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__NOTOC__
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{{Infobox_Disease |
 
  Name          = {{PAGENAME}} |
  Image          = Renal angiomyolipoma (2).jpg |
  Caption        = Histopathologic image of [[kidney|renal]] [[angiomyolipoma]]. [[Nephrectomy]] specimen. [[H&E stain]]. |
  DiseasesDB    = |
  ICD10          = |
  ICD9          = |
  ICDO          = |
  OMIM          = |
  MedlinePlus    = |
  eMedicineSubj  = |
  eMedicineTopic = |
  MeshID        = D054973 |
}}
{{SI}}
{{SI}}
{{CMG}} {{AE}} {{ZAS}}
{{CMG}} {{shyam}} {{AE}} {{ZAS}}
 
* {{SK}}[[PEComa|'''Perivascular epithelioid cell tumor''']]
{{SK}}Perivascular epithelioid cell tumor  
 


==Overview==
==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 can occur in any age group, but median age is 54 years and is more common in females. PEComas must be differentiated from Epithelioid Smooth Muscle cell tumors(epithelioid leiomyosarcoma and epithelioid leiomyoma), Malignant Melanoma, Clear cell sarcoma of tendon and aponeroses (melanoma of soft parts), Alveolar soft part sarcoma, Endometrial stromal sarcoma with clear cell features, Carcinoma (especially renal cell and adrenocortical carcinoma) and Paraganglioma. There is no evidence to recommend the routine screening. Clinically most PEComas are benign. CT scan and presence of PECs on histology are helpful in diagnosis. Surgery is the mainstay of treatment, other chemotherapeutic and immunotherapeutic drugs are under trial.
The [[World Health Organization]] defines perivascular epithelioid cell tumors (PEComas) as [[mesenchymal]] [[tumors]] composed of [[histologically]] and [[Immunohistochemistry|immunohistochemically]] distinctive [[Perivascular cell|perivascular]] [[Epithelioid cell|epithelioid cells]] (PECs). PEComas were first discovered by Pea and Colleagues in 1991. Zamboni et al in 1996 suggested the name PEComa for these [[Neoplasm|neoplasms]]. They are a group of [[Tumor|tumors]] that includes: [[angiomyolipoma]] (AML), [[lymphangioleiomyomatosis]] (LAM), and others. PEC has no normal counterpart, it expresses [[myogenic]] and [[melanocytes]] markers such as HMB45 and [[actin]]. [[Genetics|Genetically]] they are linked to the [[tuberous sclerosis]] [[Gene|genes]] 1 and 2. There are no established [[Risk factor|risk factors]] for the PEComas but the risk increases in [[Patient|patients]] with [[tuberous sclerosis]]. The [[Symptom|symptoms]] depend upon the area involved and can include [[Abdominal mass|palpable abdominal mass]]/abnormal [[vaginal bleeding]] ([[uterus]]), [[flank pain]] ([[kidney]]), or [[Abdominal pain|dull abdominal pain]] in the [[Right upper quadrant pain|right upper quadrant]] ([[liver]]). It may occur in any age group, but median [[age]] is 54 years and is more common in [[Female|females]]. Clinically, most PEComas are [[benign]]. [[Computed tomography|CT scan]] and presence of [[Perivascular cell|PECs]] on [[histology]] are helpful in [[diagnosis]]. [[Surgery]] is the mainstay of treatment; however, other [[Chemotherapy|chemotherapeutic]] and [[Immunotherapy|immunotherapeutic]] [[:Category:Drugs|drugs]] are under investigation.


