Laparoscopic resection of liver PEComa associated with Li‑Fraumeni syndrome: A case report.

Abstract

Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome associated with germline mutations in tumor suppressor gene TP53. Perivascular epithelioid cell tumors (PEComas) are a group of tumors by the World Health Organization Classification as mesenchymal tumors composed of histologically and immunohistochemically distinctive PECs. The present study reports a rare case of PEComa associated with LFS. A 32-year-old female patient was referred to Tokyo Metropolitan Tama Medical Center (Tokyo, Japan) in March 2022 for a detailed examination of a liver mass. The patient had received a diagnosis of LFS based on a history of sarcoma and germline variants of TP53 7 years previously. Magnetic resonance imaging revealed a ring-enhanced mass in the liver segment 8 (S8). This was observed in the arterial phase, followed by washout of contrast media in the venous phase. Owing to the possibility of malignancy (such as metastatic liver tumor or hepatocellular carcinoma), the patient was referred for diagnostic surgery. In August 2022, a laparoscopic partial hepatectomy of S8 was performed without complications and she was discharged on postoperative day 7. The pathological findings led to the diagnosis of PEComa. The patient is currently under follow-up at 1 year and 4 months postoperative. Laparoscopic hepatectomy was useful as a diagnostic treatment because it was relatively non-invasive. Mutations in TP53 are involved in the development of PEComa. Further cases and studies are required to clarify the relationship between LFS and PEComa.