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Dougherty MI, Payne SC, Gupta A, Mattos JL. Perivascular epithelioid cell tumor (PEComa) of the pterygopalatine fossa. Clin Case Rep 2020; 8:553-558. [PMID: 32185058 PMCID: PMC7069881 DOI: 10.1002/ccr3.2676] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/05/2019] [Revised: 12/28/2019] [Accepted: 01/07/2020] [Indexed: 12/15/2022] Open
Abstract
Perivascular epithelioid cell tumors (PEComas) are a rare group of mesenchymal tumors associated with tuberous sclerosis. These tumors are typically treated with resection and rarely recur or exhibit malignant behavior. A 78-year-old woman presented with an incidentally discovered pterygopalatine fossa/retroantral mass. Excisional biopsy was performed and revealed pathology consistent with PEComa. Upon review of the literature, there have been 43 reported cases of PEComa of the head and neck. There is only one previously reported case of PEComa in the skull base, and none reported in the pterygopalatine fossa. Of note, the previously reported case of skull base PEComa involved an aggressive tumor with widespread metastasis. Here, we report the first case of a PEComa of the pterygopalatine fossa/retroantral region, which was treated conservatively. This rare pathology should be considered in the differential diagnosis for atypical skull base tumors.
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Affiliation(s)
- Michael I. Dougherty
- Department of Otolaryngology‐ Head and Neck SurgeryUniversity of Virginia School of MedicineCharlottesvilleVirginia
| | - Spencer C. Payne
- Department of Otolaryngology‐ Head and Neck SurgeryUniversity of Virginia School of MedicineCharlottesvilleVirginia
| | - Akriti Gupta
- Department of PathologyUniversity of Virginia School of MedicineCharlottesvilleVirginia
| | - Jose L. Mattos
- Department of Otolaryngology‐ Head and Neck SurgeryUniversity of Virginia School of MedicineCharlottesvilleVirginia
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Malignant perivascular epithelioid cell tumor mimicking jugular foramen schwannoma: A case report and literature review. Heliyon 2020; 6:e03200. [PMID: 32042962 PMCID: PMC7002787 DOI: 10.1016/j.heliyon.2020.e03200] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/05/2019] [Revised: 11/12/2019] [Accepted: 01/08/2020] [Indexed: 11/30/2022] Open
Abstract
Background Perivascular epithelioid cell tumors (PEComas) of the skull base are extremely rare. Here we report the first description of a malignant PEComa mimicking jugular foramen schwannoma and presenting as Collet-Sicard syndrome, and we review the previous literature on PEComas of the head, neck and skull base. Case description A 29-year-old woman presented with hoarseness, dysphagia, vomiting, and headache. She was first diagnosed with Collet-Sicard syndrome caused by thrombosis of the sigmoid and transverse sinuses. She was treated with anticoagulant therapy, and the hoarseness and paralysis of the accessory nerve improved. Later, at age 31, the hoarseness again worsened. At another hospital, enhanced computed tomography revealed a tumor in the jugular foramen extending to the neck and medially displacing the internal carotid artery. She was referred to our hospital for further examination and was diagnosed with jugular foramen schwannoma causing thrombosis of the sinuses. At the one-year follow-up, the tumor had grown rapidly and had started to surround the internal carotid artery. We therefore performed a tissue biopsy of the tumor in the jugular foramen and neck. Based on pathological analysis, we made a definitive diagnosis of malignant PEComa. Conclusions It may be extremely challenging to reach an accurate diagnosis of PEComa in the skull-base region, which can cause a delay in treatment initiation. When atypical clinical features for a skull-base tumor are found, we recommend preliminary biopsy to obtain a definitive diagnosis and initiate an appropriate treatment strategy as early as possible.
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Gebhart M, Coltofeanu A. PEComa of the talus: a unique case of a soft tissue tumor within bone. Acta Chir Belg 2019; 119:118-122. [PMID: 30774002 DOI: 10.1080/00015458.2017.1394658] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/27/2022]
Abstract
INTRODUCTION Perivascular epithelioid cell tumor (PEComa) is a family of rare mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells (PECs). These tumors have been described at multiple anatomic sites. PEComas presenting in bone are especially rare and they have been reported to be either primary or metastatic lesions. None of them is located at the level of the foot. PATIENT We report on a case of primary bone PEComa of the talus, the first one to be published to the best of our knowledge. Treatment and result: Limb sparing surgical treatment has been done using intralesional tumor removal, burring and application of argon beam at the tumor walls and primary filling of the tumor cavity by bone cement with so far absence of any tumor recurrence documented by multiple histological sections at second look operation nine months after primary surgery, where cement has been replaced by autologous bone graft, and by subsequent follow-up. CONCLUSIONS PEComa is a very rare tumor, and its presence in bone is especially rare. The here reported case of PEComa presenting at the level of the talus is, to the best of our knowledge, the first case to be reported in the literature.
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Affiliation(s)
- Michael Gebhart
- Service de chirurgie orthopédique, de l’Institut Bordet, Université libre de Bruxelles, Brussels, Belgium
| | - Andrei Coltofeanu
- Service de chirurgie orthopédique, Andrei Clinic Hospital, Regina Maria, Medicova, Bucarest, Romania
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Lazăr DC, Avram MF, Romoșan I, Văcariu V, Goldiș A, Cornianu M. Malignant hepatic vascular tumors in adults: Characteristics, diagnostic difficulties and current management. World J Clin Oncol 2019; 10:110-135. [PMID: 30949442 PMCID: PMC6441663 DOI: 10.5306/wjco.v10.i3.110] [Citation(s) in RCA: 22] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/13/2019] [Revised: 02/23/2019] [Accepted: 03/12/2019] [Indexed: 02/06/2023] Open
Abstract
Malignant vascular tumors of the liver include rare primary hepatic mesenchymal tumors developed in the background of a normal liver parenchyma. Most of them are detected incidentally by the increased use of performing imaging techniques. Their diagnosis is challenging, involving clinical and imaging criteria, with final confirmation by histology and immunohistochemistry. Surgery represents the mainstay of treatment. Liver transplantation (LT) has improved substantially the prognosis of hepatic epithelioid hemangioendothelioma (HEHE), with 5-year patient survival rates of up to 81%, based on the European Liver Intestine Transplantation Association-European Liver Transplant Registry study. Unfortunately, the results of surgery and LT are dismal in cases of hepatic angiosarcoma (HAS). Due to the disappointing results of very short survival periods of approximately 6-7 mo after LT, because of tumor recurrence and rapid progression of the disease, HAS is considered an absolute contraindication to LT. Recurrences after surgical resection are high in cases of HEHE and invariably present in cases of HAS. The discovery of reliable prognostic markers and the elaboration of prognostic scores following LT are needed to provide the best therapeutic choice for each patient. Studies on a few patients have demonstrated the stabilization of the disease in a proportion of patients with hepatic vascular tumors using novel targeted antiangiogenic agents, cytokines or immunotherapy. These new approaches, alone or in combination with other therapeutic modalities, such as surgery and classical chemotherapy, need further investigation to assess their role in prolonging patient survival. Personalized therapeutic algorithms according to the histopathological features, behavior, molecular biology and genetics of the tumors should be elaborated in the near future for the management of patients diagnosed with primary malignant vascular tumors of the liver.