==Historical Perspective==
==Historical Perspective==
* PEComas was first discovered by Pea and Colleagues in 1991, where they first noticed this unusual cell in both [[Angiomyolipoma]] (AML) and Clear Cell Sugar Tumor of [[Lung]] (CCST).<ref name="pmid2025321">{{cite journal| author=Pea M, Bonetti F, Zamboni G, Martignoni G, Fiore-Donati L, Doglioni C| title=Clear cell tumor and angiomyolipoma. | journal=Am J Surg Pathol | year= 1991 | volume= 15 | issue= 2 | pages= 199-202 | pmid=2025321 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2025321  }} </ref>
* In 1991, Pea et al first discovered PEComas, where they noticed these unusual [[Cell (biology)|cells]] in both [[angiomyolipoma]] (AML) and [[clear cell]] sugar [[tumor]] of [[lung]] (CCST).<ref name="pmid2025321">{{cite journal| author=Pea M, Bonetti F, Zamboni G, Martignoni G, Fiore-Donati L, Doglioni C| title=Clear cell tumor and angiomyolipoma. | journal=Am J Surg Pathol | year= 1991 | volume= 15 | issue= 2 | pages= 199-202 | pmid=2025321 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2025321  }} </ref>
* In 1992, Bonetti and Colleagues proposed a cellular link between AML, CCST and [[lymphangioleiomyomatosis]] (LAM), their association 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.<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/1599021">{{cite journal| author=Bonetti F, Pea M, Martignoni G, Zamboni G| title=PEC and sugar. | journal=Am J Surg Pathol | year= 1992 | volume= 16 | issue= 3 | pages= 307-8 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/1599021 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1599021  }} </ref>
* In 1992, Bonetti et al proposed a cellular link between AML, clear cell sugar tumor (CCST), and [[lymphangioleiomyomatosis]] (LAM). They also associated these conditions with [[Tuberous sclerosis|tuberous sclerosis complex]] (TSC) and advanced the concept of a family of [[neoplasms]] composed of these distinctive [[Cell (biology)|cells]] which were immunoreactive with [[melanocytes]] markers and exhibit and epitheloid appearance, a clear [[Acidophile|acidophilic]] [[cytoplasm]] and a [[Perivascular cell|perivascular]] distribution.<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/1599021">{{cite journal| author=Bonetti F, Pea M, Martignoni G, Zamboni G| title=PEC and sugar. | journal=Am J Surg Pathol | year= 1992 | volume= 16 | issue= 3 | pages= 307-8 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/1599021 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1599021  }} </ref>
* 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 Epirhloid Cells (PECs).<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/8651352">{{cite journal| author=Zamboni G, Pea M, Martignoni G, Zancanaro C, Faccioli G, Gilioli E et al.| title=Clear cell "sugar" tumor of the pancreas. A novel member of the family of lesions characterized by the presence of perivascular epithelioid cells. | journal=Am J Surg Pathol | year= 1996 | volume= 20 | issue= 6 | pages= 722-30 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/8651352 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8651352  }} </ref>
* In 1996, Zamboni et al reported the first case of [[pancreatic]] CCST and suggested the name PEComa for these [[Neoplasm|neoplasms]] composed of a pure proliferation of [[Perivascular cell|perivascular]] epithlioid [[Cell (biology)|cells]] (PECs).<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/8651352">{{cite journal| author=Zamboni G, Pea M, Martignoni G, Zancanaro C, Faccioli G, Gilioli E et al.| title=Clear cell "sugar" tumor of the pancreas. A novel member of the family of lesions characterized by the presence of perivascular epithelioid cells. | journal=Am J Surg Pathol | year= 1996 | volume= 20 | issue= 6 | pages= 722-30 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/8651352 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8651352  }} </ref>


==Classification==
==Classification==
* The World Health Organization defines Perivascular Epithelioid Cell Tumors (PEComas) as mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells (PECs).<ref>{{cite book | last = Fletcher | first = Christopher | title = Pathology and genetics of tumours of soft tissue and bone | publisher = IARC Press | location = Lyon | year = 2002 | isbn = 9789283224136 }}</ref>
* The [[World Health Organization]] defines [[Perivascular cell|perivascular]] epithelioid [[Cell (biology)|cell]] [[Tumor|tumors]] (PEComas) as "[[Mesenchyme|mesenchymal]] [[Tumor|tumors]] composed of [[Histology|histologically]] and [[Immunohistochemistry|immunohistochemically]] distinctive [[Perivascular cell|perivascular]] epithelioid [[Cell (biology)|cells]] (PECs)".<ref>{{cite book | last = Fletcher | first = Christopher | title = Pathology and genetics of tumours of soft tissue and bone | publisher = IARC Press | location = Lyon | year = 2002 | isbn = 9789283224136 }}</ref>
* 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:<ref>{{cite book | last = Fletcher | first = Christopher | title = WHO classification of tumours of soft tissue and bone | publisher = IARC Press | location = Lyon | year = 2013 | isbn = 978-9283224341 }} </ref>
* 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:<ref>{{cite book | last = Fletcher | first = Christopher | title = WHO classification of tumours of soft tissue and bone | publisher = IARC Press | location = Lyon | year = 2013 | isbn = 978-9283224341 }} </ref>
 
