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{{Infobox Disease |
#redirect [[PEComa]]
Name = PEComa |
Image = Renal angiomyolipoma (2).jpg |
Caption = Histopathologic image of [[kidney|renal]] [[angiomyolipoma]]. [[Nephrectomy]] specimen. [[H&E stain]]. |
DiseasesDB = |
ICD10 = |
ICD9 = |
ICDO = |
OMIM = |
MedlinePlus = |
eMedicineSubj = orthoped |
eMedicineTopic = 377 |
MeshID = D054973 |
}}

In [[oncology]], '''PEComa''', also '''PEC tumour''' and '''perivascular epithelioid cell tumour''', is a family of [[mesenchymal tumour]]s consisting of [[peri-|peri]][[vascular]] epithelioid [[cell (biology)|cell]]s (PECs).<ref name=martignoni>{{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. |volume=452 |issue=2 |pages=119–32 |year=2008 |month=February |pmid=18080139 |pmc=2234444 |doi=10.1007/s00428-007-0509-1 |url=}}</ref> These are rare tumours that can occur in any part of the human body.

The cell type from which these tumours originate remains unknown. Normally, no perivascular epitheloid cells exist; the name refers to the characteristics of the tumour when examined under the microscope.<ref name="HumanPathology2009">{{cite journal |last=Folpe |first=AL |authorlink= |coauthors=Kwiatkowski DJ |year=2009 |title=Perivascular epitheloid cell neoplasms: pathology and pathogenesis |journal=Human Pathology |url= |accessdate=September 14, 2009 | pmid = 19604538 |volume=41 |issue=1 |pages=1–15 |doi=10.1016/j.humpath.2009.05.011 }}</ref>

Establishing the malignant potential of these tumours remains challenging although criteria<ref name="criteria">{{cite journal |last=Folpe AL, Mentzel T, Lehr HA, Fisher C, Balzer BL, Weiss SW |year=2005 |month=Dec |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 |volume=29 |issue=12 |pages=1558–75 |first1=AL |last2=Mentzel |first2=T |last3=Lehr |first3=HA |last4=Fisher |first4=C |last5=Balzer |first5=BL |last6=Weiss |first6=SW | pmid = 16327428 }}</ref> have been suggested; some PEComas display malignant features whereas others can cautiously be labeled as having 'uncertain malignant potential'.<ref name="HumanPathology2009"/> The most common tumours in the PEComa family are [[renal]] [[angiomyolipoma]] and [[pulmonary]] [[lymphangioleiomyomatosis]], both of which are more common in patients with [[tuberous sclerosis complex]]. The genes responsible for this multi-system genetic disease have also been implicated in other PEComas.<ref name="HumanPathology2009"/>

Many PEComa types shows a female predominance in the sex ratio.

==Histologic appearance==
PECs consist of perivascular [[epithelioid]] cells with a clear/granular [[cytoplasm]] and central round nucleus without prominent [[nucleoli]].

==Immunohistochemical markers==
PECs typically stain for melanocytic markers ([[HMB-45]], [[Melan A]] (Mart 1), [[Mitf]]) and myogenic markers ([[actin]], [[myosin]], [[calponin]]).

==PECs and other conditions==
PECs bear significant [[histologic]] and [[immunohistochemical]] similarity to:
*[[angiomyolipoma]],
*clear-cell sugar tumour (CCST),
*[[lymphangioleiomyomatosis]], and,
*clear-cell myomelanocytic tumour of [[ligamentum teres]]/[[falciform ligament]].
*abdominopelvic sarcoma of perivascular epitheloid cells<ref name="HumanPathology2009"/>
*primary extrapulmonary sugar tumour<ref name="HumanPathology2009"/>
Thus, it has been advocated that the above could be classified PEComas.<ref name=martignoni/>

==Etiology==
The precursor cell of PEComas is currently unknown; there is no normal counterpart "perivascular epitheloid cell".<ref name=martignoni/> Genetically, PECs are linked to the [[tuberous sclerosis]] [[gene]]s [[TSC1]] and [[TSC2]], although this link is stronger for angiomyolipoma and lymphangioleiomyomatosis than for other members of the PEComa family.

==Differential diagnosis==
PEComas are rare and can have myriad features; therefore, they can be confused with [[carcinoma]]s, [[smooth muscle tumour]]s, [[adipocyte|adipocytic]] tumours, clear cell [[sarcoma]]s, [[melanoma]]s and [[gastrointestinal stromal tumour]]s (GIST).<ref name="HumanPathology2009"/>

==References==
{{reflist}}

{{Soft tissue tumors and sarcomas}}
{{Vascular tumors}}

[[Category:Vascular neoplasia]]

Revision as of 23:44, 10 August 2013

Perivascular epithelioid cell tumour
SpecialtyOncology Edit this on Wikidata

In oncology, PEComa, also PEC tumour and perivascular epithelioid cell tumour, is a family of mesenchymal tumours consisting of perivascular epithelioid cells (PECs).[1] These are rare tumours that can occur in any part of the human body.

The cell type from which these tumours originate remains unknown. Normally, no perivascular epitheloid cells exist; the name refers to the characteristics of the tumour when examined under the microscope.[2]

Establishing the malignant potential of these tumours remains challenging although criteria[3] have been suggested; some PEComas display malignant features whereas others can cautiously be labeled as having 'uncertain malignant potential'.[2] The most common tumours in the PEComa family are renal angiomyolipoma and pulmonary lymphangioleiomyomatosis, both of which are more common in patients with tuberous sclerosis complex. The genes responsible for this multi-system genetic disease have also been implicated in other PEComas.[2]

Many PEComa types shows a female predominance in the sex ratio.

Histologic appearance

PECs consist of perivascular epithelioid cells with a clear/granular cytoplasm and central round nucleus without prominent nucleoli.

Immunohistochemical markers

PECs typically stain for melanocytic markers (HMB-45, Melan A (Mart 1), Mitf) and myogenic markers (actin, myosin, calponin).

PECs and other conditions

PECs bear significant histologic and immunohistochemical similarity to:

Thus, it has been advocated that the above could be classified PEComas.[1]

Etiology

The precursor cell of PEComas is currently unknown; there is no normal counterpart "perivascular epitheloid cell".[1] Genetically, PECs are linked to the tuberous sclerosis genes TSC1 and TSC2, although this link is stronger for angiomyolipoma and lymphangioleiomyomatosis than for other members of the PEComa family.

Differential diagnosis

PEComas are rare and can have myriad features; therefore, they can be confused with carcinomas, smooth muscle tumours, adipocytic tumours, clear cell sarcomas, melanomas and gastrointestinal stromal tumours (GIST).[2]

References

  1. ^ a b c 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 18080139. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  2. ^ a b c d e f Folpe, AL (2009). "Perivascular epitheloid cell neoplasms: pathology and pathogenesis". Human Pathology. 41 (1): 1–15. doi:10.1016/j.humpath.2009.05.011. PMID 19604538. {{cite journal}}: |access-date= requires |url= (help); Unknown parameter |coauthors= ignored (|author= suggested) (help)
  3. ^ Folpe AL, Mentzel T, Lehr HA, Fisher C, Balzer BL, Weiss SW, 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 16327428. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
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