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Affiliation(s)
- Daniela Cornelia Lazăr
- Department of Internal Medicine I, University Medical Clinic, University of Medicine and Pharmacy “Victor Babeş”, Timişoara 300041, Romania
| | - Mihaela Flavia Avram
- Department of Surgery X, 1st Surgery Clinic, University of Medicine and Pharmacy “Victor Babeş”, Timişoara 300041, Romania
| | - Ioan Romoșan
- Department of Internal Medicine I, University Medical Clinic, University of Medicine and Pharmacy “Victor Babeş”, Timişoara 300041, Romania
| | - Violetta Văcariu
- Department of Internal Medicine I, University Medical Clinic, University of Medicine and Pharmacy “Victor Babeş”, Timişoara 300041, Romania
| | - Adrian Goldiș
- Department of Gastroenterology and Hepatology, University of Medicine and Pharmacy “Victor Babeş”, Timişoara 300041, Romania
| | - Mărioara Cornianu
- Department of Pathology, University of Medicine and Pharmacy “Victor Babeş”, Timişoara 300041, Romania
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Tricard T, Lopez S, Lindner V, Jung JL. Bladder perivascular epithelioid cell tumors. AFRICAN JOURNAL OF UROLOGY 2018. [DOI: 10.1016/j.afju.2018.04.005] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/28/2022] Open
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Saluja K, Thomas J, Zhang S, Sturgis EM, Jain KS, Prieto VG, El-Naggar AK, Bell D. Malignant perivascular epithelioid cell tumor of the oropharynx with strong TFE3 expression mimicking alveolar soft part sarcoma: a case report and review of the literature. Hum Pathol 2018; 76:149-155. [DOI: 10.1016/j.humpath.2017.11.016] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/04/2017] [Revised: 11/12/2017] [Accepted: 11/17/2017] [Indexed: 12/17/2022]
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Liu W, Meng Z, Liu H, Li W, Wu Q, Zhang X, E C. Hepatic epithelioid angiomyolipoma is a rare and potentially severe but treatable tumor: A report of three cases and review of the literature. Oncol Lett 2016; 11:3669-3675. [PMID: 27313680 PMCID: PMC4888047 DOI: 10.3892/ol.2016.4443] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/29/2015] [Accepted: 03/01/2016] [Indexed: 12/14/2022] Open
Abstract
Hepatic epithelioid angiomyolipoma (EAML) is a rare type of hepatic tumor. Due to a lack of adequate understanding about this tumor, hepatic EAML is often misdiagnosed as other diseases with similar clinical characteristics such as hepatic cancer. In the present study, 3 cases of hepatic EAML are reported, and the main clinicopathological features of this disease are presented, based on a literature search that included articles published in English between February 2000 and September 2014. A total of 24 hepatic EAML cases were considered, of which, 17 were females and 4 presented multiple liver lesions. Among the patients with single lesions, 2 underwent surgery and relapsed after 5 months and 9 years, respectively. Immunohistochemical staining was positive for human melanoma black-45 in the present 3 cases. The aim of the present study was to focus the attention of clinicians on this type of hepatic tumor in order to improve its diagnosis and treatment.
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Affiliation(s)
- Wentao Liu
- Department of Hepatobiliary and Pancreatic Surgery, China-Japan Union Hospital of Jilin University, Changchun, Jilin 130033, P.R. China
| | - Zihui Meng
- Department of Hepatobiliary and Pancreatic Surgery, China-Japan Union Hospital of Jilin University, Changchun, Jilin 130033, P.R. China
| | - Hongyu Liu
- Department of Hepatobiliary and Pancreatic Surgery, China-Japan Union Hospital of Jilin University, Changchun, Jilin 130033, P.R. China
| | - Wei Li
- Department of Hepatobiliary and Pancreatic Surgery, China-Japan Union Hospital of Jilin University, Changchun, Jilin 130033, P.R. China
| | - Qiong Wu
- Department of Pathology, China-Japan Union Hospital of Jilin University, Changchun, Jilin 130033, P.R. China
| | - Xuewen Zhang
- Department of Hepatobiliary and Pancreatic Surgery, China-Japan Union Hospital of Jilin University, Changchun, Jilin 130033, P.R. China
| | - Changyong E
- Department of Hepatobiliary and Pancreatic Surgery, China-Japan Union Hospital of Jilin University, Changchun, Jilin 130033, P.R. China
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Llamas-Velasco M, Requena L, Mentzel T. Cutaneous perivascular epithelioid cell tumors: A review on an infrequent neoplasm. World J Methodol 2016; 6:87-92. [PMID: 27019799 PMCID: PMC4804255 DOI: 10.5662/wjm.v6.i1.87] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/29/2015] [Revised: 12/15/2015] [Accepted: 02/17/2016] [Indexed: 02/06/2023] Open
Abstract
“Perivascular epithelioid cutaneous” cell tumors (PEComa) are a family of mesenchymal tumors with shared microscopic and immunohistochemical properties: They exhibit both smooth muscle cell and melanocytic differentiation. Non-neoplastic counterpart of PEComa’s cells are unknown, as well as the relationship between extracutaneous PEComa and primary cutaneous ones. We will review the clinical setting, histopathologic features, chromosomal abnormalities, differential diagnosis and treatment options for cutaneous PEComa.