**[[Angiomyolipoma|Angiomyolipoma (AML)]]
**[[Angiomyolipoma]] (AML)
**[[Clear cell]] sugar [[tumor]] of [[lung]] (CCST)
**Clear Cell Sugar Tumor Of Lung (CCST)
**[[Lymphangiomyomatosis|Lymphangioleiomyomatosis (LAM)]]
**[[Lymphangileiomyomatosis]] (LAM)
**PEComas Not Otherwise Specified (PEComas-NOS); which includes:
**PEComas Not Otherwise Specified (PEComas-NOS); which includes Clear Cell Myomelanocytic Tumor of falciform ligament/ligamentum teres, Abdominopelvic [[Sarcoma]] of perivascular epithelioid cells, primary extrapulmonary clear [[cell]] sugar tumor.
***[[Clear cell]] myomelanocytic [[tumor]] of [[falciform ligament]]/[[ligamentum teres]]
***Abdominopelvic [[sarcoma]] of [[Perivascular cell|perivascular]] epithelioid [[Cell (biology)|cells]]
***Primary extrapulmonary clear [[cell]] sugar [[tumor]]
*Folpe and Colleagues suggested criteria for [[Cancer|malignancy]] based of following three criteria:<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/16327428">{{cite journal| author=Folpe AL, Mentzel T, Lehr HA, Fisher C, Balzer BL, Weiss SW| title=Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. | journal=Am J Surg Pathol | year= 2005 | volume= 29 | issue= 12 | pages= 1558-75 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/16327428 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16327428  }} </ref>
**Size greater than 8.0 cm
**[[Mitosis|Mitotic count]] of 1/50 high power field (HPF)
**[[Necrosis]]
{| class="wikitable"
!style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF| Malignant potential}}
!style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF| No. of criteria present}}
|-
|Benign
|None
|-
|Uncertain malignant potential
|One
|-
|Malignant
|≥ Two
|}


==Pathophysiology==
==Pathophysiology==
Perivascular Epithlioid Cell (PEC) is a cell type constantly present in a group of tumors called PEComas. It has no normal counterpart.
* [[Perivascular cell|Perivascular]] epithlioid [[Cell (biology)|cell]] (PEC) is a cell type constantly present in a group of [[tumors]] called PEComas. It has no normal counterpart.
 
* PEC expresses [[myogenic]] and [[Melanocyte|melanocytic]] markers such as HMB45 and [[actin]].<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/18080139">{{cite journal| author=Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F| title=PEComas: the past, the present and the future. | journal=Virchows Arch | year= 2008 | volume= 452 | issue= 2 | pages= 119-32 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/18080139 | doi=10.1007/s00428-007-0509-1 | pmc=2234444 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18080139  }} </ref>
PEC expresses myogenic and melanocytic markers such as HMB45 and Actin.<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/18080139">{{cite journal| author=Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F| title=PEComas: the past, the present and the future. | journal=Virchows Arch | year= 2008 | volume= 452 | issue= 2 | pages= 119-32 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/18080139 | doi=10.1007/s00428-007-0509-1 | pmc=2234444 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18080139  }} </ref>


===Microscopic Pathology===
===Microscopic Pathology===
Perivascular Epithlioid Cells (PECs) are perivascular [[epithelioid]] cells with a clear/granular [[cytoplasm]] and round, oval, centrally located nucleus without prominent [[nucleoli]]. They have mild to any atypia.<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/18080139">{{cite journal| author=Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F| title=PEComas: the past, the present and the future. | journal=Virchows Arch | year= 2008 | volume= 452 | issue= 2 | pages= 119-32 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/18080139 | doi=10.1007/s00428-007-0509-1 | pmc=2234444 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18080139  }} </ref>
* [[Perivascular cell|Perivascular]] epithlioid [[Cell (biology)|cells]] (PECs) are [[Perivascular cell|perivascular]] [[epithelioid]] [[Cell (biology)|cells]] with a clear/granular [[cytoplasm]] and round, oval, centrally located [[Cell nucleus|nucleus]] without prominent [[nucleoli]]. They have mild to any [[atypia]].<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/18080139">{{cite journal| author=Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F| title=PEComas: the past, the present and the future. | journal=Virchows Arch | year= 2008 | volume= 452 | issue= 2 | pages= 119-32 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/18080139 | doi=10.1007/s00428-007-0509-1 | pmc=2234444 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18080139  }} </ref>
 
* On ultrastructural analysis, PEC contains [[microfilament]] bundles with electron dense condensation, numerous [[Mitochondrion|mitochondria]] and [[membrane]] bound [[Dense granule|dense granules]].<ref>{{Cite journal
On ultrastructural analysis PEC contains microfilament bundles with electron dense condensation, numerous mitochondria and membrane bound dense granules.<ref>{{Cite journal
  | author = [[D. A. Weeks]], [[R. L. Malott]], [[M. Arnesen]], [[C. Zuppan]], [[D. Aitken]] & [[G. Mierau]]
  | author = [[D. A. Weeks]], [[R. L. Malott]], [[M. Arnesen]], [[C. Zuppan]], [[D. Aitken]] & [[G. Mierau]]
  | title = Hepatic angiomyolipoma with striated granules and positivity with melanoma--specific antibody (HMB-45): a report of two cases
  | title = Hepatic angiomyolipoma with striated granules and positivity with melanoma--specific antibody (HMB-45): a report of two cases
Line 58: Line 60:


