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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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Lin KH, Chang NJ, Liou LR, Su MS, Tsao MJ, Huang ML. Successful management of perivascular epithelioid cell tumor of the rectum with recurrent liver metastases: A case report. Medicine (Baltimore) 2018; 97:e11679. [PMID: 30075560 PMCID: PMC6081099 DOI: 10.1097/md.0000000000011679] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/22/2022] Open
Abstract
RATIONALE The perivascular epithelioid cell tumor (PEComa) is rare in young man and rarely occurs in the large intestine. PATIENT CONCERNS The clinical characteristics, diagnosis, and managements in a 28-year-old boy who presented with sudden onset of cramping and abdominal pain and intermittent melena with a blood pressure of 74/39 mm Hg was retrospectively reviewed. CT scan of the abdomen revealed a 8.9 × 7.2 cm mass in the pelvic floor. DIAGNOSES Given the difficulty of obtaining a diagnostic specimen, surgical resection was performed. The pathology report of lower anterior resection was malignant PEComa of the rectum in 2006. INTERVENTIONS Treatment consisted of surgical resection only without additional adjuvant therapy. Over the next 49 months (until 2010) after surgery, abdominal CT showed a 0.6-cm hypodense mass over the liver with suspected liver metastasis. He refused any further evaluation and treatment. After 4 years (2014), abdominal CT showed that the original mass had increased from 0.6 to 1.5 cm and the number of tumors had increased from 1 to 3. In August 2014, he underwent a metastatic hepatectomy without additional chemotherapy or radiotherapy. OUTCOMES We noted that the metastatic progression was slow in the 4 years after the first operation. At 28 months after metastatic hepatectomy, the patient was doing well. There was also no recurrence of the PEComa of the rectum at the 120-month follow-up in 2016. LESSONS To the best of our knowledge, this is the first report of a PEComa of the rectum with liver metastases treated with only surgical resection. At approximately 8.8 cm, this is the largest PEComa of the rectum reported in the recent literature.
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Affiliation(s)
| | - Nai-Jen Chang
- Division of Pathology, Zuoying Branch of Kaohsiung Armed Forces General Hospital, Taiwan, Republic of China
| | - Li-Ren Liou
- Department of Surgery, Division of General Surgery
| | - Ming-Shan Su
- Department of Surgery, Division of General Surgery
| | - Min-Jen Tsao
- Department of Surgery, Division of General Surgery
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Okamoto K, Okada Y, Ohno K, Yagi T, Tsukamoto M, Akahane T, Shimada R, Hayama T, Tsuchiya T, Nozawa K, Matsuda K, Ishida T, Kondo F, Hashiguchi Y. A rare case of perivascular epithelioid cell tumor (PEComa) of the greater omentum. World J Surg Oncol 2018; 16:113. [PMID: 29921303 PMCID: PMC6008935 DOI: 10.1186/s12957-018-1407-5] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/07/2018] [Accepted: 06/06/2018] [Indexed: 12/28/2022] Open
Abstract
Background A tumor composed exclusively or predominantly of human melanin black 45 (HMB45)-positive epithelioid cells is called a perivascular epithelioid cell tumor (PEComa). We report a very rare case of a PEComa of the greater omentum. Case presentation MRI conducted to examine the orthopedic disease of the patients, a 49-year-old Japanese woman, also identified a tumor in her pelvis. A CT scan revealed a tumor mass on the right side of the pelvic floor and clear nutrient vessels originating from the splenic and celiac arteries. An omental primary tumor or accessory spleen was thus suspected, and tumor resection was performed. The tumor was a light brown solid tumor with a smooth margin, measuring 5.2 × 3.8 × 3.5 cm. Histopathologically, the tumor was composed mainly of spindle and epithelioid cells, and large and small blood vessel formation was observed. In the immunohistochemical staining, tumor cells were positive for human melanin black 45 (HMB-45) and Melan-A and partially positive for alpha-smooth muscle actin. The final diagnosis was PEComa of the greater omentum. Conclusions Although omental PEComa is very rare, it should be considered as a differential disease of an omental primary tumor.
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Affiliation(s)
- Koichi Okamoto
- Department of Surgery, Teikyo University School of Medicine, 2-11-1 Kaga Itabashi-ku, Tokyo, 173-8605, Japan.
| | - Yuka Okada
- Department of Surgery, Teikyo University School of Medicine, 2-11-1 Kaga Itabashi-ku, Tokyo, 173-8605, Japan
| | - Kohei Ohno
- Department of Surgery, Teikyo University School of Medicine, 2-11-1 Kaga Itabashi-ku, Tokyo, 173-8605, Japan
| | - Takahiro Yagi
- Department of Surgery, Teikyo University School of Medicine, 2-11-1 Kaga Itabashi-ku, Tokyo, 173-8605, Japan
| | - Mitsuo Tsukamoto
- Department of Surgery, Teikyo University School of Medicine, 2-11-1 Kaga Itabashi-ku, Tokyo, 173-8605, Japan
| | - Takuya Akahane
- Department of Surgery, Teikyo University School of Medicine, 2-11-1 Kaga Itabashi-ku, Tokyo, 173-8605, Japan
| | - Ryu Shimada
- Department of Surgery, Teikyo University School of Medicine, 2-11-1 Kaga Itabashi-ku, Tokyo, 173-8605, Japan
| | - Tamuro Hayama
- Department of Surgery, Teikyo University School of Medicine, 2-11-1 Kaga Itabashi-ku, Tokyo, 173-8605, Japan
| | - Takeshi Tsuchiya
- Department of Surgery, Teikyo University School of Medicine, 2-11-1 Kaga Itabashi-ku, Tokyo, 173-8605, Japan
| | - Keijiro Nozawa
- Department of Surgery, Teikyo University School of Medicine, 2-11-1 Kaga Itabashi-ku, Tokyo, 173-8605, Japan
| | - Keiji Matsuda
- Department of Surgery, Teikyo University School of Medicine, 2-11-1 Kaga Itabashi-ku, Tokyo, 173-8605, Japan
| | - Tsuyoshi Ishida
- Department of Pathology, Teikyo University School of Medicine, Tokyo, Japan
| | - Fukuo Kondo
- Department of Pathology, Teikyo University School of Medicine, Tokyo, Japan
| | - Yojiro Hashiguchi
- Department of Surgery, Teikyo University School of Medicine, 2-11-1 Kaga Itabashi-ku, Tokyo, 173-8605, Japan
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Yoo-Bee H, Ri SY, Jun KK, Jiyoung K. Computerized Tomography and Magnetic Resonance Imaging Findings in Malignant Perivascular Epithelioid Cell Tumors of the Ovaries with Pulmonary Metastasis. IRANIAN JOURNAL OF RADIOLOGY 2016; 13:e34712. [PMID: 27895874 PMCID: PMC5117114 DOI: 10.5812/iranjradiol.34712] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 11/16/2015] [Revised: 02/06/2016] [Accepted: 05/02/2016] [Indexed: 12/16/2022]
Abstract
Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor composed of immunohistochemically and histologically distinctive perivascular epithelioid cells. Here, we report on the computed tomography (CT) and magnetic resonance imaging (MRI) findings of ovarian PEComa with pulmonary metastasis. The tumor was visible as a multilocular hemorrhagic mass that encased the ovarian vessels. These findings were different to those of other common ovarian tumors.
