Navigating Diagnostic Challenges in Uterine PEComa: A Case Report and Mini Review of the Literature

Stylianos Sergios Chatziioannou^1,2, Evangelia Mavromati³, Artemis Stylianidou³, Chrisostomos Sofoudis^2*
1European University of Cyprus, School of Medicine, Nicosia, Cyprus.
²1^st Department of Obstetrics and Gynecology, Elena Venizelou, Maternity Hospital, Elena Venizelou, Athens, Greece.
³Department of Pathology, Elena Venizelou, Maternity Hospital, Elena Venizelou, Athens, Greece.

Correspondence to: Chrisostomos Sofoudis, 1^st Department of Obstetrics and Gynecology, Elena Venizelou, Maternity Hospital, Elena Venizelou, Athens, Greece.
Received date: April 06, 2025; Accepted date: April 21, 2025; Published date: April 28, 2025
Citation: Chatziioannou SS, Mavromati E, Stylianidou A, et al. Navigating Diagnostic Challenges in Uterine PEComa: A Case Report and Mini Review of the Literature. J Obst Gynecol Surg. 2025;6(1):1-5. doi:10.52916/jogs254040
Copyright: ©2025 Chatziioannou SS, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.

Abstract

Perivascular epithelioid cell tumors (PEComas) represent rare mesenchymal neoplasms with dual myomelanocytic differentiation.

We report a case of a uterine PEComa in a female patient presenting with chronic abnormal vaginal bleeding initially attributed to leiomyoma. The patient underwent abdominal excision of the leiomyoma, and gross examination revealed a well-circumscribed, ovoid mass measuring 6.3 cm.

Histopathological evaluation showed a mesenchymal neoplasm with mild cytologic atypia, low mitotic activity (<1 per 50 high power fields), and no necrosis. Immunohistochemistry demonstrated positivity for smooth muscle markers (SMA, Desmin, Calponin, Caldesmon) and HMB-45, along with ER and PR, while Melan-A and other markers were negative. These findings support a diagnosis of uterine PEComa with uncertain malignant potential, as defined by Modified Specific Gynecologic Criteria and WHO 2020 guidelines.

A literature review was conducted to elucidate the clinical, radiological, and pathological characteristics of uterine PEComas. Although many uterine PEComas are benign, features such as tumor size exceeding 5 cm and infiltrative growth may indicate a risk for aggressive behavior. Surgical resection remains the primary treatment for localized disease, while emerging targeted therapies, including mTOR inhibitors, show promise for advanced cases.

This case highlights the diagnostic challenges of uterine PEComas, given their radiological resemblance to leiomyomas and other sarcomas, emphasizing the need for a multidisciplinary approach for accurate diagnosis and management.

Keywords:

Uterine PEComa, Mesenchymal neoplasm, Immunohistochemistry, mTOR inhibitors, Uncertain malignant potential.

Funding

None

Refernces

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