===Genetics===
===Genetics===
The precursor cell of PEComas is currently unknown. Genetically, PECs are linked to the [[tuberous sclerosis]] [[gene]]s [[TSC1]] and [[TSC2]].<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/18080139">{{cite journal| author=Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F| title=PEComas: the past, the present and the future. | journal=Virchows Arch | year= 2008 | volume= 452 | issue= 2 | pages= 119-32 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/18080139 | doi=10.1007/s00428-007-0509-1 | pmc=2234444 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18080139  }} </ref>
* The precursor cell of PEComas is currently unknown. [[Genetics|Genetically]], PECs are linked to the [[tuberous sclerosis]] [[gene]]s [[TSC1]] and [[TSC2]].<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/18080139">{{cite journal| author=Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F| title=PEComas: the past, the present and the future. | journal=Virchows Arch | year= 2008 | volume= 452 | issue= 2 | pages= 119-32 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/18080139 | doi=10.1007/s00428-007-0509-1 | pmc=2234444 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18080139  }} </ref>
 
==Causes==
==Causes==
PEComas are cause by genetic factors. Mutations in the [[tuberous sclerosis]] [[genes]] [[TSC1]] and [[TSC2]] has been associated.<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/18080139">{{cite journal| author=Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F| title=PEComas: the past, the present and the future. | journal=Virchows Arch | year= 2008 | volume= 452 | issue= 2 | pages= 119-32 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/18080139 | doi=10.1007/s00428-007-0509-1 | pmc=2234444 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18080139  }} </ref>
* PEComas are cause by [[Genetics|genetic]] factors. [[Mutation|Mutations]] in the [[tuberous sclerosis]] [[genes]] [[TSC1]] and [[TSC2]] has been associated.<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/18080139">{{cite journal| author=Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F| title=PEComas: the past, the present and the future. | journal=Virchows Arch | year= 2008 | volume= 452 | issue= 2 | pages= 119-32 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/18080139 | doi=10.1007/s00428-007-0509-1 | pmc=2234444 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18080139  }} </ref>
 
 
 
==Differentiating PEComa from other Diseases==
==Differentiating PEComa from other Diseases==
* PEComas must be differentiated from:<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/16327428">{{cite journal| author=Folpe AL, Mentzel T, Lehr HA, Fisher C, Balzer BL, Weiss SW| title=Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. | journal=Am J Surg Pathol | year= 2005 | volume= 29 | issue= 12 | pages= 1558-75 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/16327428 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16327428  }} </ref>
* PEComas must be differentiated from:<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/16327428">{{cite journal| author=Folpe AL, Mentzel T, Lehr HA, Fisher C, Balzer BL, Weiss SW| title=Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. | journal=Am J Surg Pathol | year= 2005 | volume= 29 | issue= 12 | pages= 1558-75 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/16327428 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16327428  }} </ref>  
 
** [[Epithelioid]] [[smooth muscle]] [[Cell (biology)|cell]] [[Tumor|tumors]]([[epithelioid]] [[leiomyosarcoma]] and [[epithelioid]] [[leiomyoma]])
** Epithelioid [[Smooth Muscle]] cell tumors(epithelioid leiomyosarcoma and epithelioid leiomyoma)
** [[Malignant Melanoma]]
** [[Malignant Melanoma]]
** Clear cell [[sarcoma]] of tendon and [[aponeroses]](melanoma of soft parts)
** [[Clear cell]] [[sarcoma]] of [[tendon]] and [[aponeurosis]]([[melanoma]] of soft parts)
** Alveolar soft part sarcoma
** [[Alveolus|Alveolar]] soft part [[sarcoma]]
** Endometrial stromal sarcoma with clear cell features
** [[endometrial]] [[stromal]] [[sarcoma]] with [[clear cell]] features
** [[Carcinoma]] (especially [[Renal cell carcinoma|renal cell]] and adrenocortical carcinoma)
** [[Carcinoma]] (especially [[Renal cell carcinoma|renal cell]] and [[adrenocortical carcinoma]])
** [[Paraganglioma]]
** [[Paraganglioma]]
** Any other tumor with focal or prominent clear [[cell]] change
** Any other [[tumor]] with focal or prominent clear [[cell]] change


==Epidemiology and Demographics==
==Epidemiology and Demographics==
Patients of all age groups may develop PEComas, but the mean age at diagnosis is 54 years.<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/11756764">{{cite journal| author=Vang R, Kempson RL| title=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. | journal=Am J Surg Pathol | year= 2002 | volume= 26 | issue= 1 | pages= 1-13 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/11756764 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11756764  }} </ref>
* Patients of all age groups may develop PEComas, but the mean age at [[diagnosis]] is 54 years.<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/11756764">{{cite journal| author=Vang R, Kempson RL| title=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. | journal=Am J Surg Pathol | year= 2002 | volume= 26 | issue= 1 | pages= 1-13 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/11756764 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11756764  }} </ref>
 
* Women are more commonly affected by PEComas than men.
Women are more commonly affected by PEComas than men.


==Risk Factors==
==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]].
* There are no established [[Risk factor|risk factors]] for PEComas, but the risk increases in patients with [[tuberous sclerosis]] as the PECs are associated with [[TSC1]] and [[TSC2]] [[genes]].


