Abstract
To date, cancer genomic medicine, using cancer gene panel covered by health insurance in June 2019, has been performed for advanced malignant tumors under public medical insurance. In gynecology, the first-line treatment for uterine leiomyosarcomas, which is a mesenchymal uterine tumor, is surgery. In uterine leiomyosarcoma cases, recurrence is observed within 2 years postoperatively; however, to date, clinical trials have not shown efficacy with existing antitumor agents. Currently, two cases of advanced uterine leiomyosarcomas have been associated with increased tumor mutation burden (TMB) or pathogenic variants (PVs) in the AKT serine/threonine kinase 1 (AKT). Therefore, treatment with pembrolizumab, which is a drug covered by insurance for patients with TMB high, or treatment with kinase inhibitors for patients with PVs in AKT, was considered. Cancer genomic medicine using cancer gene panel provides a new treatment strategy for intractable malignant tumors. This study aimed to discuss the usefulness of cancer genomic medicine by cancer gene panel testing using the case of advanced and recurrence uterine leiomyosarcoma and the latest findings.