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PEComa: morphology and genetics of a complex tumor family. Ann Diagn Pathol 2015; 19:359-68. [PMID: 26144278 DOI: 10.1016/j.anndiagpath.2015.06.003] [Citation(s) in RCA: 150] [Impact Index Per Article: 15.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/23/2015] [Accepted: 06/04/2015] [Indexed: 12/20/2022]
Abstract
Perivascular epithelioid cell tumors, or PEComas, are mesenchymal neoplasms composed of histologically and immunohistochemically distinctive epithelioid or spindle cells, which are immunoreactive for both smooth muscle and melanocytic markers. The cells in PEComas are typically arranged around blood vessels and appear to form the vessel wall, often infiltrating the smooth muscle of small- to medium-sized vessels. Periluminal cells are usually epithelioid and the more peripheral cells are spindle shaped. The cells have small, round to oval nuclei, sometimes with focal nuclear atypia, and clear to eosinophilic cytoplasm, and no counterpart normal cell has been identified. The PEComa "family" now includes angiomyolipoma, pulmonary clear cell "sugar" tumor and lymphangioleiomyomatosis, primary extrapulmonary sugar tumor, clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres, abdominopelvic sarcoma of perivascular epithelioid cells, and other tumors with similar features at various sites that are simply termed PEComa. Some PEComas occur in patients with tuberous sclerosis complex and share the genetic abnormalities. There is a behavioral spectrum from benign to frankly malignant, and histologic criteria have been proposed for assessing malignant potential. The differential diagnosis can include carcinomas, smooth muscle tumors, other clear cell neoplasms, and adipocytic tumors. PEComas constitute a genetically diverse group that includes neoplasms harboring TFE3 gene rearrangements and those with TSC2 mutations, indicating alternative tumorigenic pathways. Recent advances in therapy of malignant PEComas relate to increased knowledge of specific genetic changes and their effects on metabolic pathways that are susceptible to specific interventions. We review PEComas, emphasizing the diagnostic spectrum and recent immunohistochemical and genetic findings.
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Yamada S, Nabeshima A, Noguchi H, Nawata A, Nishii H, Guo X, Wang KY, Hisaoka M, Nakayama T. Coincidence between malignant perivascular epithelioid cell tumor arising in the gastric serosa and lung adenocarcinoma. World J Gastroenterol 2015; 21:1349-1356. [PMID: 25632212 PMCID: PMC4306183 DOI: 10.3748/wjg.v21.i4.1349] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/23/2014] [Revised: 07/18/2014] [Accepted: 09/12/2014] [Indexed: 02/06/2023] Open
Abstract
A 4-mo history of both epigastralgia and back pain was presented in a 39-year-old male. Computed tomography showed right lung nodule and abdominal mass attached to the gastric wall, measuring approximately 30 mm and 70 mm in diameter. Since biopsy samples from the lung and abdomen revealed poorly differentiated adenocarcinoma and malignant tumor, clinicians first interpreted the abdominal mass as metastatic carcinoma, and a right lower lobectomy with following resection of the mass was performed. Gross examination of both lesions displayed gray-whitish to yellow-whitish cut surfaces with hemorrhagic and necrotic foci, and the mass attached to the serosa of the lesser curvature on the gastric body. On microscopic examination, the lung tumor was composed of a proliferation of highly atypical epithelial cells having abundant eosinophilic cytoplasm, predominantly arranged in an acinar or solid growth pattern with vessel permeation, while the abdominal tumor consisted of sheets or nests with markedly atypical epithelioid cells having pleomorphic nuclei and abundant eosinophilic to clear cytoplasm focally in a radial perivascular or infiltrative growth pattern. Immunohistochemically, the latter cells were positive for HMB45 or α-smooth muscle actin, but the former ones not. Therefore, we finally made a diagnosis of malignant perivascular epithelioid cell tumor (PEComa) arising in the gastric serosa, combined with primary lung adenocarcinoma. Furthermore, small papillary carcinoma of the thyroid gland was identified. The current case describes the coincidence of malignant PEComa with other carcinomas, posing a challenge in distinction from metastatic tumor disease.
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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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Malignant PEComa involving the mandible: report of a unique case. Oral Surg Oral Med Oral Pathol Oral Radiol 2014; 117:e3-8. [DOI: 10.1016/j.oooo.2012.03.018] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/03/2012] [Accepted: 03/16/2012] [Indexed: 01/21/2023]
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Desy NM, Bernstein M, Nahal A, Aziz M, Kenan S, Turcotte RE, Kahn LB. Primary perivascular epithelioid cell neoplasm (PEComa) of bone: report of two cases and review of the literature. Skeletal Radiol 2012; 41:1469-74. [PMID: 22752420 DOI: 10.1007/s00256-012-1479-1] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/25/2012] [Revised: 06/10/2012] [Accepted: 06/12/2012] [Indexed: 02/02/2023]
Abstract
Primary perivascular epithelioid cell neoplasms (PEComas) of bone are rare mesenchymal tumors. Histologically, they are composed predominantly of perivascular epithelioid cells and have the capacity to metastasize. PEComas have been reported within intra-abdominal and intra-pelvic organs. To the best of our knowledge, only seven primary PEComas of bone have been described in the English literature. We present two cases of PEComa of bone, one arising from the distal fibula and one from the acetabulum. Both were treated by surgical excision and one also received adjuvant chemotherapy.
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Affiliation(s)
- Nicholas M Desy
- Department of Orthopaedic Surgery, McGill University Health Center, 1650 Cedar Avenue, Montreal, Quebec, Canada.
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"Malignant" perivascular epithelioid cell neoplasm: risk stratification and treatment strategies. Sarcoma 2012; 2012:541626. [PMID: 22619565 PMCID: PMC3350998 DOI: 10.1155/2012/541626] [Citation(s) in RCA: 126] [Impact Index Per Article: 9.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/02/2011] [Accepted: 02/08/2012] [Indexed: 02/07/2023] Open
Abstract
Purpose. Perivascular epithelioid cell tumors (PEComas) are a rare collection of tumors characterized by a myomelanocytic phenotype, and PEComas occurring in “nonclassic” anatomic distributions are known as perivascular epithelioid cell tumor not otherwise specified (PEComa-NOS). This review aims to compile and analyze cases of PEComa-NOS in an effort to better define their natural history.
Design. We evaluated all 234 cases of PEComa-NOS reported in the English literature, extracting information regarding diagnostic features, treatment approaches, and outcomes. Multivariate analysis of a number of variables evaluable on pathologic review was performed to refine preexisting risk stratification criteria. Outcomes for patients receiving nonsurgical treatment are also reported.
Results. Primary tumor size ≥5 cm (P = 0.02) and a high (1/50 HPF) mitotic rate (P < 0.0001) were the only factors significantly associated with recurrence following surgical resection. Cytotoxic chemotherapy and radiation therapy have shown little benefit in treating PEComa-NOS; mTOR inhibition is emerging as a treatment option.
Conclusion. Progress has been made in understanding the natural history and molecular biology of PEComa-NOS. This review further clarifies risk of recurrence in this disease, allowing clinicians to better risk stratify patients. Further work should focus on applying this knowledge to making treatment decisions for patients with this disease.