==Screening==
==Screening==
There is insufficient evidence to recommend routine screening for PEComas.
* There is insufficient evidence to recommend routine [[Screening (medicine)|screening]] for PEComas.


==Natural History, Complications, and Prognosis==
==Natural History, Complications, and Prognosis==
*Clinically most PEComas follow a benign course.<ref>{{cite book | last = Fletcher | first = Christopher | title = WHO classification of tumours of soft tissue and bone | publisher = IARC Press | location = Lyon | year = 2013 | isbn = 978-9283224341 }}</ref>
*Clinically, most PEComas follow a [[benign]] course.<ref>{{cite book | last = Fletcher | first = Christopher | title = WHO classification of tumours of soft tissue and bone | publisher = IARC Press | location = Lyon | year = 2013 | isbn = 978-9283224341 }}</ref>
 
*Malignant PEComas are also reported, many originating in the [[uterus]] and others arising in the [[prostate]], [[jejunum]], [[pelvis]], [[broad ligament]] and somatic [[soft tissue]].
*Malignant PEComas-NOS are also reported and seen in uterus. Other sites including jejunum, prostate, pelvis, skull base, somatic soft tissue and broad ligament.
*They can [[Metastasis|metastasize]] distally to [[liver]], [[lungs]], [[intestines]], [[bone]] and [[lymph nodes]]<ref name="BonettiMartignoni2001">{{cite journal|last1=Bonetti|first1=Franco|last2=Martignoni|first2=Guido|last3=Colato|first3=Chiara|last4=Manfrin|first4=Erminia|last5=Gambacorta|first5=Marcello|last6=Faleri|first6=Maurizio|last7=Bacchi|first7=Carlos|last8=Sin|first8=Vai-Chong|last9=Wong|first9=Nim-Lai|last10=Coady|first10=Mark|last11=Chan|first11=John Kwok-cheung|title=Abdominopelvic Sarcoma of Perivascular Epithelioid Cells. Report of Four Cases in Young Women, One with Tuberous Sclerosis|journal=Modern Pathology|volume=14|issue=6|year=2001|pages=563–568|issn=0893-3952|doi=10.1038/modpathol.3880351}}</ref>
*Folpe and Colleagues suggested criteria for malignancy based of following 03 factors:<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/16327428">{{cite journal| author=Folpe AL, Mentzel T, Lehr HA, Fisher C, Balzer BL, Weiss SW| title=Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. | journal=Am J Surg Pathol | year= 2005 | volume= 29 | issue= 12 | pages= 1558-75 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/16327428 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16327428  }} </ref>
**Size greater than 8.0 cm
**[[Mitotic]] count of 1/50 high power field (HPF)
**[[Necrosis]]
***They are categorized as [[Benign]], Uncertain [[malignant]] potential and Malignant on the presence of none, 1, or 2 or more of the above three criteria.


==Diagnosis==
==Diagnosis==


 
=== '''Diagnostic Study of Choice''' ===
===Diagnostic Study of Choice===
* There are no established criteria for the [[diagnosis]] of PEComas.
There are no established criteria for the diagnosis of PEComas.