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Affiliation(s)
- Han Yoo-Bee
- Department of Radiology, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Incheon, Republic of Korea
| | - Shin Yu Ri
- Department of Radiology, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Incheon, Republic of Korea
- Corresponding author: Shin Yu Ri, Department of Radiology, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Incheon, Republic of Korea. Tel: +82-322805233, Fax: +82-322805230, E-mail:
| | - Kim Ki Jun
- Department of Radiology, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Incheon, Republic of Korea
| | - Kim Jiyoung
- Department of Hospital Pathology, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Incheon, Republic of Korea
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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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Lan YZ, Hua XE. Hepatic multiple perivascular epithelioid cell neoplasm: A case report and literature review. Mol Clin Oncol 2016; 4:619-621. [PMID: 27073677 DOI: 10.3892/mco.2016.735] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/05/2015] [Accepted: 01/05/2016] [Indexed: 02/06/2023] Open
Abstract
Perivascular epithelioid cell neoplasm (PEComa) is a rare tumor type and primary hepatic multiple perivascular is rarer still. The present case report investigated the case of a 40-year-old woman who was admitted to The Second Xiangya Hospital for hepatic multiple tumor by physical examination without any history of abdominal pain or body weight loss. Abdominal plain computed tomography revealed three lesions in the liver. All lesions exhibited a well-defined boarder and only one mass contained fatty tissue in S6 of the liver. An enhanced scan revealed that all lesions were heterogeneous, and were enhanced on the artery phase and on portal vein phase. On delay phase, the lesions revealed continued enhancement, which is isoattenuating to the normal hepatic parenchyma. Following excision of the three masses, the patient was pathologically diagnosed with hepatic multiple PEComa. Short-term re-examination revealed no recurrence.
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Affiliation(s)
- Yin Zhi Lan
- The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China
| | - Xiao En Hua
- The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China
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7
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Wang ZS, Xu L, Ma L, Song MQ, Wu LQ, Zhou X. Hepatic falciform ligament clear cell myomelanocytic tumor: A case report and a comprehensive review of the literature on perivascular epithelioid cell tumors. BMC Cancer 2015; 15:1004. [PMID: 26698563 PMCID: PMC4690247 DOI: 10.1186/s12885-015-1992-4] [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: 07/02/2015] [Accepted: 12/11/2015] [Indexed: 12/11/2022] Open
Abstract
Background The objective of the study was to explore the clinical expression, radiological and pathological features, differential diagnosis, and biological behavior of a clear cell myomelanocytic tumor. In a case involving a clear cell myomelanocytic tumor located in the hepatic falciform ligament, we evaluated clinical expression, radiological characteristics, histopathology, immunohistochemistry, and biological behavior; we also reviewed the relevant literature. Case presentation Clear cell myomelanocytic tumor is a benign soft-tissue neoplasm that often occurs in women, and is expressed as a painless mass. The falciform ligament is its most frequent site of occurrence. The imaging characteristics of this lesion were uneven enhancement in the arterial phase, continuing to strengthen in the venous phase, and equal density in the balance phase. Histological and immunohistochemical analysis revealed the main transparent epithelioid cells and smooth muscle spindle cells to be HMB-45(+), smooth muscle actin(+), and melan-A (+). Conclusion Hepatic vascular epithelioid cell tumors are very rare mesenchymal neoplasms. Few studies have investigated this tumor in the hepatic falciform ligament; consequently, its diagnosis and the selection of an appropriate treatment and follow-up protocol are challenging. Treatment outcome remains unpredictable. Therefore, clear cell myomelanocytic tumor should be viewed as a tumor with uncertain malignant potential requiring long-term follow-up.
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Affiliation(s)
- Zu-Sen Wang
- Department of Hepatobiliary Surgery, Affiliated Hospital of Qingdao University, Qingdao, Shandong, 266003, China.
| | - Lin Xu
- Department of Hepatobiliary Surgery, Affiliated Hospital of Qingdao University, Qingdao, Shandong, 266003, China.
| | - Lin Ma
- Department of General Surgery, Qingdao Eighth People's Hospital, Qingdao, Shandong, 266003, China.
| | - Meng-Qi Song
- Department of Hepatobiliary Surgery, Affiliated Hospital of Qingdao University, Qingdao, Shandong, 266003, China.
| | - Li-Qun Wu
- Department of Hepatobiliary Surgery, Affiliated Hospital of Qingdao University, Qingdao, Shandong, 266003, China.
| | - Xuan Zhou
- Department of Pathology, Affiliated Hospital of Qingdao University, Qingdao, Shandong, 266003, China.
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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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Charli-Joseph Y, Saggini A, Vemula S, Weier J, Mirza S, LeBoit PE. Primary cutaneous perivascular epithelioid cell tumor: a clinicopathological and molecular reappraisal. J Am Acad Dermatol 2014; 71:1127-36. [PMID: 25267378 DOI: 10.1016/j.jaad.2014.08.016] [Citation(s) in RCA: 28] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/13/2014] [Revised: 08/02/2014] [Accepted: 08/10/2014] [Indexed: 01/20/2023]
Abstract
BACKGROUND Perivascular epithelioid cell tumor (PEComa) is a rare neoplasm of uncertain histogenesis with a mixed myomelanocytic immunophenotype, rarely arising in the skin (primary cutaneous PEComa [pcPEComa]). OBJECTIVE We analyzed the clinicopathological features of 8 pcPEComas, assayed for DNA copy number changes and for initiating mutations common in melanocytic neoplasms. METHODS pcPEComas were evaluated using immunohistochemistry, comparative genomic hybridization, and DNA sequencing. RESULTS pcPEComas were erythematous nodules, mostly in the lower extremities of women (5/8), composed of large pale-staining epithelioid cells. The patient's age range was 26 to 67 (mean 46) years. The percentages of tumors staining positively were as follows: micro-ophthalmia-associated transcription factor, NKI/C3, bcl-1, E-cadherin, and cathepsin K (100%); HMB-45, 4E-binding protein 1, and CD68 (88%); smooth muscle actin and muscle-specific actin (40%); S100 (38%); calponin (20%); desmin (13%); and melan-A, SOX10, and keratin (0%). No chromosomal copy number changes or initiating mutations were identified. LIMITATIONS Small sample size is a limitation. CONCLUSIONS pcPEComas have a different molecular signature than extracutaneous tumors and are unrelated to tuberous sclerosis. However, the common expression of 4E-binding protein 1 points to a role of the mTOR pathway in their pathogenesis. Because pcPEComas are diagnostically challenging, we propose that micro-ophthalmia-associated transcription factor, NKIC3, smooth muscle actin, desmin, bcl-1, cathepsin K, and 4E-binding protein 1 can be used when evaluating a possible pcPEComa.
