PEComas: the past,the present and the future |
| |
Authors: | Guido Martignoni Maurizio Pea Daniela Reghellin Giuseppe Zamboni Franco Bonetti |
| |
Institution: | (1) Department of Pathology, Università di Verona, Verona, Italy;(2) Anatomia Patologica, Università di Verona, Strada Le Grazie n. 8, Verona, Italy |
| |
Abstract: | The perivascular epithelioid cell (PEC) is a cell type constantly present in a group of tumors called PEComas. PEC expresses
myogenic and melanocytic markers, such as HMB45 and actin. Recently, recurrent chromosomal alterations have been demonstrated
in PEC. At present, PEComa is a widely accepted entity. In the past 10 years, the use of this term has allowed to report and
describe numerous cases permitting to start highlighting the biology of this group of lesions. PEComas are related to the
genetic alterations of tuberous sclerosis complex (TSC), an autosomal dominant genetic disease due to losses of TSC1 (9q34)
or TSC2 (16p13.3) genes which seem to have a role in the regulation of the Rheb/mTOR/p70S6K pathway. There are some open questions
about PEComas regarding its histogenesis, the definition of epithelioid angiomyolipoma and the identification of the histological
criteria of malignancy. An innovative therapeutic trial using rapamycin is under way for tumors occurring in TSC such as renal
angiomyolipoma and lymphangioleiomyomatosis. Its success could provide the rationale for the use of the same drug in other
lesions composed of PECs, especially in the malignant ones. |
| |
Keywords: | PEComa PEC Angiomyolipoma Lymphangioleiomyomatosis Sugar tumor TSC mTOR Rapamycin |
本文献已被 PubMed SpringerLink 等数据库收录! |
|