PEComa

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PEComa
Renal angiomyolipoma (2).jpg
Histopathologic image of renal angiomyolipoma. Nephrectomy specimen. H&E stain.
MeSH D054973

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Zahir Ali Shaikh, MD[2]

Overview

The World Health Organization defines perivascular epithelioid cell tumors (PEComas) as mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells (PECs). PEComas were first discovered by Pea and Colleagues in 1991. Zamboni et al in 1996 suggested the name PEComa for these neoplasms. They are a group of tumors that includes: angiomyolipoma (AML), clear cell sugar tumor (CCST), lymphangioleiomyomatosis (LAM), and others. PEC has no normal counterpart, it expresses myogenic and melanocytes markers such as HMB45 and actin. Genetically they are linked to the tuberous sclerosis genes 1 and 2. There are no established risk factors for the PEComas but the risk increases in patients with tuberous sclerosis. The symptoms depend upon the area involved and can include palpable abdominal mass/abnormal vaginal bleeding (uterus), flank pain (kidney), or dull abdominal pain in the right upper quadrant (liver). It may occur in any age group, but median age is 54 years and is more common in females. Clinically, most PEComas are benign. CT scan and presence of PECs on histology are helpful in diagnosis. Surgery is the mainstay of treatment; however, other chemotherapeutic and immunotherapeutic drugs are under investigation.

Historical Perspective

  • In 1991, Pea et al first discovered PEComas, where they noticed these unusual cells in both angiomyolipoma (AML) and clear cell sugar tumor of lung (CCST).[1]
  • In 1992, Bonetti et al proposed a cellular link between AML, CCST, and lymphangioleiomyomatosis (LAM). They also associated these conditions with tuberous sclerosis complex (TSC) and advanced the concept of a family of neoplasms composed of these distinctive cells which were immunoreactive with melanocytes markers and exhibit and epitheloid appearance, a clear acidophilic cytoplasm and a perivascular distribution.[2]
  • In 1996, Zamboni et al reported the first case of pancreatic CCST and suggested the name PEComa for these neoplasms composed of a pure proliferation of perivascular epithlioid cells (PECs).[3]

Classification

  • The World Health Organization defines perivascular epithelioid cell tumors (PEComas) as "mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells (PECs)".[4]
  • There is no established system for the classification of PEComas because of the rarity of disease, but the PEComas are a group of tumors that includes following:[5]
    • Angiomyolipoma (AML)
    • Clear cell sugar tumor Of lung (CCST)
    • Lymphangileiomyomatosis (LAM)
    • PEComas Not Otherwise Specified (PEComas-NOS); which includes:
  • Folpe and Colleagues suggested criteria for malignancy based of following three criteria:[6]
    • Size greater than 8.0 cm
    • mitotic count of 1/50 high power field (HPF)
    • Necrosis
Malignant potential No. of criteria present
Benign None
Uncertain malignant potential One
Malignant ≥ Two

Pathophysiology

  • Perivascular epithlioid cell (PEC) is a cell type constantly present in a group of tumors called PEComas. It has no normal counterpart.
  • PEC expresses myogenic and melanocytic markers such as HMB45 and actin.[7]

Microscopic Pathology

Genetics

Causes

Differentiating PEComa from other Diseases

Epidemiology and Demographics

  • Patients of all age groups may develop PEComas, but the mean age at diagnosis is 54 years.[9]
  • Women are more commonly affected by PEComas than men.

Risk Factors

  • There are no established risk factors for PEComas, but the risk increases in patients with tuberous sclerosis as the PECs are associated with TSC1 and TSC2 genes.

Screening

  • There is insufficient evidence to recommend routine screening for PEComas.

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

  • There are no established criteria for the diagnosis of PEComas.

History and Symptoms

Physical Examination

Laboratory findings

Immunohistochemical markers

Electrocardiogram

  • There are no ECG findings associated with PEComas.

X-ray

  • There are no x-ray findings associated with PEComas.

Echocardiography or Ultrasound

CT scan

MRI

  • There are no MRI findings associated with PEComas.

Other Imaging Findings

  • There are no other imaging findings associated with PEComas.

Other Diagnostic Studies

  • There are no other diagnostic studies associated with PEComas.

Treatment

Medical Therapy

Surgery

  • Surgery is the mainstay of treatment for PEComas, as well as for local recurrences and metastasis, with the aim of obtaining clear resection margins.[18]