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Affiliation(s)
- Yann Charli-Joseph
- Pathology, University of California San Francisco, San Francisco, California; Dermatology, University of California San Francisco, San Francisco, California
| | - Andrea Saggini
- Pathology, University of California San Francisco, San Francisco, California; Dermatology, University of California San Francisco, San Francisco, California
| | - Swapna Vemula
- Pathology, University of California San Francisco, San Francisco, California
| | - Jingly Weier
- Pathology, University of California San Francisco, San Francisco, California
| | - Sonia Mirza
- Pathology, University of California San Francisco, San Francisco, California
| | - Philip E LeBoit
- Pathology, University of California San Francisco, San Francisco, California; Dermatology, University of California San Francisco, San Francisco, California; Helen A. Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California.
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Kapur S, Patel NK, Levin MB, Huang R. Malignant mesenteric perivascular epithelioid cell neoplasm presenting as an intra-abdominal fistula in a 49-year-old female. Case Rep Oncol Med 2014; 2014:534175. [PMID: 25114821 PMCID: PMC4119907 DOI: 10.1155/2014/534175] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/25/2014] [Accepted: 06/03/2014] [Indexed: 11/17/2022] Open
Abstract
Perivascular epithelioid cell tumors are rare mesenchymal tumors arising from histologically and immunohistochemically distinctive perivascular epithelioid cells that express both myogenic and melanocytic markers. These tumors are known to arise from different organs in the body and usually have an unpredictable clinical course. We report a case of a 49-year-old female who presented with diffuse abdominal pain, fever, chills, and nonbilious vomiting for a day. Work-up revealed a mesenteric mass measuring 13.5 × 7.7 × 9.5 cm, arising in the mesentery of the hepatic flexure, with adjacent gas suggestive of fistularization into the right colon. An exploratory laparotomy with resection of the mesenteric mass was performed, and the initial histopathology results were compatible with either an adenocarcinoma or a sarcoma; however, because of poor differentiation it was difficult to make a definitive diagnosis. However, final histopathology results revealed a malignant perivascular epithelioid cell tumor (with reservation that a S100 negative metastatic melanoma must be excluded clinically). Following surgery the patient was started on everolimus, an m-TOR inhibitor, and has shown good response to this medication.
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Affiliation(s)
- Sakshi Kapur
- Department of Internal Medicine, Overlook Medical Center, 99 Beauvoir Avenue, Summit, NJ 07902, USA
| | - Napoleon K. Patel
- Department of Internal Medicine, Overlook Medical Center, 99 Beauvoir Avenue, Summit, NJ 07902, USA
| | - Miles B. Levin
- Division of Pathology, Overlook Medical Center, 99 Beauvoir Avenue, Summit, NJ 07902, USA
| | - Richard Huang
- MS III, St. George's University School of Medicine, True Blue, Grenada
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11
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Imaging features of primary and metastatic malignant perivascular epithelioid cell tumors. AJR Am J Roentgenol 2014; 202:252-8. [PMID: 24450662 DOI: 10.2214/ajr.13.10909] [Citation(s) in RCA: 60] [Impact Index Per Article: 5.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/23/2022]
Abstract
OBJECTIVE The objective of our study was to describe the imaging features of primary and metastatic malignant perivascular epithelioid cell tumors (PEComas). MATERIALS AND METHODS In this retrospective study, 36 patients (26 women, 10 men; mean age, 53.1 years; age range, 35-77 years) with a histopathologically confirmed diagnosis of malignant PEComa who were seen at our institute between January 2007 and December 2012 were included. Pretreatment imaging of the primary tumor in 17 patients (CT, n = 13; MRI, n = 9; ultrasound, n = 5) and follow-up imaging in all 36 patients (CT, n = 36; MRI, n = 7) were reviewed by three radiologists in consensus. RESULTS The most common site of presentation of malignant PEComas was the retroperitoneum (38.9%) followed by the female genital tract (27.8%). Kidneys (8/36) and uterus (8/36) were the organs most frequently involved. The mean largest dimension was 11.01 cm (range, 4.5-25 cm). Primary tumors were well-circumscribed masses (16/17), were heteroechoic on ultrasound (5/5), were hypodense (2/6) to isodense (4/6) enhanced significantly (11/12) and compared with the paraspinal muscles on CT, were hypointense to isointense compared with skeletal muscle on T1-weighted imaging (8/9), were heterogeneously hyperintense compared with skeletal muscle on T2-weighted imaging (9/9), and showed significant post-gadolinium enhancement (7/7) on MRI. Of the 17 primary tumors, necrosis was seen in seven tumors, hemorrhage in three tumors, and calcification in three tumors. Twenty-six of 36 (72%) patients developed metastases, most commonly to the lung (21.6%), liver (17.6%), and peritoneum (10.8%). CONCLUSION Malignant PEComas in our study were large tumors that most often arise in the kidneys and uterus and metastasize to lungs, liver, or peritoneum. In our experience malignant PEComas should be considered in the differential diagnosis of large well-circumscribed renal and uterine tumors.
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Kanazawa A, Fujii S, Godai TI, Ishibe A, Oshima T, Fukushima T, Ota M, Yukawa N, Rino Y, Imada T, Ito J, Nozawa A, Masuda M, Kunisaki C. Perivascular epithelioid cell tumor of the rectum: report of a case and review of the literature. World J Surg Oncol 2014; 12:12. [PMID: 24410788 PMCID: PMC3896964 DOI: 10.1186/1477-7819-12-12] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/14/2013] [Accepted: 12/25/2013] [Indexed: 01/26/2023] Open
Abstract
We report a case of perivascular epithelioid cell tumor arising in the rectum of a 55-year-old woman. The tumor was treated by transanal endoscopic microsurgery. After 1 year follow-up, the patient is alive with no radiologic or endoscopic evidence of recurrence. Perivascular epithelioid cell tumor is a rare mesenchymal tumor characterized by co-expression of melanocytic and smooth muscle markers. This rare tumor can arise in various organs, including the falciform ligament, uterus, uterine cervix, liver, kidney, lung, breast, cardiac septum, pancreas, prostate, thigh, and gastrointestinal tract. Perivascular epithelioid cell tumor of the gastrointestinal tract is very rare, with only 23 previously reported cases. We review the literature on perivascular epithelioid cell tumors arising in the gastrointestinal tract.
