Malignant perivascular epithelioid cell tumor in the female genital tract

Abstract

Background:Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor, located at various anatomic sites, including the female genital tract. This study aimed to evaluate the clinicopathological characteristics of patients with PEComa arising from the female genital tract.Methods:A retrospective study was conducted in Taipei Veterans General Hospital (Taipei VGH) between 2008 and 2018. All published English cases based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement were also included in the current review.Results:A total of 114 women from PRISMA and 3 women from Taipei VGH were identified. The uterus was the most commonly involved site (82/114, 71.9%), followed by the cervix (12/114, 10.5%). Immunohistochemical staining showed that nearly all gynecological PEComas were positive for human melanoma black 45 (113/114, 99.1%). More than half of the gynecological PEComas were immunoreactive for desmin (50/85, 58.8%). Multi-modality treatment, including surgery and mammalian target of rapamycin (mTOR) inhibitors as targeted therapy, provided long-term disease-free survival (cure rate ranging from 50% to 100%, based on the different anatomic sites of the female genital tract).Conclusion:Multi-modality treatment, including cytoreductive surgery and mTOR inhibitors with/without chemotherapy and/or radiation, should be considered for the management of women with PEComas in the genital tract.

Ultrasound Features of a Uterine Perivascular Epithelioid Cell Tumor (PEComa): Case Report and Literature Review

“…To date, around 89 cases of uterine corpus PEComas have been reported in the English language literature [15,16]. However, there are no precise preoperative imaging characteristics suggestive of a PEComa.…”

“…The electronic medical database PubMed was used for research, combining the following terms: ("perivascular epithelioid cell tumor" or "PEComa") and ("uterine" or "uterus") and ("ultrasound" or "ultrasonography"). There were eleven articles in the English literature, referring specifically to the uterine PEComa ultrasound appearance for a total of 19 cases (including the present report) [15][16][17][18][19][20][21][22][23][24][25] (Figure 4). The mean reported diameter of PEComa was about 7 cm.…”

“…Ultrasound evaluation of a uterine lesion can reveal malignancy features, such as central necrosis, irregular margins, and a high color Doppler score. However, the positive predictive value of these characteristics is low, as they can also be present in benign lesions [15]. Magnetic resonance imaging can better define the lesion's internal structure, but the reported appearances are varied [9].…”

“…In the paper from Tirumani et al, one case of uterine PEComa was described as a well-circumscribed heterogeneous mass with no cystic areas or significant vascularity during the Doppler examination, being confused with uterine fibroid [21]. Four authors described malignancy characteristics (high central vascular network with low impedance and an imprecise border of the tumor but not hypo/anechoic or cystic area) that led to confusing it with a sarcoma [15,18,19,21]. The presence of a hypo-anechoic area inside the tumor led to a diagnosis of fibroid or degenerate leiomyoma in two cases [16].…”

An unusual case of uterine PEComa presenting with disseminated intravascular coagulation

“…PEComas are rare tumors, with only approximately 100 gynecologic PEComa cases reported (Liu et al, 2019). A distinct clinical presentation for PEComa is a challenge.…”