2023 Volume 60 Issue 5 Pages 312-319
The discovery of sarcoma-specific fusion genes in the 1980s was a major breakthrough in sarcoma research. To date, a variety of sarcoma-specific fusion genes have been identified, which have greatly improved the accuracy of pathological diagnoses. However, the absence of blood-based biomarkers has been a major hindrance to monitor tumor burden. In recent years, attempts have been made to develop liquid biopsies using circulating molecules such as nucleic acids and extracellular vesicles. cf-miRNA was first detected in sarcoma patients by Miyachi et al. Although ctDNA-based methods have recently been approved, these problems include poor sensitivity, high cost, and relatively long turnaround time. Recent advancements in treatment include approvals for the use of targeted agents such as pazopanib, eribulin, and trabectedin for advanced soft-tissue sarcomas. For advanced osteosarcoma and Ewing’s sarcoma, molecular target drugs, including cabozantinib, have been shown to be effective in Western countries but have not yet been approved in Japan. Cancer gene profile testing has brought attention to a wider indication for treatments based on specific genetic abnormalities in sarcomas. Although immune checkpoint inhibitors against sarcomas have not been satisfactory, efforts are being made to develop treatments targeting other immune cells in the sarcoma microenvironment. This article provides an overview of current topics in sarcoma research.