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Seharada K, Kitazawa M, Nakamura S, Yamamoto Y, Soejima Y. A Perivascular Epithelioid Cell Tumor in the Ascending Colon: A Rare Case Involving a Patient With Tuberous Sclerosis. Cureus 2025; 17:e79061. [PMID: 40099082 PMCID: PMC11913525 DOI: 10.7759/cureus.79061] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 02/15/2025] [Indexed: 03/19/2025] Open
Abstract
Tuberous sclerosis (TSC) is a genetic disorder characterized by the development of benign tumors in various organs such as the brain, heart, lungs, kidneys, skin, and gastrointestinal tract. Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors associated with TSC. Primary gastrointestinal PEComas are uncommon. This report describes a PEComa in the ascending colon of a patient with TSC and presents a review of the relevant literature. A 33-year-old female patient with a history of TSC presented with a 30-mm mass in the ascending colon that had remained stable for two years. A colonoscopy revealed a 30-mm submucosal tumor in the ascending colon, and non-neoplastic biopsy results were observed. Contrast-enhanced computed tomography revealed a 30-mm mass in the ascending colon with early contrast enhancement. After considering the differential diagnoses of PEComas, gastrointestinal stromal tumors, and leiomyomas/leiomyosarcomas, laparoscopic ileocecal resection was performed. A white extramural tumor that was covered with a capsule was observed in the ascending colon intraoperatively. The histopathological analysis results suggested a complex array of spindle cells. The immunohistochemistry results for alpha-smooth muscle actin, desmin, and human melanoma black (HMB)-45 were positive, and those for c-kit and S100 were negative, thus confirming the diagnosis of a PEComa. This case highlights the importance of considering PEComas when patients with TSC present with submucosal gastrointestinal tumors and the need for careful diagnostic evaluations of such cases.
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Affiliation(s)
- Kai Seharada
- Surgery, Shinshu University School of Medicine, Matsumoto, JPN
| | - Masato Kitazawa
- Surgery, Shinshu University School of Medicine, Matsumoto, JPN
| | | | - Yuta Yamamoto
- Surgery, Shinshu University School of Medicine, Matsumoto, JPN
| | - Yuji Soejima
- Surgery, Shinshu University School of Medicine, Matsumoto, JPN
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Kou L, Zheng WW, Jia L, Wang XL, Zhou JH, Hao JR, Liu Z, Gao FY. Pediatric case of colonic perivascular epithelioid cell tumor complicated with intussusception and anal incarceration: A case report. World J Gastrointest Oncol 2022; 14:1348-1355. [PMID: 36051099 PMCID: PMC9305576 DOI: 10.4251/wjgo.v14.i7.1348] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/15/2021] [Revised: 04/28/2022] [Accepted: 06/27/2022] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Perivascular epithelioid cell tumor (PEComa) represents a group of rare mesenchymal tumors. PEComa can occur in many organs but is rare in the colorectum, especially in children. Furthermore, PEComa is a rare cause of intussusception, the telescoping of a segment of the gastrointestinal tract into an adjacent one. We describe a rare case of pediatric PEComa complicated with intussusception and anal incarceration, and conduct a review of the current literature.
CASE SUMMARY A 12-year-old girl presented with abdominal pain and abdominal ultrasound suggested intussusception. Endoscopic direct-vision intussusception treatment and colonoscopy was performed. A spherical tumor was discovered in the transverse colon and removed by surgery. Postoperative pathologic analyses revealed that the tumor volume was 5.0 cm × 4.5 cm × 3.0 cm and the tumor tissue was located in the submucosa of the colon, arranged in an alveolar pattern. The cell morphology was regular, no neoplastic necrosis was observed, and nuclear fission was rare. The immunohistochemical staining results were as follows: Human melanoma black 45 (HMB 45) (+), cluster of differentiation 31 (CD31) (+), cytokeratin (-), melanoma-associated antigen recognized by T cells (-), smooth muscle actin (-), molleya (-), desmin (-), S-100 (-), CD117 (-), and Ki67 (positive rate in hot spot < 5%). Combined with the results of pathology and immunohistochemistry, we diagnosed the tumor as PEComa. Postoperative recovery was good at the 4 mo follow-up.
