Perivascular epithelioid cell tumour of the uterus: what do we know?

Yvonne W. Y. Wong, Julian H. L. Kang


Perivascular epithelioid cell neoplasm (PEComa) is a rare mesenchymal tumour characterized by distinctive histological and immunohistochemical perivascular epithelioid cells. These tumours can be found in various anatomic sites, with gynaecologic PEComas accounting for nearly one-fourth of reported cases in the literature. However, due to its non-specific clinical presentation and a lack of definitive radiological appearance, the diagnosis of PEComas remains challenging. In this case report, we describe a 45-year old lady suffering from urinary retention secondary to large uterine fibroids, who then underwent a total hysterectomy. Postoperative histopathology with immunohistochemical stains confirmed an unexpected finding of uterine PEComa. Although the treatment of gynaecologic PEComas remains controversial, complete surgical resection with negative margins is recommended. A multidisciplinary approach will be beneficial in determining the necessity of adjuvant therapy such as targeted therapy with mTOR inhibitors, especially for PEComas which exhibit aggressive and high-risk features.


Perivascular epithelioid cell, PEComa, Uterus, Gynaecologic, mTOR inhibitors

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Folpe AL. Neoplasms with perivascular epithelioid cell differentiation (PEComas). In: Fletcher CDM, Unni KK, Mertens F, eds. Pathology and Genetics of Tumors of Soft Tissue and Bone. Lyon, France: IARC Press. 2002;221-2.

Pea M, Martignoni G, Zamboni G, Bonetti F. Perivascular epithelioid cell. Am J Surg Pathol. 1996;20:1149-53.

Liu C, Chao W, Lin S, Lau H, Wu H, Wang P. Malignant perivascular epithelioid cell tumour in the female genital tract. Medicine. 2019;98:14072.

Folpe AL, Mentzel T, Lehr HA, Fisher C, Balzer BL, Weiss SW, et al. Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. Am J Surg Pathol. 2005;29:1558-75.

Fitzpatrick M, Pulver T, Klein M, Murugan P, Khalifa M, Amin K. Perivascular epithelioid cell tumor of the uterus with ovarian involvement: a case report and review of the literature. Am J Case Rep. 2016;17:309-14.

Theofanakis C, Thomakos N, Sotiropoulou M, Rodolakis A. Perivascular epithelioid cell tumor of the uterus: report of two cases and mini-review of the literature. Int J Surg Case Rep. 2016;28:85-7.

Fadare O. Perivascular epithelioid cell tumor (PEComa) of the uterus: an outcome-based clinicopathologic analysis of 41 reported cases. Adv Anat Pathol. 2008;15:63-75.

Fadare O. Uterine PEComa: appraisal of a controversial and increasingly reported mesenchymal neoplasm. ISSO. 2008;5:7.

Westaby JD, Magdy N, Fisher C, El-Bahrawy M. Primary ovarian malignant PEComa: a case report. Int J Gynecol Pathol. 2017;36:400-4.

Schoolmeester JK, Howitt BE, Hirsch MS, Dal Cin P, Quade BJ, Nucci MR, et al. Perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: clinicopathologic and immunohistochemical characterization of 16 cases. Am J Surg Pathol. 2014;38:176-88.

Davies DM, de Vries PJ, Johnson SR, McCartney DL, Cox JA, Serra AL, et al. Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clin Cancer Res. 2011;17:4071-81.

Szpurek D, Szubert S, Zielinski P, Frankowski A, Sajdak S, Moszynski R. Malignant presentation of uterine lymphangioleiomyomatosis. Taiwan J Obstet Gynecol. 2015;54:603-7.

Liu J, Meng T, Yang X, Zhao G, Li B. Spontaneous rupture of renal angiomyolipoma in the third trimester. Taiwan J Obstet Gynecol. 2015;54:788-90.

Rothenberger R, Jackson A, Kendler A, Herzog T, Billingsley C. An unusual case of uterine PEComa presenting with disseminated intravascular coagulation. Gynecol Oncol Rep. 2019;29:76-8.

National Library of Medicine. Tuberous sclerosis complex. 2020. Available at: Accessed on 10 June 2020.

The European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell. 1993;75:1305-15.

Van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997;277:805-8.

Gao S, Wang Z, Xie Y. Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: case report. Medicine (Baltimore). 2018;97:11533.

Gu X, Han L, Chen J, Wang J, Hao X, Zhang Y, et al. Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing. Medicine (Baltimore). 2018;97:0112.