Abstract
To date, cancer genomic medicine, using cancer gene panel covered by health insurance from 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. We noted efficacy in two cases with advanced/recurrent uterine leiomyosarcoma using an antitumor agent selected on the basis of cancer gene panel testing results. Following uterine leiomyosarcoma diagnosis, they underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy as standard surgical treatment. After the surgical treatment, the imaging test revealed recurrent tumors; subsequently, they were treated with doxorubicin alone or doxorubicin combined with Gemzar. However, cancer genome gene panel test was performed because the malignant tumor worsened. Based on the cancer genome gene panel test results, the two cases with advanced uterine leiomyosarcoma were associated with increased tumor mutational burden (TMB) or pathogenic variants (PVs) of AKT serine/threonine kinase 1 (AKT1). 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 cases of advanced and recurrence uterine leiomyosarcoma and the latest findings.