CONCLUSION The diagnosis of PEComa mainly depends on pathology and immunohistochemistry. Radical resection is the preferred treatment method.
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Affiliation(s)
- Luan Kou
- Department of Gastroenterology, Shandong Provincial Maternal and Child Health Care Hospital, Jinan 250014, Shandong Province, China
| | - Wen-Wen Zheng
- Department of Gastroenterology, Shandong Provincial Maternal and Child Health Care Hospital, Jinan 250014, Shandong Province, China
| | - Li Jia
- Department of Gastroenterology, Shandong Provincial Maternal and Child Health Care Hospital, Jinan 250014, Shandong Province, China
| | - Xiao-Li Wang
- Department of Gastroenterology, Shandong Provincial Maternal and Child Health Care Hospital, Jinan 250014, Shandong Province, China
| | - Ji-Hai Zhou
- Department of Gastroenterology, Shandong Provincial Maternal and Child Health Care Hospital, Jinan 250014, Shandong Province, China
| | - Jiao-Rong Hao
- Department of Gastroenterology, Shandong Provincial Maternal and Child Health Care Hospital, Jinan 250014, Shandong Province, China
| | - Zhu Liu
- Department of Gastroenterology, Shandong Provincial Maternal and Child Health Care Hospital, Jinan 250014, Shandong Province, China
| | - Feng-Yu Gao
- Department of Gastroenterology, Shandong Provincial Maternal and Child Health Care Hospital, Jinan 250014, Shandong Province, China
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Chen Z, Han S, Wu J, Xiong M, Huang Y, Chen J, Yuan Y, Peng J, Song W. A systematic review: perivascular epithelioid cell tumor of gastrointestinal tract. Medicine (Baltimore) 2016; 95:e3890. [PMID: 27428182 PMCID: PMC4956776 DOI: 10.1097/md.0000000000003890] [Citation(s) in RCA: 26] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/14/2022] Open
Abstract
Perivascular epithelioid cell tumor (PEComa) is a rare entity with distinctive morphology and of expressing myomelanocytic markers. Gastrointestinal tract (GI) is one of the most common anatomic sites of origin and counts for 20% to 25% of all reported cases of perivascular epithelioid cell tumors not otherwise specified (PEComas-NOS). However, the biologic behavior of perivascular epithelioid cell tumors of gastrointestinal tract (GI PEComas-NOS) is still unclear. The aim of conducting this systematic review is to sum up what is known so far of the epidemiology, natural history, management and prognosis of GI PEComas-NOS.A systematic research was performed on PubMed and EMBASE using the following terms: ("perivascular epithelioid cell tumor" or "PEComa") and ("gastrointestinal tract" or "GI" or "oral " or "mouth" or "esophagus" or "gullet" or "gastric" or "stomach" or "duodenum" or "jejunum" or "ileum" or "cecum" or "colon" or "colorectal" or "sigmoid" or "rectum" or "anus" or "mesentery") up to December 1, 2015. Retrieved GI PEComas-NOS publications, which included these terms, contains case reports, case series to case characteristic researches.A total of 168 articles were reviewed, 41 GI PEComa-NOS English studies among which were retrieved for analysis. We reviewed epidemiology, natural history, management and prognosis of GI PEComa-NOS. Generally GI PEComa-NOS is believed to have women predomination. The most frequently involved location is colon with non-specific clinical signs. Pathologically, GI PEComas-NOS shows epithelioid predominance (70%), meanwhile coexpresses melanocytic and muscle markers characteristically, while immunohistochemistry is a useful tool for identify, which indicates that HMB-45 is regarded as the most sensitive reagent. Complete resection served as mainstay of treatment, while chemotherapy should be unanimously considered to apply in malignant cases. Eventually, it is necessary for closed and long-term follow-up with endoscope and imaging for ruling out local recurrence or distant metastasis of this tumor.GI PEComas-NOS lives with unclear behavior. There are still many unverified clinicopathological issues of GI PEComas-NOS that needs to be clarified. Further studies and analyses concerning this rare entity should be brought out. Thus, the randomized clinical researches (RCTs) are required to be conducted.
