title: Long-lasting stable disease with mTOR inhibitor treatment in a patient with a perivascular epithelioid cell tumor: A case report and literature review.
abstract: Perivascular epithelioid cell tumor (PEComa) of the small intestine is extremely rare, and there is no established treatment at the present time. In 10% of patients with PEComas, genetic alterations of tuberous sclerosis complex have been reported. These genetic alterations activate mechanistic target of rapamycin (mTOR) in AMP-activated protein kinase and Ras/mitogen-activated protein kinase pathways, resulting in high mTOR activity. Since 2007, several cases of treatment with mTOR inhibitors in advanced PEComa have been reported. The current study presents the case of a patient with small bowel PEComa that metastasized to the brain and lungs. Following resection of the brain metastasis, the patient was treated with everolimus, a mTOR inhibitor, resulting in improvement if the patient's quality of life and a long period of stable disease. In conclusion, the use of mTOR inhibitors as a first-line treatment option in advanced PEComa patients appears to be reasonable, according to the increasing evidence from data observed from reported cases with this rare malignancy.
authors.affiliation: Division of Oncology, Rambam Health Care Campus and Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
authors.forename: Ezequiel
authors.initials: E
authors.lastname: Flechter
authors.affiliation: Pathology Institute, Rambam Health Care Campus and Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
authors.forename: Yaniv
authors.initials: Y
authors.lastname: Zohar
authors.affiliation: Computed Tomography Unit, Radiology Department, Rambam Health Care Campus and Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
authors.forename: Ludmila
authors.initials: L
authors.lastname: Guralnik
authors.affiliation: Division of Oncology, Rambam Health Care Campus and Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
authors.forename: Maria
authors.initials: M
authors.lastname: Passhak
authors.affiliation: Division of Oncology, Rambam Health Care Campus and Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
authors.forename: Gil Bar
authors.initials: GB
authors.lastname: Sela
keywords: PEComa; everolimus; literature review; mTOR inhibitor