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Affiliation(s)
- Amane Kanazawa
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Shoichi Fujii
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Ten-i Godai
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Atsushi Ishibe
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Takashi Oshima
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Tadao Fukushima
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Mitsuyoshi Ota
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Norio Yukawa
- Department of Surgery, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama-shi, Kanagawa-ken 236-0004, Japan
| | - Yasushi Rino
- Department of Surgery, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama-shi, Kanagawa-ken 236-0004, Japan
| | - Toshio Imada
- Department of Surgery, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama-shi, Kanagawa-ken 236-0004, Japan
| | - Junko Ito
- Department of Pathology, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Akinori Nozawa
- Department of Pathology, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
| | - Munetaka Masuda
- Department of Surgery, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama-shi, Kanagawa-ken 236-0004, Japan
| | - Chikara Kunisaki
- Gastroenterological Center, Yokohama City University Medical Center, 4-57 Urafune-cho Minami-ku, Yokohama-shi, Kanagawa-ken 232-0024, Japan
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13
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Liu D, Shi D, Xu Y, Cao L. Management of perivascular epithelioid cell tumor of the liver: A case report and review of the literature. Oncol Lett 2013; 7:148-152. [PMID: 24348838 PMCID: PMC3861588 DOI: 10.3892/ol.2013.1689] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/04/2013] [Accepted: 10/28/2013] [Indexed: 01/28/2023] Open
Abstract
Perivascular epithelioid cell tumor (PEComa) is a rare tumor that originates from mesenchymal tissues. Cases of PEComa in the liver are extremely rare. The present study aimed to analyze the clinical features of PEComa in the liver and discuss its management. Here we report a 25-year-old female with multiple lesions of low density with poorly defined borders in the liver, as shown by a computed tomography (CT) scan. A partial hepatectomy was proceeded and PEComa was diagnosed by immunohistochemistry. No evidence of recurrence was observed during the one year follow-up. A total of 20 patients with hepatic PEComa, including one case from the present study and 19 cases that were reported in literature between June 2001 and December 2012, were reviewed and analyzed. The mean patient age was 43.4 years (range, 25-67 years) and the cases consisted of 18 female and two male patients. The tumor size ranged between 2.0×1.6 and 15.0×12.0 cm. Of the 20 patients, nine were asymptomatic and 11 had mild to significant complaints. Immunohistochemistry plays a key role in the diagnosis of PEComa. All the cases in this study were strongly positive for human melanoma black-45. A surgical resection is the gold standard for curative intent. All the patients underwent a surgical resection and none were administered perioperative chemotherapy or radiotherapy. In total, 13 of the 14 patients with follow-up information survived during the 8-36-month follow-up period and one patient succumbed due to recurrence two years after the surgery.
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Affiliation(s)
- Daren Liu
- Department of Surgery, Second Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang, Hangzhou 310009, P.R. China
| | - Dike Shi
- Department of Surgery, Second Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang, Hangzhou 310009, P.R. China
| | - Yuanliang Xu
- Department of Surgery, Second Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang, Hangzhou 310009, P.R. China
| | - Liping Cao
- Department of Surgery, Second Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang, Hangzhou 310009, P.R. China
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Im S, Yoo C, Jung JH, Choi HJ, Yoo J, Kang CS. Primary perivascular epithelioid cell tumor in the rectum: a case report and review of the literature. Pathol Res Pract 2013; 209:244-8. [PMID: 23484779 DOI: 10.1016/j.prp.2013.01.001] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/26/2012] [Revised: 12/27/2012] [Accepted: 01/14/2013] [Indexed: 12/24/2022]
Abstract
Perivascular epithelioid cell tumor (PEComa) is a rare collection of tumors arising in a wide array of anatomic locations. It is characterized by the presence of a peculiar population of myomelanocytic marker-positive perivascular epithelioid cells, and is commonly detected in the uterus. The colorectal area is an uncommon site for primary PEComa. In this study, we describe a 17-year-old patient presenting with a rectal polyp. Histologically, the tumor consisted of sheets of round to polygonal epithelioid cells with clear and granular cytoplasm, and a prominent capillary network. Some of the tumor cells were positive for Fontana-Masson staining. Immunohistochemically, the tumor cells were positive for HMB-45, and were negative for cytokeratin, vimentin, S-100 protein, actin, desmin, EMA, CD34, and c-kit. After finding melanosomes or premelanosomes at the ultrastructural level, the diagnosis of PEComa was made. Although PEComa arising within the intestinal tract is unusual and clinically unexpected, PEComa should be considered in the differential diagnosis of rectal polypoid lesions.
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Affiliation(s)
- Soyoung Im
- Department of Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea
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15
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Cho YW, Kim KJ, Ye BD, Byeon JS, Myung SJ, Yang SK, Kim JH. [A case of a perivascular epithelioid cell tumor mimicking colon cancer]. THE KOREAN JOURNAL OF GASTROENTEROLOGY 2012; 60:377-81. [PMID: 23242022 DOI: 10.4166/kjg.2012.60.6.377] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/03/2022]
Abstract
Perivascular epithelioid cell tumor (PEComa) is extremely rare, which originated from mesenchymal cells in the intestine, and composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. We report here on a case of PEComa in the sigmoid colon. A 62-year-old woman presented with hematochzia 10 days ago. Her abdominal computed tomography scan showed a 5 cm sized intraluminal fungating heterogeneously enhanced, high density mass, which infiltrated pericolic tissue surrounding the sigmoid colon. Colonoscopy showed a purple colored polypoid mass with lobulating contour in the sigmoid colon. She underwent laparoscopic anterior resection. On the histologic examination, the tumor consisted of polygonal epithelioid cells with sheet-like growth of nests, which looked like alveolar tissues in lung. The tumor cells were strongly positive stained with human melanoma black-45 (HMB-45). Pathologic examination was compatible with PEComa. Sixteen months after surgery, she did well without tumor recurrence after surgery. We review the literatures concerning PEComa of the intestine focusing on endoscopic findings.