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Affiliation(s)
- Zehong Chen
- Department of Gastrointestinal Surgery, The First Affiliated Hospital,Sun Yat-Sen University
| | - Siqi Han
- Faculty of Medical Statistics and Epidemiology, School of Public Health,Sun Yat-Sen University
| | - Jialin Wu
- Department of Gastrointestinal Surgery, The First Affiliated Hospital,Sun Yat-Sen University
| | - Minmin Xiong
- Center for Stem Cell Biology and Tissue Engineering, Key Laboratory for Stem Cells and Tissue Engineering, Ministry of Education, Sun Yat-Sen University
| | - Yanqiao Huang
- Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, Guangdong, China
| | - Jianhui Chen
- Department of Gastrointestinal Surgery, The First Affiliated Hospital,Sun Yat-Sen University
| | - Yujie Yuan
- Department of Gastrointestinal Surgery, The First Affiliated Hospital,Sun Yat-Sen University
| | - Jianjun Peng
- Department of Gastrointestinal Surgery, The First Affiliated Hospital,Sun Yat-Sen University
| | - Wu Song
- Department of Gastrointestinal Surgery, The First Affiliated Hospital,Sun Yat-Sen University
- Correspondence: Wu Song, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China (e-mail: )
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Chen Z, Shi H, Peng J, Yuan Y, Chen J, Song W. Perivascular epithelioid cell tumor in the duodenum: challenge in differential diagnosis. INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY 2015; 8:8555-8562. [PMID: 26339433 PMCID: PMC4555761] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Subscribe] [Scholar Register] [Received: 05/25/2015] [Accepted: 06/29/2015] [Indexed: 06/05/2023]
Abstract
Defined as a family of scarce mesenchymal neoplasm which distinctively co-express melanocytic markers and muscle markers, perivascular epithelioid cell tumors (PEComas) have been reported almost everybody site. Perivascular epithelioid cell tumors-not otherwise specified (PEComas-NOS) arising in the gastrointestinal (GI) tract are still restricted into sporadic case reports. Herein we present a case of GI PEComas-NOS which occurs in the duodenum of a 27-year-old male. Our initial diagnosis tended to gastrointestinal stromal tumor or smooth muscle tumor till the correct diagnosis of perivascular epithelioid cell tumor (PEComa) was established by postoperative pathological examination. We also make a literature review of GI PEComas-NOS and highlight the challenge it brings to the differential diagnosis.