===History and Symptoms===
===History and Symptoms===
The symptoms of PEComa depend on the area involved:
* The symptoms of PEComa depend on the area involved:
* Palpable abdominal masses/abnormal [[vaginal]] [[bleeding]] (uterus).<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/27689526">{{cite journal| author=Theofanakis C, Thomakos N, Sotiropoulou M, Rodolakis A| title=Perivascular epithelioid cell tumor of the uterus: Report of two cases and mini-review of the literature. | journal=Int J Surg Case Rep | year= 2016 | volume= 28 | issue=  | pages= 85-87 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/27689526 | doi=10.1016/j.ijscr.2016.09.017 | pmc=5043388 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27689526  }} </ref>
** Palpable [[Abdomen|abdominal]] masses or abnormal [[vaginal]] [[bleeding]] ([[uterus]])<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/27689526">{{cite journal| author=Theofanakis C, Thomakos N, Sotiropoulou M, Rodolakis A| title=Perivascular epithelioid cell tumor of the uterus: Report of two cases and mini-review of the literature. | journal=Int J Surg Case Rep | year= 2016 | volume= 28 | issue=  | pages= 85-87 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/27689526 | doi=10.1016/j.ijscr.2016.09.017 | pmc=5043388 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27689526  }} </ref>
* Flank pain ([[kidneys]]).<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/27169023">{{cite journal| author=D'Andrea D, Hanspeter E, D'Elia C, Martini T, Pycha A| title=Malignant Perivascular Epithelioid Cell Neoplasm (PEComa) of the Pelvis: A Case Report. | journal=Urol Case Rep | year= 2016 | volume= 6 | issue=  | pages= 36-8 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/27169023 | doi=10.1016/j.eucr.2016.02.004 | pmc=4855909 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27169023  }} </ref>
** [[Flank pain]] ([[kidneys]])<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/27169023">{{cite journal| author=D'Andrea D, Hanspeter E, D'Elia C, Martini T, Pycha A| title=Malignant Perivascular Epithelioid Cell Neoplasm (PEComa) of the Pelvis: A Case Report. | journal=Urol Case Rep | year= 2016 | volume= 6 | issue=  | pages= 36-8 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/27169023 | doi=10.1016/j.eucr.2016.02.004 | pmc=4855909 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27169023  }} </ref>
* Dull abdominal pain in right upper quadrant ([[liver]]).<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/23845671">{{cite journal| author=Cheung TT, Trendell-Smith N, Poon RT| title=Primary perivascular epithelioid cell tumour (PEComa) of the liver. | journal=BMJ Case Rep | year= 2013 | volume= 2013 | issue=  | pages=  | pmid=https://www.ncbi.nlm.nih.gov/pubmed/23845671 | doi=10.1136/bcr-2013-008706 | pmc=3736252 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23845671  }} </ref>
** Dull [[Abdomen|abdominal]] [[pain]] in [[RUQ|right upper quadrant]] ([[liver]])<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/23845671">{{cite journal| author=Cheung TT, Trendell-Smith N, Poon RT| title=Primary perivascular epithelioid cell tumour (PEComa) of the liver. | journal=BMJ Case Rep | year= 2013 | volume= 2013 | issue=  | pages=  | pmid=https://www.ncbi.nlm.nih.gov/pubmed/23845671 | doi=10.1136/bcr-2013-008706 | pmc=3736252 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23845671  }} </ref>


===Physical Examination===
===Physical Examination===
* There are no any specific physical examination findings related to the PEComas.
* There are no any specific [[physical examination]] findings related to the PEComas.


=== Laboratory findings ===
=== Laboratory findings ===


====Immunohistochemical markers====
====Immunohistochemical markers====
PECs typically stain for melanocytic markers ([[HMB-45]], HMSA-1, Melan A (Mart 1), microophthalmia transcription factor (Mitf)), myogenic markers ([[actin]])and less commonly [[desmin]]. Immunoreactivity for [[vimentin]] is unclear.<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/18080139">{{cite journal| author=Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F| title=PEComas: the past, the present and the future. | journal=Virchows Arch | year= 2008 | volume= 452 | issue= 2 | pages= 119-32 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/18080139 | doi=10.1007/s00428-007-0509-1 | pmc=2234444 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18080139  }} </ref>
* PECs typically stain for [[Melanocyte|melanocytic]] markers ([[HMB-45]], HMSA-1, Melan A (Mart 1), microophthalmia [[transcription factor]] (Mitf), [[myogenic]] markers ([[actin]]), and less commonly [[desmin]].
* Immunoreactivity for [[vimentin]] is unclear.<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/18080139">{{cite journal| author=Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F| title=PEComas: the past, the present and the future. | journal=Virchows Arch | year= 2008 | volume= 452 | issue= 2 | pages= 119-32 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/18080139 | doi=10.1007/s00428-007-0509-1 | pmc=2234444 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18080139  }} </ref>


===Electrocardiogram===
===Electrocardiogram===
There are no ECG findings associated with PEComas.
* There are no [[The electrocardiogram|ECG]] findings associated with PEComas.


===X-ray===
===X-ray===
There are no [[x-ray]] findings associated with PEDComas.
* There are no [[x-ray]] findings associated with PEComas.


===Echocardiography or Ultrasound===
===Echocardiography or Ultrasound===
There are no echocardiography/ultrasound findings associated with PEComas.
* There are no [[echocardiography]]/[[ultrasound]] findings associated with PEComas.


===CT scan===
===CT scan===
[[CT scan]] may be helpful in the diagnosis of PEComas. Findings on CT scan suggestive of PEComas include:   
* [[CT scan]] may be helpful in the [[diagnosis]] of PEComas. Findings on [[Computed tomography|CT scan]] suggestive of PEComas include:   
* [[Hypodense]] (15-50 hours field units) partially solid and partially cystic [[tumor]] with moderate contrast uptake (in kidney).<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/27169023">{{cite journal| author=D'Andrea D, Hanspeter E, D'Elia C, Martini T, Pycha A| title=Malignant Perivascular Epithelioid Cell Neoplasm (PEComa) of the Pelvis: A Case Report. | journal=Urol Case Rep | year= 2016 | volume= 6 | issue=  | pages= 36-8 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/27169023 | doi=10.1016/j.eucr.2016.02.004 | pmc=4855909 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27169023  }} </ref>
 