Primary Prevention

Secondary Prevention

References

  1. Pea M, Bonetti F, Zamboni G, Martignoni G, Fiore-Donati L, Doglioni C (1991). "Clear cell tumor and angiomyolipoma.". Am J Surg Pathol. 15 (2): 199–202. PMID 2025321. 
  2. Bonetti F, Pea M, Martignoni G, Zamboni G (1992). "PEC and sugar.". Am J Surg Pathol. 16 (3): 307–8. PMID https://www.ncbi.nlm.nih.gov/pubmed/1599021 . 
  3. Zamboni G, Pea M, Martignoni G, Zancanaro C, Faccioli G, Gilioli E; et al. (1996). "Clear cell "sugar" tumor of the pancreas. A novel member of the family of lesions characterized by the presence of perivascular epithelioid cells.". Am J Surg Pathol. 20 (6): 722–30. PMID https://www.ncbi.nlm.nih.gov/pubmed/8651352 . 
  4. Fletcher, Christopher (2002). Pathology and genetics of tumours of soft tissue and bone. Lyon: IARC Press. ISBN 9789283224136. 
  5. Fletcher, Christopher (2013). WHO classification of tumours of soft tissue and bone. Lyon: IARC Press. ISBN 978-9283224341. 
  6. 6.0 6.1 Folpe AL, Mentzel T, Lehr HA, Fisher C, Balzer BL, Weiss SW (2005). "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. 29 (12): 1558–75. PMID https://www.ncbi.nlm.nih.gov/pubmed/16327428 . 
  7. 7.0 7.1 7.2 7.3 7.4 Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F (2008). "PEComas: the past, the present and the future.". Virchows Arch. 452 (2): 119–32. PMC 2234444Freely accessible. PMID https://www.ncbi.nlm.nih.gov/pubmed/18080139 . doi:10.1007/s00428-007-0509-1. 
  8. D. A. Weeks, R. L. Malott, M. Arnesen, C. Zuppan, D. Aitken & G. Mierau (1991). "Hepatic angiomyolipoma with striated granules and positivity with melanoma--specific antibody (HMB-45): a report of two cases". Ultrastructural pathology. 15 (4-5): 563–571. PMID 1755113. 
  9. Vang R, Kempson RL (2002). "Perivascular epithelioid cell tumor ('PEComa') of the uterus: a subset of HMB-45-positive epithelioid mesenchymal neoplasms with an uncertain relationship to pure smooth muscle tumors.". Am J Surg Pathol. 26 (1): 1–13. PMID https://www.ncbi.nlm.nih.gov/pubmed/11756764 . 
  10. Fletcher, Christopher (2013). WHO classification of tumours of soft tissue and bone. Lyon: IARC Press. ISBN 978-9283224341. 
  11. Bonetti, Franco; Martignoni, Guido; Colato, Chiara; Manfrin, Erminia; Gambacorta, Marcello; Faleri, Maurizio; Bacchi, Carlos; Sin, Vai-Chong; Wong, Nim-Lai; Coady, Mark; Chan, John Kwok-cheung (2001). "Abdominopelvic Sarcoma of Perivascular Epithelioid Cells. Report of Four Cases in Young Women, One with Tuberous Sclerosis". Modern Pathology. 14 (6): 563–568. ISSN 0893-3952. doi:10.1038/modpathol.3880351. 
  12. 12.0 12.1 Theofanakis C, Thomakos N, Sotiropoulou M, Rodolakis A (2016). "Perivascular epithelioid cell tumor of the uterus: Report of two cases and mini-review of the literature.". Int J Surg Case Rep. 28: 85–87. PMC 5043388Freely accessible. PMID https://www.ncbi.nlm.nih.gov/pubmed/27689526 . doi:10.1016/j.ijscr.2016.09.017. 
  13. 13.0 13.1 D'Andrea D, Hanspeter E, D'Elia C, Martini T, Pycha A (2016). "Malignant Perivascular Epithelioid Cell Neoplasm (PEComa) of the Pelvis: A Case Report.". Urol Case Rep. 6: 36–8. PMC 4855909Freely accessible. PMID https://www.ncbi.nlm.nih.gov/pubmed/27169023 . doi:10.1016/j.eucr.2016.02.004. 
  14. 14.0 14.1 Cheung TT, Trendell-Smith N, Poon RT (2013). "Primary perivascular epithelioid cell tumour (PEComa) of the liver.". BMJ Case Rep. 2013. PMC 3736252Freely accessible. PMID https://www.ncbi.nlm.nih.gov/pubmed/23845671 . doi:10.1136/bcr-2013-008706. 
  15. Rigby, Heather; Yu, Weiming; Schmidt, Matthias H.; Fernandez, Conrad V. (2005). "Lack of response of a metastatic renal perivascular epithelial cell tumor (PEComa) to successive courses of DTIC based-therapy and imatinib mesylate". Pediatric Blood & Cancer. 45 (2): 202–206. ISSN 1545-5009. doi:10.1002/pbc.20305. 
  16. Parfitt, Jeremy R; Bella, Anthony J; Wehrli, Bret M; Izawa, Jonathan I (2006). "Primary PEComa of the bladder treated with primary excision and adjuvant interferon-alpha immunotherapy: a case report". BMC Urology. 6 (1). ISSN 1471-2490. doi:10.1186/1471-2490-6-20. 
  17. In-sang Jeon & Sung Moon Lee (2005). "Multimodal treatment using surgery, radiotherapy, and chemotherapy in a patient with a perivascular epithelioid cell tumor of the uterus". Journal of pediatric hematology/oncology. 27 (12): 681–684. PMID 16344678. 
  18. Dimmler, A (2003). "Late pulmonary metastasis in uterine PEComa". Journal of Clinical Pathology. 56 (8): 627–628. ISSN 0021-9746. doi:10.1136/jcp.56.8.627. 



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