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Pianezza ML, Slatnik J, Evans HJ. Clear cell myomelanocytic tumour: minimally invasive treatment of a rare bladder tumour. Can Urol Assoc J 2011; 2:230-4. [PMID: 18682770 DOI: 10.5489/cuaj.606] [Citation(s) in RCA: 13] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/18/2022]
Abstract
Clear cell myomelanocytic tumours are extremely rare neoplastic growths considered to be members of the family of perivascular epithelioid cell tumours (PEComas), which have in common the coexpression of melanocytic and smooth muscle immunohistochemical markers. These tumours are known to be ubiquitous with uncertain tumour biology and to have unpredictable clinical behaviour. They have been reported in the genitourinary tract, including the kidney and prostate. There are only 3 reported cases of clear cell myomelanocytic tumours originating in the urinary bladder. We report a case of a 24-year-old woman with chronic pelvic pain who underwent laparoscopic partial cystectomy and total excision of a bladder mass. Pathological examination revealed primary PEComa of the urinary bladder. Subsequent follow-up procedures, including cystoscopy and imaging, have not revealed any evidence of disease recurrence. The patient remains clinically free of disease 3 months after surgery.
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Affiliation(s)
- Michael L Pianezza
- Royal Alexandra Hospital, Division of Urology, Department of Surgery, and Department of Pathology, University of Alberta, Edmonton, Alta
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PEComa of the Upper Extremity: A Unique Case and Description of an Initial Response to Neoadjuvant Chemotherapy. Sarcoma 2011; 2007:53056. [PMID: 18274609 PMCID: PMC2225462 DOI: 10.1155/2007/53056] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/02/2005] [Revised: 06/01/2007] [Accepted: 08/15/2007] [Indexed: 01/10/2023] Open
Abstract
Purpose. Tumors of the perivascular epithelial cell tumor (PEComa), first described in 1992, represent a rare soft tissue neoplasm of varying malignant potential. Cases of PEComa have been previously described in a few somatic and visceral sites, most notably in the gastrointestinal tract, genitourinary tract, and one extremity case in the thigh. To date, most malignant cases of PEComa have been resistant to chemotherapy, and as such, an appropriate therapy is not known.
Case report. Here we describe the first case of PEComa of the upper extremity. Open biopsy revealed a high-grade malignant lesion, and the patient subsequently underwent both neoadjuvant therapy with doxorubicin, ifosfamide and mensa, and radiation therapy prior to wide surgical resection.
After six cycles of chemotherapy, the tumor underwent an
80% reduction in size. Subsequent neoadjuvant radiation therapy of 5000 cGy did not further reduce the size of the tumor. Following limb sparing radical resection, pathology showed 20% necrosis within a high-grade malignant lesion. Twenty one months after beginning treatment, the patient shows no sign of local recurrence, but metastatic disease was confirmed after resection of a lung nodule.
Conclusion. Given the favorable albeit partial response seen in this patient, the course of therapy outlined here may represent a good starting point for neoadjuvant treatment in a tumor with a historically bleak prognosis. In addition, the diagnosis of PEComa must now be entertained in the differential diagnosis of upper extremity soft tissue sarcoma.
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Bandhlish A, Leon Barnes E, Rabban JT, McHugh JB. Perivascular epithelioid cell tumors (PEComas) of the head and neck: report of three cases and review of the literature. Head Neck Pathol 2011; 5:233-40. [PMID: 21626310 PMCID: PMC3173543 DOI: 10.1007/s12105-011-0268-9] [Citation(s) in RCA: 28] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/12/2011] [Accepted: 05/14/2011] [Indexed: 11/28/2022]
Abstract
PEComas are a family of neoplastic lesions that share overlapping morphology, immunohistochemistry, and ultrastructure that include angiomyolipoma, lymphangioleiomyomatosis, clear cell "sugar" tumor of the lung as well as similar tumors occurring in a variety of visceral, cutaneous and soft tissue sites throughout the body. The defining histopathological features are epithelioid cells with a perivascular distribution containing clear to pale eosinophilic granular cytoplasm and a round-to-oval centrally located nucleus with an inconspicuous nucleolus. Immunohistochemically, coexpression of melanocytic (HMB-45 and/or Melan-A) and myoid markers are characteristic. In the present study, we describe three PEComas occurring in the head and neck (nasal cavity and larynx) and discuss the behavior of these distinctive tumors and review the literature of head and neck PEComas. The importance of recognizing this entity will ensure its consideration in the differential diagnosis of tumors of the head and neck with a similar morphology. The histogenesis of PEComas still remains elusive and additional cases with a prolonged follow up remain important to accurately determine the behavior of these distinctive tumors. Complete surgical excision still remains the treatment of choice for histologically benign PEComas.
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Affiliation(s)
| | - E. Leon Barnes
- University of Pittsburgh Medical Center, Pittsburgh, PA USA
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Perivascular migration: a clue to the histogenesis of PEComas? Am J Dermatopathol 2011; 33:528-9. [PMID: 21587036 DOI: 10.1097/dad.0b013e3181f87d52] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
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Abstract
The connection between angiomyolipoma (AML) of the kidney, clear cell sugar tumor (CCST) of the lung, and pulmonary lymphangioleiomyoma (LAM), was progressively discovered because of the histologic and immunophenotypic similarities between the three tumors and their frequent association with tuberous sclerosis complex (TSC). Morphologically, analogous lesions found in other locations are composed of the unifying cell, the perivascular epithelioid cell (PEC). PEC tumors (or PEComas), other than AML, CCST, and LAM, are not associated with TSC and typically occur in middle-aged adult females. These neoplasms are composed of nests and fascicles of clear to granular epithelioid and/or spindled cells with a consistent arrangement around blood vessels. Characteristically, the cells express both melanocytic (usually HMB45) and myogenic (typically actin) markers. Although the most common sites are the gastrointestinal and genitourinary tracts, approximately 23 cases, to date, of PEComas arising in the skin have been reported. Primary cutaneous PEComas also have a predilection for adult females and most often present as a painless mass on the extremities. In contrast to other sites, the myogenic marker most commonly expressed in PEComas of the skin is desmin. Most reported cutaneous PEComas follow a benign course, however, a malignant case has been reported. Surgical excision is currently the mainstay of treatment.
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Affiliation(s)
- Sarah N Walsh
- Cutaneous Pathology, WCP Laboratories, Inc, 2326 Millpark Dr., St. Louis, MO 63043, USA.