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Affiliation(s)
- Young Whan Cho
- Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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16
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Tan Y, Zhang H, Xiao EH. Perivascular epithelioid cell tumour: dynamic CT, MRI and clinicopathological characteristics--analysis of 32 cases and review of the literature. Clin Radiol 2012; 68:555-61. [PMID: 23245276 DOI: 10.1016/j.crad.2012.10.021] [Citation(s) in RCA: 46] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/02/2012] [Revised: 10/26/2012] [Accepted: 10/31/2012] [Indexed: 12/14/2022]
Abstract
AIM To evaluate the dynamic computed tomography (CT), magnetic resonance imaging (MRI), and clinicopathological characteristics of perivascular epithelioid cell tumours (PEComas), thus improving the diagnosis of the tumour. MATERIALS AND METHODS A retrospective analysis was undertaken of the dynamic CT, MRI, and clinicopathological characteristics of 32 PEComas diagnosed at histopathology during the period 1 January 2005 to 1 March 2012 at two hospitals. RESULTS The age of the patients ranged from 14-80 years (mean 43.3 years). There were more women in this group (19/32). Solitary tumours were identified in kidney (n = 16), liver (n = 7), gynaecological organs (n = 2), retroperitoneal soft tissue (n = 2), lung (n = 2), palate (n = 1), left groin (n = 1). One patient had multiple tumours in the liver, kidney, and retroperitoneal soft tissue. Dynamic CT (32 cases) and MRI (15 cases) demonstrated tumours that were of low density or hypointense on T1-weighted imaging (WI) and hyperintense on T2WI; some were isodense with fat (CT: 10/32; MRI: 6/15). The tumours usually had well-defined borders and were of a regular shape (CT: 26/32; MRI: 12/15). Tumour diameters ranged from 1.5-18 cm (mean 5.1 cm). Most tumours (CT: 21/32, MRI: 10/15) enhanced heterogeneously and significantly on arterial and venous phases. Tumours appeared slightly hypodense on delayed CT imaging, although some (6/32) had delayed enhancement. The expression rate of HMB-45 (human melanoma black monoclonal antibody) was 100% (32/32). Histological classification in 22 cases (22/32) was epithelioid angiomyolipoma (AML), three (3/32) were clear cell "sugar" tumours (CCSTs), two (2/32) were lymphangioleiomyomatosis (LAM), and two (2/32) were clear cell myomelanocytic tumours of the falciform ligament/ligamentum teres (CCMMT). Three tumours did not have a specific classification. CONCLUSION Knowledge of dynamic CT, MRI, and clinicopathological characteristics could help improve the diagnosis of PEComa.
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Affiliation(s)
- Y Tan
- Department of MRI, First Clinical Medical College, Shanxi Medical University, Taiyuan, Shanxi Province, China
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17
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Tan Y, Xiao EH. Hepatic perivascular epithelioid cell tumor (PEComa): dynamic CT, MRI, ultrasonography, and pathologic features--analysis of 7 cases and review of the literature. Abdom Radiol (NY) 2012; 37:781-7. [PMID: 22278345 DOI: 10.1007/s00261-012-9850-1] [Citation(s) in RCA: 33] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]
Abstract
OBJECTIVE To evaluate the dynamic CT, MRI, ultrasonography, and pathologic features of hepatic perivascular epithelioid cell tumor (PEComa), improving the understanding and diagnosis of the tumor. METHODS A retrospective analysis of CT, MRI, ultrasonography, and pathologic features of 7 hepatic PEComas diagnosed by pathology during 1st January 2005 to 1st September 2011 in our hospital. RESULTS The performance of dynamic CT, MRI, and ultrasonography revealed that lesions were regular masses with well-defined borders, the maximum diameters were 2.5-8.5 cm (mean = 4 cm), density was homogeneous, contrast-enhanced CT and MRI showed the lesions were significantly and heterogeneously enhanced on arterial phase, less enhanced on portal venous phase, and slightly hypodense on delayed phase. One patient had multiple hepatic lesions and had delayed enhancement. There were no backgrounds of hepatitis and cirrhosis, enlarged lymph nodes, or distant metastases. Pathology showed the gross appearance of the tumor was smooth. Tumor cells were round or polygonal, with clear boundaries and clear membranes, and had abundant translucent cytoplasm. Nuclei were round, with medium size. Tumor cells were epithelial-like cells and arranged in dense sheets. Immunohistochemistry showed that most of them were positive in HMB45 and MelanA, S-100, SMA, while negative in CgA, Syn, CK, CD117, CD10, and CD34. CONCLUSIONS Dynamic CT, MRI, ultrasonography, and pathology of PEComa had some characteristics of benign tumor's performance. Enhanced scan showed PEComa quickly enhanced on arterial phase and enhanced less on portal venous phase. Knowing these characteristics could help to improve the understanding and diagnosis of hepatic PEComa.
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Affiliation(s)
- Yan Tan
- Department of Radiology, Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan Province, China
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18
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Yamada Y, Yamamoto H, Ohishi Y, Nishiyama K, Fukuhara M, Saitou T, Tsuneyoshi M, Oda Y. Sclerosing variant of perivascular epithelioid cell tumor in the female genital organs. Pathol Int 2011; 61:768-72. [PMID: 22126387 DOI: 10.1111/j.1440-1827.2011.02737.x] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
Abstract
Perivascular epithelioid cell tumor (PEComas), other than angiomyolipoma, clear cell 'sugar' tumor of the lung, and lymphangioleiomyomatosis, is an uncommon mesenchymal neoplasm that arises in the soft tissue and visceral organs. We report herein two cases of sclerosing PEComa; a distinctive variant of PEComa, which is characterized by extensive stromal hyalinization, occurring in the uterus and broad ligament. The patients were 34- and 51-year-old females with no family history of tuberous sclerosis complex. Macroscopically, the tumors had white to gray cut surfaces and were microscopically composed of predominantly spindle- to polygon-shaped cells with clear to slightly eosinophilic cytoplasm and pleomorphic nuclei focally arranged in a perivascular pattern, accompanied by marked stromal hyalinization. These tumor cells were immunohistochemically positive for HMB45 and α-smooth muscle actin. Although this variant of PEComa is very rare, this entity should be considered as a potential primary neoplasm of the female genital organs.
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Affiliation(s)
- Yuichi Yamada
- Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
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19
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Lee M, Cho KJ, Yu C, Park Y, Kim JC, Kim J, Yu E, Kim MJ. Perivascular epithelioid cell tumor of the sigmoid colon with transcription factor E3 expression. Ann Diagn Pathol 2011; 16:306-11. [PMID: 21546294 DOI: 10.1016/j.anndiagpath.2011.01.007] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/24/2010] [Revised: 12/28/2010] [Accepted: 01/19/2011] [Indexed: 01/26/2023]
Abstract
We describe here a 62-year-old woman who presented with a perivascular epithelioid cell tumor arising in the sigmoid colon. Computed tomography revealed a 5-cm-sized intraluminal fungating mass. Histologically, the tumor consisted of plump, epithelioid cells with abundant clear-to-lightly eosinophilic cytoplasm and round nuclei, arranged in an alveolar or trabecular pattern. The tumor cells were strongly positive for HMB-45 and TFE3, but negative for vimentin, cytokeratin, smooth muscle actin, S100 protein, CD117, CD34, synaptophysin, chromogranin, CD10, hepatocyte antigen, CD1a, and desmin. The tumor cells had a high Ki-67 labeling index (up to 20%). Fluorescent in situ hybridization showed no evidence of the EWS rearrangement. Based on these histologic and immunohistochemical features, our patient was diagnosed with a perivascular epithelioid cell tumor of the sigmoid colon.
