AUTHOR=Wang Guannan , Sun Lili , Guan Jian , Yang Boyan 

TITLE=PEComa progressed by mTOR inhibitor therapy with anti-VEGFR TKI combined with PD-1 inhibitor: a case report

JOURNAL=Frontiers in Oncology

VOLUME=Volume 15 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2025.1628650

DOI=10.3389/fonc.2025.1628650

ISSN=2234-943X

ABSTRACT=Malignant perivascular epithelioid cell tumors (PEComas) are rare tumors in which the PI3K/AKT/mTOR pathway is critical for pathogenesis and is often associated with mutations in the TSC1/TSC2 genes. First-line mTOR inhibitors are an effective treatment, but metastatic PEComas eventually develop drug resistance and disease progression. A 76-year-old woman presenting with a painful soft tissue mass in the buttocks was diagnosed with malignant PEComa with local invasion and multiple distant metastases, and the tumor cells harbored a TSC2 gene mutation. After disease progression by mTOR inhibitor treatment, immunotherapy combined with anti-angiogenic therapy was enabled, which enabled the patient to achieve a 3-year survival benefit and provided a reference for the treatment of patients with refractory malignant PEComa.