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Folpe AL, Kwiatkowski DJ. Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol 2009; 41:1-15. [PMID: 19604538 DOI: 10.1016/j.humpath.2009.05.011] [Citation(s) in RCA: 261] [Impact Index Per Article: 16.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/07/2009] [Revised: 05/21/2009] [Accepted: 05/28/2009] [Indexed: 12/12/2022]
Abstract
This review article summarizes our current understanding of the clinical, pathologic, immunohistochemical, and genetic aspects of perivascular epithelioid cell neoplasms, a rare group of related tumors defined by both morphologic and immunophenotypic criteria.
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Affiliation(s)
- Andrew L Folpe
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
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21
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Priola AM, Priola SM, Cataldi A, Marci V, Fava C. Acute abdomen as an unusual presentation of hepatic PEComa. A case report. TUMORI JOURNAL 2009; 95:123-8. [PMID: 19366072 DOI: 10.1177/030089160909500124] [Citation(s) in RCA: 13] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/25/2022]
Abstract
Perivascular epithelioid cell (PEC) tumors (or PEComas) are myomelanocytic lesions defined by coexpression of melanocytic and muscle markers, suggesting dual differentiation. They are rare mesenchymal tumors and include subtypes with distinct clinical features: angiomyolipoma, lymphangioleiomyomatosis, and clear cell "sugar" tumors of the lung, pancreas and uterus. Consequent upon the World Health Organization's recognition of PEC-derived tumors as a distinct entity, an increasing number of reports has documented PEComas arising at various anatomical locations. Clear cell myomelanocytic tumors of the falciform ligament/ligamentum teres (CCMTs) represent a rare variant of the PEComas. These hepatic PEComas, different from angiomyolipoma of the liver, pose a clinical, radiological and morphological diagnostic challenge. Because of their rarity, the clinical features and biological behavior of these tumors have yet to be established. We experienced our first case of CCMT in a 36-year-old woman who presented to our emergency department with a 3-day history of abdominal discomfort and progressive growth of an epigastric bulk. Intralesional hemorrhage was causing abdominal distension, which progressed to acute abdomen soon after. The hemoglobin concentration was 9.9 g/dL. Liver laboratory tests showed slight elevation of AST, ALT and gamma-GT. The alpha-fetoprotein level was not elevated. The radiological images showed a hemorrhagic mass with some bizarre features in left hepatic lobe, immediately adjacent to the ligamentum teres and falciform ligament. The patient underwent a left hepatic lobectomy. The diagnosis of CCMT was based on histological and immunohistochemical staining. The postoperative course was uneventful. The patient received no adjuvant treatment and is currently, 34 months after surgery, alive and disease free. In this report we describe a peculiar and hitherto undescribed clinical presentation of this tumor and its further course. Moreover, we discuss previously undescribed diagnostic imaging. We recommend that all unusual carcinomas and mesenchymal tumors of the liver should be tested for HMB-45: when positive, there is a high likelihood of PEComa.
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22
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Choi CW, Kim TO, Kim KY, Lee SM, Kim GH, Kang DH, Song GA, Kim S, Kim DH. Perivascular epithelioid cell tumor (PEComa) of abdominal cavity from falciform ligament: a case report. J Korean Med Sci 2009; 24:346-349. [PMID: 19399284 PMCID: PMC2672142 DOI: 10.3346/jkms.2009.24.2.346] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/11/2007] [Accepted: 02/17/2008] [Indexed: 11/20/2022] Open
Abstract
We present a case of perivascular epithelioid cell tumors (PEComas) in the abdominal cavity at the falciform ligament. A 30-yr-old Korean man visited to hospital for the evaluation of a growing, palpable abdominal mass. He had felt the mass growing over 6 months. There was no family or personal history of tuberous sclerosis. The resected specimen showed a mass of 8.0x7.0x5.5 cm in size. Histological examination showed sheets of spindle-to-epithelioid cells with clear-to-eosinophilic cytoplasm. Immunohistochemically, tumor cells were positive for HMB-4 (gp100) and smooth muscle actin. They were also positive for the S-100, which is a marker of neurogenic and melanocytic tumors. Patient was treated with radical resection of tumor without any adjuvant therapy. He is well and on follow-up visits without tumor recurrence.
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Affiliation(s)
- Cheol Woong Choi
- Department of Internal Medicine, Pusan National University College of Medicine, Busan, Korea
| | - Tae Oh Kim
- Department of Radiology, Pusan National University College of Medicine, Busan, Korea
| | - Kyung Yeob Kim
- Department of Internal Medicine, Pusan National University College of Medicine, Busan, Korea
| | - Sun Mi Lee
- Department of Internal Medicine, Pusan National University College of Medicine, Busan, Korea
| | - Gwang Ha Kim
- Department of Internal Medicine, Pusan National University College of Medicine, Busan, Korea
| | - Dae Hwan Kang
- Department of Internal Medicine, Pusan National University College of Medicine, Busan, Korea
| | - Geun Am Song
- Department of Internal Medicine, Pusan National University College of Medicine, Busan, Korea
| | - Suk Kim
- Department of Radiology, Pusan National University College of Medicine, Busan, Korea
| | - Dae Hwan Kim
- Department of General Surgery, Pusan National University College of Medicine, Busan, Korea
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Lian DWQ, Chuah KL, Cheng MHW, Yap WM. Malignant perivascular epithelioid cell tumour of the fibula: a report and a short review of bone perivascular epithelioid cell tumour. J Clin Pathol 2008; 61:1127-9. [PMID: 18820101 DOI: 10.1136/jcp.2008.060137] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022]
Abstract
Perivascular epithelioid cell tumour (PEComa) is a term applied to a family of mesenchymal tumours composed of varying proportions of spindle and epithelioid cell components associated with HMB-45 expression. PEComa rarely arises in the soft tissue, visceral organs, skin and bone. This report details an instance when a purely epithelioid PEComa arose from the right fibula of a 52-year-old Chinese woman without features of tuberous sclerosis complex. The excision specimen disclosed an epithelioid tumour with a nested pattern associated with areas of nuclear pleomorphism, mitotic activity, necrosis and vascular invasion in addition to HMB-45 expression on immunohistochemistry. To the best of the authors’ knowledge, this represents the first case of a histologically malignant PEComa of the bone. A short review of primary bone PEComas and potential problems in diagnosis is presented.
