Perivascular epithelioid cell tumors (PEComas) are infrequent neoplasms with peculiar myomelanocytic differentiation. The aggressive abdominopelvic variant is rare, with only a small number of published cases. We present an additional case of this unusual variant, which showed an aggressive histologic and clinical behavior with multiple liver metastases and resistance to several therapies. We also discuss the histological and immunohistochemical profiles as well as the differential diagnosis.
FolpeALMentzelTLehrHAFisherCBalzerBLWeissSW.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. 2005;29:1558-1575.
2.
DoyleLAHornickJLFletcherCD.PEComa of the gastrointestinal tract: clinicopathologic study of 35 cases with evaluation of prognostic parameters. Am J Surg Pathol. 2013;37:1769-1782.
3.
ChenZShiHPengJYuanYChenJSongW.Perivascular epithelioid cell tumor in the duodenum: challenge in differential diagnosis. Int J Clin Exp Pathol. 2015;8:8555-8562.
4.
ThwayKFisherC.PEComa: morphology and genetics of a complex tumor family. Ann Diagn Pathol. 2015;19: 359-368.
5.
YanaiHMatsuuraHSonobeHShiozakiSKawabataK.Perivascular epithelioid cell tumor of the jejunum. Pathol Res Pract. 2003;199:47-50.
6.
BonettiFMartignoniGColatoCAbdominopelvic sarcoma of perivascular epithelioid cells. Report of four cases in young women, one with tuberous sclerosis. Mod Pathol. 2001;14:563-568.
7.
AgaimyAWunschPH.Perivascular epithelioid cell sarcoma (malignant PEComa) of the ileum. Pathol Res Pract. 2006;202:37-41.
8.
ChenZHanSWuJA systematic review: perivascular epithelioid cell tumor of gastrointestinal tract. Medicine (Baltimore). 2016;95:e3890.
9.
D’AndreaDHanspeterED’EliaCMartiniTPychaA.Malignant perivascular epithelioid cell neoplasm (PEComa) of the pelvis: a case report. Urol Case Rep. 2016;6:36-38.
10.
MartignoniGPeaMReghellinDZamboniGBonettiF.PEComas: the past, the present and the future. Virchows Arch. 2008;452:119-132.
YanaiHMatsuuraHSonobeHShiozakiSKawabataK.Perivascular epithelioid cell tumor of the jejunum. Pathol Res Pract. 2003;199:47-50.
13.
ShiHYWeiLXSunLGuoAT.Clinicopathologic analysis of 4 perivascular epithelioid cell tumors (PEComas) of the gastrointestinal tract. Int J Surg Pathol. 2010;18: 243-247.
14.
WeinrebIHowarthDLattaEGhazarianDChettyR.Perivascular epithelioid cell neoplasms (PEComas): four malignant cases expanding the histopathological spectrum and a description of a unique finding. Virchows Arch. 2007;450:463-470.
15.
HarrisGCMcCullochTAPerksGFisherC.Malignant perivascular epithelioid cell tumour (“PEComa”) of soft tissue: a unique case. Am J Surg Pathol. 2004;28:1655-1658.
16.
SchoolmeesterJKHowittBEHirschMSDal CinPQuadeBJNucciMR.Perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: clinicopathologic and immunohistochemical characterization of 16 cases. Am J Surg Pathol. 2014;38:176-188.
17.
ArganiPAulmannSIlleiPBA distinctive subset of PEComas harbors TFE3 gene fusions. Am J Surg Pathol. 2010;34:1395-1406.
18.
AgaramNPSungYSZhangLDichotomy of genetic abnormalities in PEComas with therapeutic implications. Am J Surg Pathol. 2015;39:813-825.
19.
MalinowskaIKwiatkowskiDJWeissSMartignoniGNettoGArganiP.Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction. Am J Surg Pathol. 2012;36:783-784.
20.
SchoolmeesterJKDaoLNSukovWRTFE3 translocation-associated perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: morphology, immunophenotype, differential diagnosis. Am J Surg Pathol. 2015;39:394-404.
21.
ShenQRaoQXiaQYPerivascular epithelioid cell tumor (PEComa) with TFE3 gene rearrangement: clinicopathological, immunohistochemical, and molecular features. Virchows Arch. 2014;465:607-613.
22.
DicksonMASchwartzGKAntonescuCRKwiatkowskiDJMalinowskaIA.Extrarenal perivascular epithelioid cell tumors (PEComas) respond to mTOR inhibition: clinical and molecular correlates. Int J Cancer. 2013;132:1711-1717.
23.
BensonCVitfell-RasmussenJMaruzzoMA retrospective study of patients with malignant PEComa receiving treatment with sirolimus or temsirolimus: the Royal Marsden Hospital experience. Anticancer Res. 2014;34:3663-3668.
24.
StarbuckKDDrakeRDBuddGTRosePG.Treatment of advanced malignant uterine perivascular epithelioid cell tumor with mTOR inhibitors: single-institution experience and review of the literature. Anticancer Res. 2016;36:6161-6164.
25.
GaoFHuangCZhangYCombination targeted therapy of VEGFR inhibitor, sorafenib, with an mTOR inhibitor, sirolimus induced a remarkable response of rapid progressive uterine PEComa. Cancer Biol Ther. 2016;17:595-598.
26.
CuratoloPBjørnvoldMDillPEThe role of mTOR inhibitors in the treatment of patients with tuberous sclerosis complex: evidence-based and expert opinions. Drugs. 2016;76:551-565.
27.
BatereauCKnöselTAngeleMNeoadjuvant or adjuvant sirolimus for malignant metastatic or locally advanced perivascular epithelioid cell tumors: two case reports. Anticancer Drugs. 2016;27:254-258.
28.
ItalianoADelcambreCHosteinITreatment with the mTOR inhibitor temsirolimus in patients with malignant PEComa. Ann Oncol. 2010;21:1135-1137.
29.
WagnerAJMalinowska-KolodziejIMorganJAClinical activity of mTOR inhibition with sirolimus in malignant perivascular epithelioid cell tumors: targeting the pathogenic activation of mTORC1 in tumors. J Clin Oncol. 2010;28:835-840.
