Osteosarcoma (OS), the most common primary malignant bone tumor, accounts for approximately 1 % of all cancers [1]. The incidence of OS shows a bimodal distribution, with one peak in childhood/adolescence and another in patients older than 50 years [1]. Current standard therapies, including combined chemotherapy and surgical resection, were originally developed in the 1980s, and have significantly improved the 5-year disease-free survival rate of patients with OS to approximately 70 % [2]. Furthermore, the response to preoperative combination chemotherapy is significantly associated with outcomes in patients with localized disease [2,3]. Although the survival rate has increased with combined treatments, 20–30 % of patients remain refractory to conventional treatment, and the survival rate has remained unchanged for the past 30 years [4]. Patients with unresectable primary tumors or metastases continue to have poor outcomes [2,3].

Next-generation sequencing (NGS) technology, which has allowed for the comprehensive study of cancer-related genes, has opened new avenues in treatment modalities for a variety of tumor types [5]. To guide clinical treatment decisions, cancer gene panels encompassing known and potentially targetable driver mutations are attracting increasing attention. The implementation of precision medicine for the treatment of rare tumors, such as OS has been difficult and unusual because of the lack of driver mutations in well-established targets such as tyrosine kinases. However, multiple cancer gene panels are routinely used in bone and soft tissue sarcomas, because potentially targetable alterations, including tyrosine kinases harboring neurotrophic receptor tyrosine kinase (NTRK) fusion have been detected recently [[4], [6]]. Some large-scale studies that employed multiple cancer gene panels revealed the genomic landscape and novel therapeutic targets of OSs, primarily within US cohorts [[7], [8], [9]]. However, the genomic landscape of OS in Japanese cohorts has remained understudied. In the present study, we analyzed the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) database of a Japanese group of patients with OS using multiple cancer gene panels to identify potential somatic actionable alterations that can be classified using the CKDB, and compared the genomic landscape to US data, especially the Memorial Sloan-Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT) [10].