PEComa with metastatic pulmonary embolism upon presentation: A case report.

Area of Science:

• Oncology
• Pathology
• Radiology

Background:

• Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms with overlapping features with other tumors.
• PEComas predominantly affect women, often arise from the genitourinary tract, and can be linked to tuberous sclerosis.
• Malignant potential is assessed by size, mitotic activity, necrosis, and vascular invasion; treatment includes resection and mTOR inhibitors.

Observation:

• A 69-year-old woman presented with dyspnea, a renal mass, liver lesion, lung nodules, and pulmonary embolism.
• FDG-PET-CT confirmed metabolically active lesions and suggested malignant origin of pulmonary emboli.
• Liver biopsy diagnosed malignant PEComa; MRI revealed characteristic imaging findings.

Findings:

• Malignant PEComa was diagnosed in a 69-year-old woman with metastatic disease.
• Treatment with Everolimus (an mTOR inhibitor) resulted in partial response of all lesions.
• The case highlights metastatic pulmonary embolism as an initial presentation of PEComa.

Implications:

• PEComas present diagnostic challenges due to nonspecific imaging and varied presentations.
• This case underscores the aggressive potential of PEComas and the efficacy of mTOR inhibitors.
• Multidisciplinary management, long-term surveillance, early biopsy, and molecular profiling are crucial for optimizing outcomes in PEComa patients.