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Affiliation(s)
- D W Q Lian
- Department of Pathology, Tan Tock Seng Hospital, Singapore
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25
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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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27
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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: 359] [Impact Index Per Article: 19.9] [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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28
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Armah HB, Parwani AV. Malignant perivascular epithelioid cell tumor (PEComa) of the uterus with late renal and pulmonary metastases: a case report with review of the literature. Diagn Pathol 2007; 2:45. [PMID: 18053181 PMCID: PMC2213634 DOI: 10.1186/1746-1596-2-45] [Citation(s) in RCA: 53] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/27/2007] [Accepted: 12/03/2007] [Indexed: 11/22/2022] Open
Abstract
Background Perivascular epithelioid cell tumor (PEComa), other than angiomyolipoma (AML), clear cell sugar tumor (CCST), and lymphangioleiomyomatosis (LAM), is a very rare mesenchymal tumor with an unpredictable natural history. The uterus is the most prevalent reported site of involvement of PEComa-not otherwise specified (PEComa-NOS). To the best of our knowledge, about 100 PEComa-NOS have been reported in the English Language medical literature, of which 38 were uterine PEComa-NOS. These reported cases of uterine PEComa-NOS have usually shown clinically benign behavior, but 13 tumors, three of them associated with tuberous sclerosis complex (TSC), exhibited local aggressive behavior and four of them showed distant metastases. Case presentation We report the case of a 59-year-old woman, who presented with renal and pulmonary lesions seven years after the initial diagnosis of uterine leiomyosarcoma. Left nephrectomy and right middle lobe wedge resection were performed. Histological and immunohistochemical analysis of the renal and pulmonary lesions, in addition to retrospective re-evaluation of the previous uterine tumor, led to the final diagnosis of malignant uterine PEComa with late renal and pulmonary metastases. All three lesions had the typical histological appearance of PEComa-NOS showing a biphasic growth pattern with continuous transition between spindle cells and epithelioid cells, often arranged around vascular spaces. Immunohistochemically, the tumor cells of both phenotypes in all three lesions stained for melanocytic (HMB-45 and Melan-A/MART-1) and myoid (desmin, smooth muscle actin, and muscle-specific actin/all muscle actin/HHF-35) markers. Conclusion The findings indicate that despite the small number of reported cases, PEComas-NOS should be considered tumors of uncertain malignant potential, and metastases to other organs might become evident even several years after the primary diagnosis.
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Affiliation(s)
- Henry B Armah
- Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
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29
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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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30
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Parfitt JR, Bella AJ, Izawa JI, Wehrli BM. Malignant neoplasm of perivascular epithelioid cells of the liver. Arch Pathol Lab Med 2006; 130:1219-22. [PMID: 16879028 DOI: 10.5858/2006-130-1219-mnopec] [Citation(s) in RCA: 87] [Impact Index Per Article: 4.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/04/2023]
Abstract
Neoplasms of perivascular epithelioid cells (PEComas) have in common the coexpression of muscle and melanocytic immunohistochemical markers. Although this group includes entities with distinct clinical features, such as angiomyolipoma, clear cell sugar tumor of the lung, and lymphangioleiomyomatosis, similar tumors have been documented in an increasing diversity of locations. The term PEComa is now generally used in reference to these lesions that are not angiomyolipomas, clear cell sugar tumors, or lymphangioleiomyomatoses. While most reported PEComas have behaved in a benign fashion, malignant PEComas have occasionally been documented. We present a case of hepatic PEComa with benign histologic features, which nonetheless presented with metastases to multiple sites nearly 9 years later. This case represents the second documented malignant PEComa of the liver, as well as the longest follow-up of a surviving patient with a malignant PEComa, emphasizing both the need for criteria that more accurately predict the behavior of PEComas and the necessity of long-term follow-up of patients with PEComas.
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Affiliation(s)
- Jeremy R Parfitt
- Departments of Pathology, London Health Sciences Centre and University of Western Ontario, London, Ontario, Canada.
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31
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Parfitt JR, Bella AJ, Wehrli BM, Izawa JI. Primary PEComa of the bladder treated with primary excision and adjuvant interferon-alpha immunotherapy: a case report. BMC Urol 2006; 6:20. [PMID: 16925812 PMCID: PMC1564030 DOI: 10.1186/1471-2490-6-20] [Citation(s) in RCA: 43] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/18/2006] [Accepted: 08/22/2006] [Indexed: 11/10/2022] Open
Abstract
Background Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms of uncertain malignant potential, which have in common the co-expression of muscle and melanocytic immunohistochemical markers. Case presentation A 48-year-old man presented with dysuria, passage of urinary sediment and lower abdominal discomfort. A three centimeter mass was identified by cystoscopy in the posterior midline of the bladder. Computerized tomography suggested an enterovesical fistula. The patient underwent laparotomy, partial cystectomy and partial small bowel resection. Pathological examination revealed PEComa of the bladder. The patient underwent adjuvant interferon-α immunotherapy. Subsequent follow-up procedures, including cystoscopy and imaging, have not revealed evidence of recurrence. The patient is clinically free of disease 48 months after surgery. Conclusion This case represents the second documented PEComa of bladder and demonstrates that adjuvant therapies, including anti-angiogenic and immunotherapy, may be considered for patients with locally advanced or metastatic genitourinary PEComa.
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Affiliation(s)
- Jeremy R Parfitt
- Department of Pathology, London Health Sciences Centre and University of Western Ontario, London, Canada
| | - Anthony J Bella
- Department of Surgery, Division of Urology, London Health Sciences Centre and University of Western Ontario, London, Canada
| | - Bret M Wehrli
- Department of Pathology, London Health Sciences Centre and University of Western Ontario, London, Canada
| | - Jonathan I Izawa
- Department of Surgery, Division of Urology, London Health Sciences Centre and University of Western Ontario, London, Canada
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Yamamoto H, Oda Y, Yao T, Oiwa T, Kobayashi C, Tamiya S, Kawaguchi KI, Hino O, Tsuneyoshi M. Malignant perivascular epithelioid cell tumor of the colon: report of a case with molecular analysis. Pathol Int 2006; 56:46-50. [PMID: 16398680 DOI: 10.1111/j.1440-1827.2006.01917.x] [Citation(s) in RCA: 38] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/08/2023]
Abstract
Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm, and malignant cases are extremely rare. A case of malignant PEComa arising in the colon is described herein. The patient was a 43-year-old Japanese woman without a history of tuberous sclerosis complex. The tumor occurred in the abdominal cavity attached to the serosal side of the descending colon. Histologically, the tumor consisted of sheets or closely packed nests of epithelioid cells with clear or eosinophilic cytoplasms. The tumor cells were positive for HMB-45 but negative for S-100 protein and cytokeratins by immunohistochemical staining. Ki-67 labeling index was 2.9%. Peritoneal dissemination of tumor occurred at 20 months and the patient died of tumor at 38 months after the initial operation. This was considered to be a case of malignant PEComa, based on the histological and clinical features. Tumor cells showed overexpression of cyclin D1 but lacked the loss of heterozygosity of the TSC1 and TSC2 genes. The result suggests that the overexpression of cyclin D1 may play an important role in the tumorigenesis of PEComa. Because PEComas can behave in an aggressive manner, careful follow up is warranted.
