Retrospective Study
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Oncol. Feb 15, 2025; 17(2): 99662
Published online Feb 15, 2025. doi: 10.4251/wjgo.v17.i2.99662
Malignant perivascular epithelioid cell tumor of the colorectum: Clinicopathological characterization, diagnosis and treatment process of 7 cases
Ming-Fei Ma, Zhen-Yu Chi, Li-Juan Zhao, Wei Zhai, Wen Zhong, Song Wang
Ming-Fei Ma, Li-Juan Zhao, Wei Zhai, Wen Zhong, Department of Pharmacy, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, Zhejiang Province, China
Zhen-Yu Chi, Department of Surgery, People's Hospital of Anji, Huzhou 313300, Zhejiang Province, China
Song Wang, Department of Colorectal Surgery, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, Zhejiang Province, China
Co-first authors: Ming-Fei Ma and Zhen-Yu Chi.
Author contributions: Ma MF and Chi ZY performed the study and wrote the manuscript; they contributed equally and are therefore co-first authors; Ma MF and Zhao LJ analyzed the data and generated charts; Chi ZY, Zhai W and Zhong W collected patients’ clinical data and conducted follow-up; Wang S designed and supervised the report; All authors have read and approved the final manuscript.
Institutional review board statement: This study was reviewed and approved by the Ethics Committees of the participating hospitals.
Informed consent statement: Informed consent was waived by the Ethics Committees of the participating hospital.
Conflict-of-interest statement: The authors report no relevant conflicts of interest for this article.
Data sharing statement: No additional data are available.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Song Wang, MD, PhD, Surgeon, Department of Colorectal Surgery, The First Affiliated Hospital, Zhejiang University School of Medicine, No. 79 Qingchun Road, Hangzhou 310003, Zhejiang Province, China. 592031959@qq.com
Received: July 27, 2024
Revised: October 25, 2024
Accepted: November 22, 2024
Published online: February 15, 2025
Processing time: 175 Days and 1.1 Hours
Abstract
BACKGROUND

Perivascular epithelioid cell tumor (PEComa) of the colorectum is exceedingly rare, with only a few published reports. It presents with a wide spectrum of biological behavior, ranging from benign to malignant. The prognosis for malignant PEComa is poor and there is little consensus on its treatment.

AIM

To fully characterize PEComa and standardize its diagnosis and treatment.

METHODS

Patients with colorectal malignant PEComa were identified from the First Affiliated Hospital, Zhejiang University School of Medicine and People's Hospital of Anji. Cases with controversial pathology and cases lost to follow-up were excluded, leaving seven remaining cases that formed the basis of the study. We collected relevant clinicopathological, therapeutic and followup details. Disease stage and progression were assessed by contrast-enhanced computed tomography at baseline and at 3-month intervals.

RESULTS

The mean age was 43 years, with a range of 5 years to 73 years. The average body mass index was 21.8 ± 3.0 kg/m2, and 71.4% of cases occurred in the colon. The main symptoms of colorectal PEComas were abdominal mass and hematochezia. The most common microscopic finding of malignant behavior was infiltrative growth. Immunohistochemical analysis found that 6/7 cases were positive for HMB45, 5/7 were positive for melan-A, and 3/5 were positive for MiTF. The watch-and-wait approach to treatment was a risky option. Radical resection was preferable to systemic treatment. The median progression-free survival exceeded 38 months, longer than previously reported.

CONCLUSION

Radical or extended resection is the key to prolonged survival of malignant PEComa. More meaningful studies are urgently needed to establish the standardized diagnosis and treatment.

Keywords: Perivascular epithelioid cell tumor; Colorectum; Malignant; Resection; Mammalian target of rapamycin inhibitor

Core Tip: Perivascular epithelioid cell tumor (PEComa) of the colorectum is exceedingly rare, and inexperience in therapy and poor prognosis are obstacles to treatment. Here, we retrieved 7 cases censored at 3-month intervals with clinicopathological, therapeutic and follow-up details (median, 44 months). Patients benefited from R0 resection, which was superior to systemic therapy. There was a high risk of recurrence within 2 years postoperatively. The median progression-free survival exceeded 38 months, longer than previously reported. Therefore, radical or extended resection is the key to prolonging the survival of patients with colorectal malignant PEComa.