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Affiliation(s)
- Zehong Chen
- Department of Gastrointestinal Surgery, The First Affiliated Hospital, Sun Yat-Sen University58 Zhongshan 2nd Road, Guangzhou 510080, China
| | - Huijuan Shi
- Department of Pathology, The First Affiliated Hospital, Sun Yat-Sen UniversityGuangzhou, China
| | - Jianjun Peng
- Department of Gastrointestinal Surgery, The First Affiliated Hospital, Sun Yat-Sen University58 Zhongshan 2nd Road, Guangzhou 510080, China
| | - Yujie Yuan
- Department of Gastrointestinal Surgery, The First Affiliated Hospital, Sun Yat-Sen University58 Zhongshan 2nd Road, Guangzhou 510080, China
| | - Jianhui Chen
- Department of Gastrointestinal Surgery, The First Affiliated Hospital, Sun Yat-Sen University58 Zhongshan 2nd Road, Guangzhou 510080, China
| | - Wu Song
- Department of Gastrointestinal Surgery, The First Affiliated Hospital, Sun Yat-Sen University58 Zhongshan 2nd Road, Guangzhou 510080, China
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Pancreatic perivascular epithelioid cell tumour presenting with upper gastrointestinal bleeding. Case Rep Oncol Med 2015; 2015:431215. [PMID: 25632358 PMCID: PMC4302363 DOI: 10.1155/2015/431215] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/13/2014] [Accepted: 12/29/2014] [Indexed: 01/02/2023] Open
Abstract
PEComa is a family of rare mesenchymal tumours which can occur in any part of the human body. Primary PEComas of the pancreas are extremely rare tumours with uncertain malignant potential. A 17-year-old female was admitted to the hospital due to melena. She required several transfusions. CT scan demonstrated a mass at the head of the pancreas measuring 4.2 cm in maximum diameter. An endoscopic ultrasound showed an ulcerating malignant looking mass infiltrating 50% of the wall of the second part of the duodenum in the region of the ampulla. Multiple biopsies taken showed extensive ulceration with granulation tissue formation and underlying large macrophages without being able to establish a definite diagnosis. We proceeded with pylorus-preserving pancreaticoduodenectomy. The postoperative course of the patient was unremarkable, and she was discharged on the 8th postoperative day. Histology examination of the specimen showed a PEComa of pancreas. Eighteen months after resection the patient is disease free. To the best of our knowledge this is the first time we describe a case of a pancreatic PEComa presenting with massive gastrointestinal bleeding.
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Lu B, Wang C, Zhang J, Kuiper RP, Song M, Zhang X, Song S, Kessel AGV, Iwamoto A, Wang J, Liu H. Perivascular epithelioid cell tumor of gastrointestinal tract: case report and review of the literature. Medicine (Baltimore) 2015; 94:e393. [PMID: 25621681 PMCID: PMC4602642 DOI: 10.1097/md.0000000000000393] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/27/2023] Open
Abstract
Perivascular epithelioid cell tumors of gastrointestinal tract (GI PEComas) are exceedingly rare, with only a limited number of published reports worldwide. Given the scarcity of GI PEComas and their relatively short follow-up periods, our current knowledge of their biologic behavior, molecular genetic alterations, diagnostic criteria, and prognostic factors continues to be very limited.We present 2 cases of GI PEComas, one of which showed an aggressive histologic behavior that underwent multiple combined chemotherapies. We also review the available English-language medical literature on GI PEComas-not otherwise specified (PEComas-NOS) and discuss their clinicopathological and molecular genetic features.Pathologic analyses including histomorphologic, immunohistochemical, and ultrastructural studies were performed to evaluate the clinicopathological features of GI PEComas, their diagnosis, and differential diagnosis. Immunohistochemistry, semiquantitative reverse transcriptase polymerase chain reaction, and DNA sequencing assays were carried out to detect the potential molecular genetic alterations in our cases. Microscopically, the tumors showed distinctive histologic features of PEComas-NOS, including fascicular or nested architecture, epithelioid or spindled cell type, and clear to eosinophilic cytoplasm. The tumor cells were immunohistochemically positive for melanocytic markers. Molecular pathological assays confirmed a PSF-TFE3 gene fusion in one of our cases. Furthermore, in this case microphthalmia-associated transcription factor and its downstream genes were found to exhibit elevated transcript levels.Knowledge about the molecular genetic alterations in GI PEComas is still limited and warrants further study.
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Affiliation(s)
- Biyan Lu
- From the Guangdong Institute of Gastroenterology and the Sixth Affiliated Hospital, (BL, CW, JZ, MS, XZ, SS, JW, HL); Guangdong Key Laboratory of Colorectal and Pelvic Floor Diseases, (BL, CW, JZ, MS, XZ, JW, HL); Institute of Human Virology, (BL, CW, JZ, MS, XZ, HL) Key Laboratory of Tropical Disease Control (Ministry of Education); Sun Yat-sen University, Guangzhou (BL, CW, JZ, MS, XZ, HL); Dongguan Health School, Dongguan, China (BL); Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands (JZ, RPK, AGK); and Advanced Clinical Research Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan (AI)
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