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Affiliation(s)
- Hidetaka Yamamoto
- Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Japan
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Abstract
PEComas (tumours showing perivascular epithelioid cell differentiation) are a family of related mesenchymal neoplasms that include angiomyolipoma, lymphangiomyomatosis, clear cell "sugar" tumour of the lung, and a group of rare, morphologically and immunophenotypically similar lesions arising at a variety of visceral and soft tissue sites. These tumours all share a distinctive cell type, the perivascular epithelioid cell or "PEC' (which has no known normal tissue counterpart). PEComas show a marked female predominance and are composed of nests and sheets of usually epithelioid but occasionally spindled cells with clear to granular eosinophilic cytoplasm and a focal association with blood vessel walls. PEComas appear to arise most commonly at visceral (especially gastrointestinal and uterine), retroperitoneal, and abdominopelvic sites, with a subset occurring in somatic soft tissue and skin. Nearly all PEComas show immunoreactivity for both melanocytic (HMB-45 and/or melan-A) and smooth muscle (actin and/or desmin) markers. A subset of PEComas behave in a malignant fashion. This review examines the members of the PEComa family, with an emphasis on lesions arising outside of the kidney, lung and liver, and discusses preliminary evidence for pathological features that might predict malignant behaviour.
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Affiliation(s)
- J L Hornick
- Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA
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34
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Vajtai I, Sahli R, Kappeler A, Christ ER, Seiler RW. Leiomyomatoid angiomatous neuroendocrine tumor (LANT) of the pituitary: a distinctive biphasic neoplasm with primitive secretory phenotype and smooth muscle-rich stroma. Acta Neuropathol 2006; 111:278-83. [PMID: 16520966 DOI: 10.1007/s00401-006-0051-2] [Citation(s) in RCA: 16] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/20/2005] [Accepted: 01/24/2006] [Indexed: 10/24/2022]
Abstract
We describe a hitherto undocumented variant of dimorphic pituitary neoplasm composed of an admixture of neurosecretory cells and profuse leiomyomatous stroma around intratumoral vessels. Radiologically perceived as a macroadenoma of 3.8 cm in diameter, this pituitary mass developed in an otherwise healthy 43-year-old female. At the term of a yearlong history of amenorrhea and progressive bitemporal visual loss, subtotal resection was performed via transsphenoidal microsurgery. Discounting mild hyperprolactinemia, there was no evidence of excess hormone production. Histologically, solid sheets, nests and cords of epithelial-looking, yet cytokeratin-negative cells were seen growing in a richly vascularized stroma of spindle cells. While strong immunoreactivity for NCAM, Synaptophysin and Chromogranin-A was detected in the former, the latter showed both morphological and immunophenotypic hallmarks of smooth muscle, being positive for vimentin, muscle actin and smooth muscle actin. Architectural patterns varied from monomorphous stroma-dominant zones through biphasic neuroendocrine-leiomyomatous areas, to pseudopapillary fronds along vascular cores. Only endothelia were labeled with CD34. Staining for S100 protein and GFAP, characteristics of sustentacular cells, as well as bcl-2 and c-kit was absent. Except for alpha-subunit, anterior pituitary hormones tested negative in tumor cells, as did a panel of peripheral endocrine markers, including serotonin, somatostatin, calcitonin, parathormone and vasoactive intestinal polypeptide. Mitotic activity was absent and the MIB-1 labeling index low (1-2%). While assignment of this lesion to any established neoplastic entity is not forthcoming, we propose it is being considered as a low-grade neuroendocrine tumor possibly related to null cell adenoma.
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Affiliation(s)
- Istvan Vajtai
- Institute of Pathology, University of Bern, Murtenstrasse 31, Postfach 62, 3010, Bern, Switzerland.
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35
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Folpe AL, Mentzel T, Lehr HA, Fisher C, Balzer BL, Weiss SW. Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. Am J Surg Pathol 2006; 29:1558-75. [PMID: 16327428 DOI: 10.1097/01.pas.0000173232.22117.37] [Citation(s) in RCA: 628] [Impact Index Per Article: 33.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/14/2022]
Abstract
PEComas, occasionally associated with the tuberous sclerosis complex, are defined by the presence of perivascular epithelioid cells that coexpress muscle and melanocytic markers. This family of tumors includes angiomyolipoma (AML), clear cell sugar tumor of the lung (CCST), lymphangioleiomyomatosis (LAM), and very rare tumors in other locations. Because non-AML/non-LAM PEComas are extremely rare and their natural history and prognostic features undefined, we present our experience with 26 PEComas of soft tissue and the gynecologic tract, the largest series to date. We also performed a detailed review of the literature, with special attention to features predictive of clinical behavior. All PEComas exclusive of AML and LAM were retrieved from our consultation files. Immunohistochemistry for pan-cytokeratin (CK), S-100 protein, smooth muscle actins (SMA), desmin, vimentin, HMB45, Melan-A, microphthalmia transcription factor (MiTF), TFE3, CD117, and CD34 was performed. Clinical follow-up information was obtained. Fisher's exact test was performed. The median patient age was 46 years (range, 15-97 years); there was a marked female predominance (22 females, 4 males). Sites of involvement included the omentum or mesentery (6 cases), uterus (4 cases), pelvic soft tissues (3 cases), abdominal wall (2 cases), uterine cervix (2 cases), and vagina, retroperitoneum, thigh, falciform ligament, scalp, broad ligament, forearm, shoulder, and neck (1 case each). The tumors ranged from 1.6 to 29 cm in size (median, 7.8 cm). Tumors were epithelioid (N = 9), spindled (N = 7), or mixed (N = 10). Multinucleated giant cells were present in 18 cases. High nuclear grade was noted in 10 cases, high cellularity in 7 cases, necrosis in 8 cases, and vascular invasion in 3 cases. Mitotic activity was 0 to 50 mitotic figures (MF)/50 high power fields (HPF) (median, 0 MF/50 HPF) with atypical MF in 6 cases. IHC results were: SMA (20/25), desmin (8/22), HMB45 (22/24), Melan-A (13/18), MITF (9/18), S-100 protein (8/24), CK (3/23), vimentin (12/14), TFE3 (5/17), c-kit (1/20), and CD34 (0/7). Clinical follow-up (24 of 26 patients, 92%; median, 30 months; range, 10-84 months) showed 3 local recurrences and 5 distant metastases. At last available clinical follow-up, 2 patients (8%) were dead of disease, 4 patients (17%) were alive with metastatic or unresectable local disease, and 18 patients (75%) were alive with no evidence of disease. No patient in our series had a history of tuberous sclerosis complex. Recurrence and/or metastasis was strongly associated tumor size > median size (8 cm), mitotic activity greater than 1/50 HPF, and necrosis. We conclude that PEComas of soft tissue and gynecologic origin may be classified as "benign," "of uncertain malignant potential," or "malignant." Small PEComas without any worrisome histologic features are most likely benign. PEComas with nuclear pleomorphism alone ("symplastic") and large PEComas without other worrisome features have uncertain malignant potential. PEComas with two or more worrisome histologic features should be considered malignant. Occasional PEComas express unusual markers, such as S-100 protein, desmin, and rarely CK. The role of TFE3 in PEComas should be further studied.