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Affiliation(s)
- Miji Lee
- Department of Pathology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, South Korea
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Xie FL, Song YN, Qu LJ, Yu YH, Zheng ZY. Clinicopathologic features of perivascular epithelioid cell tumor of the pancreas. Shijie Huaren Xiaohua Zazhi 2011; 19:964-968. [DOI: 10.11569/wcjd.v19.i9.964] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
AIM: To investigate the clinicopathologic features, diagnosis, treatment and prognosis of perivascular epithelioid cell tumor (PEComa) of the pancreas.
METHODS: One case of PEComa of the pancreas was investigated by light microscopy and immunohistochemistry. A literature review was performed to summarize the characteristics of the disease.
RESULTS: The tumor was located in the head of the pancreas. Microscopically, the lesion was composed of thick or thin blood vessels and nest- or slice-shaped cells around the blood vessels. The tumor cells were huge, showed different polygons and had abundant clear to eosinophilic, granular cytoplasm. The nuclei were polymorphic and no mitoses were observed. Immunohistochemistrically, the tumor cells were strongly positive for HMB45, Melan-A, SMA, HHF35 and vimentin, weakly positive for D2-40 and S-100, and negative for Syn, CK (Pan), CD117, CD34, insuin, somatostatin, gastrin, calcitonin, α-hCG, ACTH, serotonin, PP, VIP and glucagon.
CONCLUSION: Pancreatic PEComa is a mesenchymal tumor with undetermined biological behavior and has unique histological, immunohistochemical and ultrastructural features. There are no definitely diagnostic criteria currently available to differentiate malignant and benign pancreatic PEComa. Current management has relied on surgery, and postoperative long-term close follow-up is needed.
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Freeman HJ, Webber DL. Perivascular epithelioid cell neoplasm of the colon. World J Gastrointest Oncol 2010; 2:205-8. [PMID: 21160599 PMCID: PMC2999178 DOI: 10.4251/wjgo.v2.i4.205] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/23/2009] [Revised: 12/19/2009] [Accepted: 12/26/2009] [Indexed: 02/05/2023] Open
Abstract
A 17-year-old female presented with rectal bleeding from an ulcerated sigmoid mass in 1994. Initial pathological evaluation revealed a rare clear cell neoplasm of the colon, possibly originating from kidneys, adrenals, lung or a gynecologic source as a metastatic lesion. Extensive imaging studies were negative, and over the next 15 years, she remained well with no recurrence. The original resected neoplasm was reviewed and re-classified as a perivascular epithelioid cell neoplasm (PEComa). Although the long-term natural history of PEComas requires definition, increased clinical and pathological awareness should lead to increased recognition of an apparently rare type of colonic neoplasm that likely occurs more often than is currently appreciated.
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Affiliation(s)
- Hugh James Freeman
- Hugh James Freeman, Department of Medicine (Gastroenterology), University of British Columbia, Vancouver BC V6T 1W5, Canada
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22
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Kumar S, Lal A, Acharya N, Sharma V. Perivascular epithelioid cell tumour (PEComa) of the inferior vena cava presenting as an adrenal mass. Cancer Imaging 2010; 10:77-9. [PMID: 20233679 PMCID: PMC2842178 DOI: 10.1102/1470-7330.2010.0005] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/14/2023] Open
Abstract
A 54-year-old woman had a mass located in the right suprarenal area. On imaging, this mass appeared to be infiltrating the inferior vena cava (IVC). Exploratory laparotomy was undertaken and excision of the tumour was done with the sleeve of the involved IVC. The mass turned out to be a perivascular epithelioid cell tumour (PEComa) on histopathological examination. This report describes previously reported cases of PEComa in brief and highlights the problems associated with the management of this tumour.
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Affiliation(s)
- Santosh Kumar
- Department of Urology, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India.
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Armah HB, Parwani AV. Perivascular epithelioid cell tumor. Arch Pathol Lab Med 2009; 133:648-54. [PMID: 19391667 DOI: 10.5858/133.4.648] [Citation(s) in RCA: 82] [Impact Index Per Article: 5.1] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 07/10/2008] [Indexed: 11/06/2022]
Abstract
Perivascular epithelioid cell tumors are mesenchymal neoplasms defined by the presence of histologically and immunohistochemically distinctive perivascular epithelioid cells. The perivascular epithelioid cell has no known normal tissue counterpart and coexpresses myoid and melanocytic markers. This tumor family shows marked female predominance and includes angiomyolipoma, clear cell sugar tumor, lymphangioleiomyomatosis, and a group of rare, morphologically and immunophenotypically similar tumors arising at a variety of visceral and soft tissue sites. This latter subset has been collectively termed perivascular epithelioid cell tumors-not otherwise specified. They are usually composed of epithelioid, but occasionally spindled, cells with clear to granular eosinophilic cytoplasm and focal perivascular accentuation. The mainstay of treatment is wide excision. Although most cases are benign, a subset behaves in a malignant fashion. Since few malignant cases have been reported, firm criteria for malignancy have yet to be established. This review focuses on the perivascular epithelioid cell tumors-not otherwise specified subset.
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Affiliation(s)
- Henry B Armah
- Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA.
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Polypoid PEComa in the rectum of a 15-year-old girl: case report and review of PEComa in the gastrointestinal tract. Am J Surg Pathol 2009; 33:475-82. [PMID: 19092636 DOI: 10.1097/pas.0b013e31819003d1] [Citation(s) in RCA: 38] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
Abstract
PEComa of the gastrointestinal tract, composed of perivascular epithelioid cells with myomelanocytic differentiation, is rare with previous literature limited to 16 case reports. There is a marked female preponderance and approximately one-third of the cases occur in the pediatric age group. We report PEComa with lymph node involvement occurring in the rectum of a 15-year-old girl, treated by surgical resection and adjuvant chemotherapy. The patient is well at 9 months follow-up with neither radiologic nor endoscopic evidence of recurrence. We review the differential diagnosis of intestinal PEComa, which includes malignant melanoma, epithelioid gastrointestinal stromal tumors, clear cell sarcoma of soft parts, alveolar soft part sarcoma, leiomyosarcoma with HMB45 expression, and paraganglioma. Immunohistochemistry can rule out many of these morphologically similar tumors but differentiation from clear cell sarcoma may require reverse transcription-polymerase chain reaction. We discuss the determination of pathologic features indicative of malignancy in PEComa, which is complicated in the gastrointestinal tract due to the small number of cases, variability of pathologic features reported, and inconsistent reporting of outcome. All 4 tumors reporting early recurrence or progression were greater than 5 cm in size and had areas of coagulative tumor necrosis. In addition, high nuclear grade and lymphovascular invasion were seen in 2 of these 4 cases. We propose that a minimum dataset for gastrointestinal PEComa should include these features along with mitotic count, infiltrative border, and tumor stage analogous to that used in colorectal carcinoma.
