Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 6, 2019; 7(21): 3524-3534
Published online Nov 6, 2019. doi: 10.12998/wjcc.v7.i21.3524
Retroperitoneal perivascular epithelioid cell tumours: A case report and review of literature
Zisis Touloumis, Niki Giannakou, Christos Sioros, Argiro Trigka, Maria Cheilakea, Nikoletta Dimitriou, John Griniatsos
Zisis Touloumis, Christos Sioros, Argiro Trigka, Department of Surgery, Athens Medical Group, Athens 11525, Greece
Niki Giannakou, Department of Pathology, Athens Medical Group, Athens 11525, Greece
Maria Cheilakea, Emergency Department, Konstantopouleio General Hospital, N. Ionia 14233, Greece
Nikoletta Dimitriou, John Griniatsos, 1st Department of Surgery, National and Kapodistrian University of Athens, Athens 11527, Greece
Author contributions: Touloumis Z, Sioros C and Trigka A performed the diagnostic work-up and operated the patient; Giannakou N established the diagnosis by histology and immunohistochemistry; Touloumis Z and Cheilakea M reviewed the literature and drafted the manuscript; Dimitriou N wrote the manuscript; Griniatsos J wrote the manuscript and revised it critically; and all authors issued final approval for the version to be submitted.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Zisis Touloumis, MD, Doctor, Surgeon, Department of Surgery, Athens Medical Group, 10th Douna str, Athens 11525, Greece. ztouloumis@gmail.com
Telephone: +30-69-38230154
Received: April 6, 2019
Peer-review started: April 8, 2019
First decision: August 1, 2019
Revised: August 26, 2019
Accepted: September 9, 2019
Article in press: September 9, 2019
Published online: November 6, 2019
Processing time: 216 Days and 10.9 Hours
Abstract
BACKGROUND

The perivascular epithelioid cell tumour (PEComa) family of tumours mainly includes renal and hepatic angiomyolipomas, pulmonary lymphangioleiomyomatosis and clear cell “sugar” tumour of the lung. Several uncommon tumours with similar morphological and immunophenotypical characteristics arising at a variety of sites (abdominal cavity, digestive tract, retroperitoneum, skin, soft tissue and bones) are also included in the PEComa family and are referred to as PEComas not otherwise specified.

CASE SUMMARY

We present a 37-year-old female patient who underwent resection of an 8.5 cm × 8 cm × 4 cm retroperitoneal tumour, which eventually was diagnosed as PEComa of uncertain biological behaviour. Three years after the operation, the patient remains without any evidence of recurrence. A search was performed in the Medline and EMBASE databases for articles published between 1996 and 2018, and we identified 31 articles related to retroperitoneal and perinephric PEComas. We focused on sex, age, maximum dimension, histological and immunohistochemical characteristics of the tumour, follow-up and long-term outcome. Thirty-four retroperitoneal (including the present one) and ten perinephric PEComas were identified, carrying a malignant potential rate of 44% and 60%, respectively. Nearly half of the potentially malignant PEComas presented with or developed metastases during the course of the disease.

CONCLUSION

Retroperitoneal PEComas are not as indolent as they are supposed to be. Radical surgical resection constitutes the treatment of choice for localized disease, while mammalian target of the rapamycin (mTOR) inhibitors constitute the most promising therapy for disseminated disease. The role of mTOR inhibitors as adjuvant or neoadjuvant therapies needs to be evaluated in the future.

Keywords: Perivascular epithelioid cell tumour; Retroperitoneum; Mammalian target of the rapamycin inhibitors; Tuberous sclerosis complex; Case report; Treatment

Core tip: The retroperitoneal space represents the third most frequent location for perivascular epithelioid cell tumours (PEComas) not otherwise specified development. Half were stratified as potentially malignant, and nearly half of the potentially malignant tumours presented with or developed metastases during the course of the disease. Thus, retroperitoneal PEComas are not as indolent as they are supposed to be. Radical surgical resection constitutes the treatment of choice for localized disease, while mammalian target of the rapamycin (mTOR) inhibitors constitute the most promising therapy for disseminated disease. The role of mTOR inhibitors as adjuvant or neoadjuvant therapies needs to be evaluated in the future.