* Hypervascular tumor with delayed washout pattern in portal venous phase (in liver).<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/23845671">{{cite journal| author=Cheung TT, Trendell-Smith N, Poon RT| title=Primary perivascular epithelioid cell tumour (PEComa) of the liver. | journal=BMJ Case Rep | year= 2013 | volume= 2013 | issue=  | pages=  | pmid=https://www.ncbi.nlm.nih.gov/pubmed/23845671 | doi=10.1136/bcr-2013-008706 | pmc=3736252 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23845671  }} </ref>
** Hypodense (15-50 hours field units) partially solid and partially [[Cyst|cystic]] [[tumor]] with moderate contrast uptake (in [[kidney]]).<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/27169023">{{cite journal| author=D'Andrea D, Hanspeter E, D'Elia C, Martini T, Pycha A| title=Malignant Perivascular Epithelioid Cell Neoplasm (PEComa) of the Pelvis: A Case Report. | journal=Urol Case Rep | year= 2016 | volume= 6 | issue=  | pages= 36-8 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/27169023 | doi=10.1016/j.eucr.2016.02.004 | pmc=4855909 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27169023  }} </ref>
* Mass with no other [[pathology]] (in uterus). <ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/27689526">{{cite journal| author=Theofanakis C, Thomakos N, Sotiropoulou M, Rodolakis A| title=Perivascular epithelioid cell tumor of the uterus: Report of two cases and mini-review of the literature. | journal=Int J Surg Case Rep | year= 2016 | volume= 28 | issue=  | pages= 85-87 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/27689526 | doi=10.1016/j.ijscr.2016.09.017 | pmc=5043388 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27689526  }} </ref>
** Hypervascular [[tumor]] with delayed washout pattern in [[Portal vein|portal venous]] phase (in [[liver]]).<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/23845671">{{cite journal| author=Cheung TT, Trendell-Smith N, Poon RT| title=Primary perivascular epithelioid cell tumour (PEComa) of the liver. | journal=BMJ Case Rep | year= 2013 | volume= 2013 | issue=  | pages=  | pmid=https://www.ncbi.nlm.nih.gov/pubmed/23845671 | doi=10.1136/bcr-2013-008706 | pmc=3736252 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23845671  }} </ref>
** Mass with no other [[pathology]] (in [[uterus]]).<ref name="pmidhttps://www.ncbi.nlm.nih.gov/pubmed/27689526">{{cite journal| author=Theofanakis C, Thomakos N, Sotiropoulou M, Rodolakis A| title=Perivascular epithelioid cell tumor of the uterus: Report of two cases and mini-review of the literature. | journal=Int J Surg Case Rep | year= 2016 | volume= 28 | issue=  | pages= 85-87 | pmid=https://www.ncbi.nlm.nih.gov/pubmed/27689526 | doi=10.1016/j.ijscr.2016.09.017 | pmc=5043388 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27689526  }} </ref>


===MRI===
===MRI===
There are no [[MRI]] findings associated with PEComas.
* There are no [[MRI]] findings associated with PEComas.


===Other Imaging Findings===
===Other Imaging Findings===
There are no other imaging findings associated with PEComas.
* There are no other imaging findings associated with PEComas.


===Other Diagnostic Studies===
===Other Diagnostic Studies===
There are no other diagnostic studies associated with PEComas.
* There are no other diagnostic studies associated with PEComas.


