The online version of this article (doi:10.1186/1477-7819-10-181) contains supplementary material, which is available to authorized users.
The authors declare that they have no competing interests.
Conception and design: VM and DV. Provision of study material: CG, EKV, AKP. Collection and assembly of data: VM. Manuscript writing: VM. All authors read and approved the final manuscript.
Perivascular epithelioid cell tumor (PEComa) is an extremely rare neoplasm that appears to arise most commonly at visceral (especially gastrointestinal and uterine), retroperitoneal, and abdominopelvic sites. Malignant PEComas exist but are very rare. These tumors represent a family of mesenchymal neoplasms, mechanistically linked through activation of the mTOR signaling pathway. Metastatic PEComa is a rare form of sarcoma for which no effective therapy has been described previously and that has a uniformly fatal outcome. Although there is no known effective therapy, the molecular pathophysiology of aberrant mTOR signaling provides a scientific rationale to target this pathway therapeutically. The difficulty in determining optimal therapy, owing to the sparse literature available, led us to present this case. On this basis, we report a case of metastatic retroperitoneal PEComa treated with an oral mTOR inhibitor, with everolimus achieving significant clinical response.
Martignoni G, Pea M, Reghellin D, Gobbo S, Zamboni G, Chilosi M, Bonetti F: Molecular pathology of lymphangioleiomyomatosis and other perivascular epithelioid cell tumors. Arch Pathol Lab Med. 2010, 134: 33-40. PubMed
Armah HB, Parwani AV: Perivascular epithelioid cell tumor. Arch Pathol Lab Med. 2009, 4: 648-654.
Bleeker JS, Quevedo JF, Folpe AL: “Malignant” perivascular epithelioid cell neoplasm: risk stratification and treatment strategies. Sarcoma. 2012, 201 (2): 541626-
Italiano A, Delcambre C, Hostein I, Cazeau AL, Marty M, Avril A, Coindre JM, Bui B: Treatment with the mTOR inhibitor temsirolimus in patients with malignant PEComa. Ann Oncol. 2010, 5: 1135-1137. CrossRef
Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM, Schmithorst VJ, Laor T, Brody AS, Bean J, Salisbury S, Franz DN: Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med. 2008, 2: 140-151. CrossRef
Beaumont TL, Limbrick DD, Smyth MD: Advances in the management of subependymal giant cell astrocytoma. Childs Nerv Syst. 2012, 7: 963-968. CrossRef
Kaufman McNamara E, Curtis AR, Fleischer AB:Successful treatment of angiofibromata of tuberous sclerosis complex with rapamycin. J Dermatolog Treat. 2012, 1: 46-48. CrossRef
Kenerson H, Folpe AL, Takayama TK, Yeung RS: Activation of the mTOR pathway in sporadic angiomyolipomas and other perivascular epithelioid cell neoplasms. Hum Patho. 2007, 9: 1361-1371. CrossRef
Pan CC, Chung MY, Ng KF, Liu CY, Wang JS, Chai CY, Huang SH, Chen PC, Ho DM: Constant allelic alteration on chromosome 16p (TSC2 gene) in perivascular epithelioid cell tumour (PEComa): genetic evidence for the relationship of PEComa with angiomyolipoma. J Pathol. 2008, 3: 387-393. CrossRef
- Successful treatment with the mTOR inhibitor everolimus in a patient with Perivascular epithelioid cell tumor
Paraskevi Vasilatou Kairi
- BioMed Central
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