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Shi HY, Wei LX, Sun L, Guo AT. Clinicopathologic analysis of 4 perivascular epithelioid cell tumors (PEComas) of the gastrointestinal tract. Int J Surg Pathol 2009; 18:243-7. [PMID: 19124450 DOI: 10.1177/1066896908330481] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/14/2023]
Abstract
This study describes the clinical, histologic, and immunohistochemical features of four cases of GI PEComa. The size of the tumors ranged from 3.5 to 6.0cm in diameter, and all were located in wall of the large bowel. Microscopically, the tumors were characterized by an epithelioid arrangement of tumor cells, which had abundant clear to pale eosinophilic granular cytoplasm, vesicular nuclei and prominent nucleoli. The stroma was rich in capillaries, a sinusoidal vasculature and thick-walled blood vessels. Mitotic figures were generally rare. Immunohistochemically, the tumors were positive for Vimentin (4/4), HMB-45 (4/4), Melan-A(4/4),alpha-smooth muscle actin (4/4), and desmin (3/4). The patients have been well with no evidence of disease at 8, 15, 32 and 36 months,respectively, after the surgical operation. GI tract PEComas should be regarded as tumors of an uncertain malignant potential until long-term outcome data for a larger number of patients become available.
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Affiliation(s)
- Huai-yin Shi
- Department of Pathology, The Chinese PLA General Hospital, Beijing, China.
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Akitake R, Kimura H, Sekoguchi S, Nakamura H, Seno H, Chiba T, Fujimoto S. Perivascular epithelioid cell tumor (PEComa) of the liver diagnosed by contrast-enhanced ultrasonography. Intern Med 2009; 48:2083-6. [PMID: 20009396 DOI: 10.2169/internalmedicine.48.2133] [Citation(s) in RCA: 25] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/04/2023] Open
Abstract
Perivascular epithelioid cell (PEC) is a unique cell which expresses both myogenic and melanocytic markers, and forms PEComa. A 36-year-old woman presented with a 35 mm-diameter liver tumor. MRI showed poor fat component in the tumor. Contrast-enhanced ultrasonography using the newly developed enhancing reagent, Sonazoid, clearly demonstrated early-phase enhancement of the tumor and rapid drainage of the reagent to veins, suggesting a PEComa. Lateral segmentectomy of the liver was performed. Histologically, epithelioid tumor cells around the vessels were immunostained with both HMB-45 and alpha-smooth muscle actin, confirming the diagnosis of PEComa. No recurrence has been found for 18 months following the operation.
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Affiliation(s)
- Reiko Akitake
- Division of Gastroenterology, Kyoto First Red Cross Hospital, Kyoto
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Torii I, Kondo N, Takuwa T, Matsumoto S, Okumura Y, Sato A, Tanaka F, Nishigami T, Hasegawa S, Tsujimura T. Perivascular epithelioid cell tumor of the rib. Virchows Arch 2008; 452:697-702. [PMID: 18437415 DOI: 10.1007/s00428-008-0612-y] [Citation(s) in RCA: 18] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/15/2007] [Revised: 03/18/2008] [Accepted: 03/27/2008] [Indexed: 02/07/2023]
Abstract
We present a rare case of perivascular epithelioid cell tumor (PEComa) in the right 6th rib of a 28-year-old man. A plain computed tomography scan showed a round osteolytic lesion in the right 6th rib. The resected tissue contained a globular-shaped, soft tumor. Histologically, the tumor was rich in vasculature and exclusively composed of perivascular epithelioid cells with clear cytoplasm. Immunohistochemically, the tumor expressed diffusely a melanocyte marker, human melanoma black-45, and focally a myogenic marker, alpha-smooth muscle actin, but not an epithelial marker, AE1/AE3. Fontana-Masson-positive melanin pigments were present and c-kit receptor tyrosine kinase (CD117), involved in the development of melanocytes but not myogenic cells, was expressed in tumor cells. These findings indicate that the tumor is PEComa with some differentiation into melanocytes. Notably, owing to the unique location of the occurrence, the tumor occupied bone marrow tissues of the rib, resulting that the tumor has the potential for hematogenous metastasis. In spite of the lack of cells with severe atypia, necrosis, and numerous mitoses, tumor cells invaded into surrounding tissues and overexpressed cyclin D1. To the best of our knowledge, this is the first case report of PEComa arising from the rib with the signs of malignant potential.
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Affiliation(s)
- Ikuko Torii
- Department of Pathology, Hyogo College of Medicine, 1-1 Mukogawa, Nishinomiya, Hyogo 663-8501, Japan
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Perivascular epithelioid cell tumor (PEComa) of the uterus: an outcome-based clinicopathologic analysis of 41 reported cases. Adv Anat Pathol 2008; 15:63-75. [PMID: 18418088 DOI: 10.1097/pap.0b013e31816613b0] [Citation(s) in RCA: 71] [Impact Index Per Article: 4.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/14/2023]
Abstract
The uterus and retroperitoneum have emerged as the most frequently reported anatomic sites of origin of perivascular epithelioid cell tumors (PEComas), a poorly defined neoplasm that is characterized by varying amounts of spindle and epithelioid cells with clear to eosinophilic cytoplasm that display immunoreactivity for melanocytic markers, most frequently HMB-45. Published reports on 41 previously reported uterine PEComas are reviewed in this report. Of these 41 cases, 31 originating in the corpus and for which there was adequate follow-up information (or clinical malignancy) were categorized into 2 groups: (1) a malignant group that was comprised of cases associated with patient death of disease and/or clinical malignancy as evidenced by local and/or distant extension outside of the uterus (n=13, group 1) and (2) a "nonmalignant" group of cases in which neither of the above features were present (n=18, group 2). Groups 1 and 2 did not significantly differ regarding duration of follow-up (25 mo vs. 24.3 mo, respectively, P=0.9) or patient age (45.61 y vs. 43.46 y, respectively, P=0.7). Five of the group 1 patients experienced distant (extra-abdominal) metastases. The group 1 tumors were significantly larger than the group 2 tumors (averages 9.6 cm vs. 4.67 cm respectively, P=0.04); however, there were no size thresholds that, in of themselves, reliably classified 75% or more of the cases in both groups. Coagulative necrosis was highly associated with group 1, being present in 82% of cases as compared with only 11.8% of group 2 cases (P=0.0002). Eighty-eight percent of the group 2 cases had a mitotic rate of <or=1/10 high power fields (HPF) as compared with 40% of group 1 cases (P=0.01). However, the absence of mitotic activity did not rule out malignancy, as 2 of the group 1 cases lacked mitotic activity and displayed metastases. Twenty-five percent, 49%, 56%, 73%, and 100% of tested cases displayed immunoreactivity for CD10, desmin, vimentin, smooth muscle actin, and caldesmon, respectively. PEComas are tumors of uncertain histogenesis and malignant potential that seem to display some morphologic and immunophenotypic overlap with smooth muscle neoplasia. A mitotic count of >1/10 HPF and/or coagulative necrosis are features that, if present, raise the definite potential for aggressive behavior.