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MESH Headings
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Biomarkers, Tumor/analysis
- Disease-Free Survival
- Epithelioid Cells/pathology
- Female
- Follow-Up Studies
- Genital Neoplasms, Female/pathology
- Humans
- Immunohistochemistry
- Immunophenotyping
- Male
- Middle Aged
- Mitosis
- Neoplasm Metastasis
- Neoplasm Recurrence, Local
- Neoplasms, Connective and Soft Tissue/drug therapy
- Neoplasms, Connective and Soft Tissue/immunology
- Neoplasms, Connective and Soft Tissue/metabolism
- Neoplasms, Connective and Soft Tissue/pathology
- Neoplasms, Connective and Soft Tissue/radiotherapy
- Neoplasms, Connective and Soft Tissue/surgery
- Retrospective Studies
- Survival Analysis
- Time Factors
- Treatment Outcome
- Tumor Burden
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Affiliation(s)
- Andrew L Folpe
- Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA 30322, USA.
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Abstract
Uterine perivascular epithelioid cell tumor (PEComa) is very rare, and there have been only 27 reported cases. The differentiation of the tumor has been enigmatic, and the biologic behavior remains unclear. This study describes the clinical, histologic, and immunohistochemical features of four cases of uterine PEComa. The patients were 30, 32, 36, and 40 years old, and none of them had tuberous sclerosis complex. The size of the tumors ranged from 1 to 30 cm in diameter, and 3 of the 4 tumors were confined in the uterus. One tumor involved the left ovary and omentum. Microscopically, the tumors were characterized by an epithelioid arrangement of tumor cells, which had abundant clear to eosinophilic pale granular cytoplasm, and one tumor had moderately atypical nuclei. Coagulative necrosis was found in two cases. The mitotic figures ranged from 0 to 11 per 10 high power fields. Immunohistochemically, the tumors were positive for vimentin (4/4), HMB45 (4/4), h-caldesmon (4/4), alpha-smooth muscle actin (3/4), muscle actin (2/4), and desmin (3/4). They were uniformly negative for Melan A, CD10, and S-100 protein. Ultrastructural examinations were performed on one case and revealed no melanosomes, premelanosomes, or evidence of smooth muscle differentiation. One patient died of intestinal metastases 17 months after surgery. The other patients have been well with no evidence of disease 8, 12, and 36 months after surgery. Uterine PEComa should be regarded as tumors with an uncertain malignant potential until long-term outcome data for a larger number of patients become available.
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Affiliation(s)
- Masaharu Fukunaga
- Department of Pathology, Jikei University School of Medicine, Tokyo, Japan.
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Fadare O, Parkash V, Yilmaz Y, Mariappan MR, Ma L, Hileeto D, Qumsiyeh MB, Hui P. Perivascular epithelioid cell tumor (PEComa) of the uterine cervix associated with intraabdominal "PEComatosis": A clinicopathological study with comparative genomic hybridization analysis. World J Surg Oncol 2004; 2:35. [PMID: 15494070 PMCID: PMC527874 DOI: 10.1186/1477-7819-2-35] [Citation(s) in RCA: 81] [Impact Index Per Article: 3.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/10/2004] [Accepted: 10/19/2004] [Indexed: 12/30/2022] Open
Abstract
Background The World Health Organization recently recognized a family of neoplasms showing at least partial morphological or immunohistochemical evidence of a putative perivascular epithelioid cell (PEC) differentiation. These tumors include angiomyolipoma (AML), clear cell "sugar" tumors of the lung (CCST), lymphangioleiomyomatosis (LAM), clear cell myomelanocytic tumors of the falciform ligament and distinctive clear cell tumors at various other anatomic sites. Case presentation & methods A 41-year old gravida-1 para-1 with tuberous sclerosis presented with an incidentally identified 2.2 cm mass. The morphology and immunohistochemical profile was consistent with PEComa. Distinct aggregates of HMB-45 epithelioid cells were present in an occasionally distinctive perivascular distribution in the myometrium, small bowel lamina propria and ovarian hila. These distinctive aggregates, for which we propose the designation "PEComatosis" based on their intraabdominal distribution, did not display cytological atypia, mitotic activity or necrosis. CGH and DNA ploidy analysis showed a balanced chromosomal profile and diploid nuclei, respectively. There was no recurrence or metastases at 35 months' follow-up. Fifty-one previously reported cases of non-AML, LAM and CCST PEComas [perivascular epithelioid cell tumors- not otherwise specified (PEComa-NOS)] are reviewed. Conclusions The lesions may be a reflection of tumor multicentricity, in which each may be a potential nidus for the development of future more well-developed tumors. Alternatively, they may be a manifestation of a poorly understood "field effect", in which there is an increased propensity to develop tumors of this type throughout the abdomen. Finally, and least likely in our opinion, they may represent tumor spread from its primary site.
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Affiliation(s)
- Oluwole Fadare
- Department of Pathology, Yale University School of Medicine, New Haven, CT, USA
- Department of Laboratory Medicine Yale University School of Medicine, New Haven, CT, USA
| | - Vinita Parkash
- Department of Pathology, Yale University School of Medicine, New Haven, CT, USA
- Department of Pathology, Hospital of St Raphael, New Haven, CT, USA
| | - Yesim Yilmaz
- Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA, USA
| | | | - Linglei Ma
- Department of Pathology, New York University, New York, NY, USA
| | - Denise Hileeto
- Department of Pathology, Yale University School of Medicine, New Haven, CT, USA
| | - Mazin B Qumsiyeh
- Department of Genetics, Yale University School of Medicine, New Haven, CT, USA
| | - Pei Hui
- Department of Pathology, Yale University School of Medicine, New Haven, CT, USA
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