Dr Riedel on Specialists Involved in PEComa Diagnosis

Once a diagnosis [of PEComa] is made, then referral to an individual with expertise is appropriate, and that typically is an individual in a center with sarcoma expertise.

Richard F. Riedel, MD, a professor of medicine in the Department of Medicine at the Duke University School of Medicine, as well as a member of the Duke Cancer Institute, discussed diagnostic approaches for perivascular epithelioid cell tumor (PEComa), along with referral and treatment considerations following diagnosis.

Riedel explained that the diagnosis of PEComa is often initiated by presenting symptoms, although these tumors are frequently identified incidentally following evaluation of a mass. A common clinical scenario involves a uterine lesion, where PEComa may initially be misinterpreted as a benign fibroid or another gynecologic malignancy. In such cases, surgical intervention, such as hysterectomy, can lead to the definitive pathologic diagnosis of PEComa. However, Riedel stressed that PEComas are not confined to the uterus; they may arise in diverse anatomic locations, including the abdominal and thoracic cavities, and potentially anywhere in the body.

Given this variability in presentation and location, Riedel underscored the importance of referral to clinicians with sarcoma expertise once the diagnosis is established. Management typically involves a multidisciplinary approach at specialized centers.

The initial priority is comprehensive staging to determine the extent of disease, he continued. This includes evaluation of the primary tumor site, as well as assessment for distant metastases, with particular attention to the lungs, a common site of spread. Imaging studies are therefore directed at both local and systemic disease characterization.

If metastatic disease is identified, treatment planning shifts toward consideration of systemic therapy, such as sirolimus albumin-bound particles for injectable suspension (Fyarro). This agent was approved by the FDA in November 2021 for the treatment of adult patients with locally advanced unresectable or metastatic malignant PEComa. Riedel highlighted that this decision on systemic therapy requires careful clinical discussion, taking into account disease burden, distribution, and patient-specific factors, in order to guide optimal therapeutic strategy.