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Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F. PEComas: the past, the present and the future. Virchows Arch 2007; 452:119-32. [PMID: 18080139 PMCID: PMC2234444 DOI: 10.1007/s00428-007-0509-1] [Citation(s) in RCA: 368] [Impact Index Per Article: 20.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/07/2007] [Accepted: 09/06/2007] [Indexed: 01/04/2023]
Abstract
The perivascular epithelioid cell (PEC) is a cell type constantly present in a group of tumors called PEComas. PEC expresses myogenic and melanocytic markers, such as HMB45 and actin. Recently, recurrent chromosomal alterations have been demonstrated in PEC. At present, PEComa is a widely accepted entity. In the past 10 years, the use of this term has allowed to report and describe numerous cases permitting to start highlighting the biology of this group of lesions. PEComas are related to the genetic alterations of tuberous sclerosis complex (TSC), an autosomal dominant genetic disease due to losses of TSC1 (9q34) or TSC2 (16p13.3) genes which seem to have a role in the regulation of the Rheb/mTOR/p70S6K pathway. There are some open questions about PEComas regarding its histogenesis, the definition of epithelioid angiomyolipoma and the identification of the histological criteria of malignancy. An innovative therapeutic trial using rapamycin is under way for tumors occurring in TSC such as renal angiomyolipoma and lymphangioleiomyomatosis. Its success could provide the rationale for the use of the same drug in other lesions composed of PECs, especially in the malignant ones.
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Fang SH, Zhou LN, Jin M, Hu JB. Perivascular epithelioid cell tumor of the liver: A report of two cases and review of the literature. World J Gastroenterol 2007; 13:5537-9. [PMID: 17907305 PMCID: PMC4171296 DOI: 10.3748/wjg.v13.i41.5537] [Citation(s) in RCA: 28] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
Perivascular epithelioid cell tumor (PEComa) is a rare tumor which arises from mesenchymal tissues. It is predominant in the uterus, but very rare in the liver. To the best of our knowledge, less than 5 cases of PEComa of the liver have been reported. Herein we present two pathologically proven cases of PEComa of the liver, retrospectively analyze their clinical and imaging features, and review the literature.
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Affiliation(s)
- Song-Hua Fang
- Department of Radiology, Sir Run Run Shaw Hospital, Zhejiang University, Hangzhou 310016, Zhejiang Province , China.
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Prasad SR, Sahani DV, Mino-Kenudson M, Narra VR, Humphrey PA, Menias CO, Chintapalli KN. Neoplasms of the Perivascular Epithelioid Cell Involving the Abdomen and the Pelvis. J Comput Assist Tomogr 2007; 31:688-96. [PMID: 17895778 DOI: 10.1097/rct.0b013e318031912f] [Citation(s) in RCA: 33] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/21/2022]
Abstract
Neoplasms of the perivascular epithelioid cell (PEComas) represent a recently described heterogeneous group of mesenchymal tumors characterized by the presence of specific histological, immunohistochemical, and ultrastructural findings. The PEComas encompass a family of neoplasms that include angiomyolipomas, clear cell sugar tumors, and lymphangioleiomyomatosis. The PEComas demonstrate a wide spectrum of clinicobiological behavior and imaging findings. Perivascular epithelioid cell, as the name implies, is a unique cell that is characterized by perivascular distribution and epithelioid morphology. Perivascular epithelioid cell consistently shows immunoreactivity to melanocytic and smooth muscle markers including HMB-45 and actin. Abdominopelvic PEComas are found at a variety of somatic and visceral locations including kidney, liver, pancreas, gastrointestinal tract, genitourinary tract, peritoneum, and retroperitoneum. A subset of patients with abdominopelvic PEComas manifests tuberous sclerosis complex. In this paper, we review the histological spectrum and discuss the imaging findings of the PEComas that involve the abdomen and pelvis.
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Affiliation(s)
- Srinivasa R Prasad
- Department of Radiology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
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Weinreb I, Howarth D, Latta E, Ghazarian D, Chetty R. Perivascular epithelioid cell neoplasms (PEComas): four malignant cases expanding the histopathological spectrum and a description of a unique finding. Virchows Arch 2007; 450:463-70. [PMID: 17377813 DOI: 10.1007/s00428-007-0378-7] [Citation(s) in RCA: 50] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/18/2006] [Revised: 01/24/2007] [Accepted: 01/26/2007] [Indexed: 10/23/2022]
Abstract
Four cases of malignant PEComas were stained with smooth muscle actin, muscle specific actin, desmin, human melanoma black-45, melan-A, microphthalmia transcription factor, S100 and cyclin D1. One case was studied by electron microscopy (EM). Tumour locations were the thigh, elbow, retroperitoneum and bladder in association with a urachal cyst. There were two men and two women; the average age was 51.3 years, and the size ranged from 5.0-23.0 cm. In three cases, 50-95% of the tumour was composed of pleomorphic sarcomatous areas. All cases had at least focal clear-cell areas. One case showed a continuous single layer of perivascular clear cells remote from the tumour, transitioning to invasive nests and to PEComa. EM demonstrated these cells in apposition to and in direct contact with the abluminal surface of the basal lamina of the capillaries. We suggest the term "pecosis" for these areas. All cases were positive for two or more melanocytic markers and for at least one actin. S100 and desmin were focally positive in one case. Cyclin D1 was positive in 3:4 cases. Four cases of malignant PEComa are described with the existence of a unique lesion (pecosis) in one case. These tumours may manifest largely as sarcomas appearing to be undifferentiated and should be considered in their differential diagnosis.
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Affiliation(s)
- Ilan Weinreb
- Department of Pathology, University Health Network, 200 Elizabeth Street, 11th Floor, Toronto, ON, M5G 2C4, Canada.
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