analysis of dedifferentiated liposarcoma (DDLPS)

We conducted large-scale genomic analysis in 115 dedifferentiated liposarcoma (DDLPS) tumors revealed the mechanisms underlying the development and progression of DDLPS.

Figure 8 Mutational landscape of DDLPS