==Treatment==
==Treatment==
===Medical Therapy===
===Medical Therapy===
* There is no established medical therapy for PEComas.
* There is no established medical therapy for PEComas.
* Following chemotherapeutic and immunotherapeutic drugs have been tried with mixed results: <ref name="RigbyYu2005">{{cite journal|last1=Rigby|first1=Heather|last2=Yu|first2=Weiming|last3=Schmidt|first3=Matthias H.|last4=Fernandez|first4=Conrad V.|title=Lack of response of a metastatic renal perivascular epithelial cell tumor (PEComa) to successive courses of DTIC based-therapy and imatinib mesylate|journal=Pediatric Blood & Cancer|volume=45|issue=2|year=2005|pages=202–206|issn=1545-5009|doi=10.1002/pbc.20305}}</ref><ref name="ParfittBella2006">{{cite journal|last1=Parfitt|first1=Jeremy R|last2=Bella|first2=Anthony J|last3=Wehrli|first3=Bret M|last4=Izawa|first4=Jonathan I|title=Primary PEComa of the bladder treated with primary excision and adjuvant interferon-alpha immunotherapy: a case report|journal=BMC Urology|volume=6|issue=1|year=2006|issn=1471-2490|doi=10.1186/1471-2490-6-20}}</ref><ref>{{Cite journal
* Following [[Chemotherapy|chemotherapeutic]] and [[Immunotherapy|immunotherapeutic]] [[:Category:Drugs|drugs]] have been tried with mixed results: <ref name="RigbyYu2005">{{cite journal|last1=Rigby|first1=Heather|last2=Yu|first2=Weiming|last3=Schmidt|first3=Matthias H.|last4=Fernandez|first4=Conrad V.|title=Lack of response of a metastatic renal perivascular epithelial cell tumor (PEComa) to successive courses of DTIC based-therapy and imatinib mesylate|journal=Pediatric Blood & Cancer|volume=45|issue=2|year=2005|pages=202–206|issn=1545-5009|doi=10.1002/pbc.20305}}</ref><ref name="ParfittBella2006">{{cite journal|last1=Parfitt|first1=Jeremy R|last2=Bella|first2=Anthony J|last3=Wehrli|first3=Bret M|last4=Izawa|first4=Jonathan I|title=Primary PEComa of the bladder treated with primary excision and adjuvant interferon-alpha immunotherapy: a case report|journal=BMC Urology|volume=6|issue=1|year=2006|issn=1471-2490|doi=10.1186/1471-2490-6-20}}</ref><ref>{{Cite journal
  | author = [[In-sang Jeon]] & [[Sung Moon Lee]]
  | author = [[In-sang Jeon]] & [[Sung Moon Lee]]
  | title = Multimodal treatment using surgery, radiotherapy, and chemotherapy in a patient with a perivascular epithelioid cell tumor of the uterus
  | title = Multimodal treatment using surgery, radiotherapy, and chemotherapy in a patient with a perivascular epithelioid cell tumor of the uterus
Line 155: Line 149:
  | pmid = 16344678
  | pmid = 16344678
}}</ref>
}}</ref>
** [[Dacarbazine]]
** [[Dacarbazine]]
** [[Doxorubicin]]
** [[Doxorubicin]]
** [[Vincristine]]
** [[Vincristine]]
** [[Imatinib|Imatinib mesylate]]
** [[Imatinib|Imatinib mesylate]]
** [[Interferon]] alpha-b2
** [[Interferon alpha|Interferon alpha-b2]]


===Surgery===
===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.<ref name="Dimmler2003">{{cite journal|last1=Dimmler|first1=A|title=Late pulmonary metastasis in uterine PEComa|journal=Journal of Clinical Pathology|volume=56|issue=8|year=2003|pages=627–628|issn=0021-9746|doi=10.1136/jcp.56.8.627}}</ref>
* [[Surgery]] is the mainstay of treatment for PEComas, as well as for local recurrences and [[metastasis]], with the aim of obtaining clear resection margins.<ref name="Dimmler2003">{{cite journal|last1=Dimmler|first1=A|title=Late pulmonary metastasis in uterine PEComa|journal=Journal of Clinical Pathology|volume=56|issue=8|year=2003|pages=627–628|issn=0021-9746|doi=10.1136/jcp.56.8.627}}</ref>


===Primary Prevention===
===Primary Prevention===
There are no established measures for the [[primary prevention]] of PEComas.
* There are no established measures for the [[primary prevention]] of PEComas.


===Secondary Prevention===
===Secondary Prevention===
There are no established measures for the [[secondary prevention]] of PEComas.
* There are no established measures for the [[secondary prevention]] of PEComas.


==References==
==References==

Latest revision as of 23:31, 6 February 2019


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2] Associate Editor(s)-in-Chief: Zahir Ali Shaikh, MD[3]

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), 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

Classification

Malignant potential No. of criteria present
Benign None
Uncertain malignant potential One
Malignant ≥ Two

Pathophysiology

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

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 Check |pmid= value (help).
  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 Check |pmid= value (help).
  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 Check |pmid= value (help).
  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. doi:10.1007/s00428-007-0509-1. PMC 2234444. PMID https://www.ncbi.nlm.nih.gov/pubmed/18080139 Check |pmid= value (help).
  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. Unknown parameter |month= ignored (help)
  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 Check |pmid= value (help).
  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. doi:10.1038/modpathol.3880351. ISSN 0893-3952.
  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. doi:10.1016/j.ijscr.2016.09.017. PMC 5043388. PMID https://www.ncbi.nlm.nih.gov/pubmed/27689526 Check |pmid= value (help).
  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. doi:10.1016/j.eucr.2016.02.004. PMC 4855909. PMID https://www.ncbi.nlm.nih.gov/pubmed/27169023 Check |pmid= value (help).
  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. doi:10.1136/bcr-2013-008706. PMC 3736252. PMID https://www.ncbi.nlm.nih.gov/pubmed/23845671 Check |pmid= value (help).
  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. doi:10.1002/pbc.20305. ISSN 1545-5009.
  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). doi:10.1186/1471-2490-6-20. ISSN 1471-2490.
  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. Unknown parameter |month= ignored (help)
  18. ↑ Dimmler, A (2003). "Late pulmonary metastasis in uterine PEComa". Journal of Clinical Pathology. 56 (8): 627–628. doi:10.1136/jcp.56.8.627. ISSN 0021-9746.


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