Study the Three Type of Angiomyolipoma in Molecular Pathology Features and Clinical Outcomes

In year 2004 World Health Organization classification of tumors defines epithelioid angiomyolipoma of the kidney (E-AML) as renal mesenchyma tumor with malignant potential, there were one third of reported cases developing metastasis. Not like renal angiomyolipoma, EAML is a rare disease, the etiology and prognosis is still to be discovered. We have recently treated a male patient having a huge left renal tumor with lung metastasis, lung biopsy showed metastatic epithelioid angiomyolipoma, neoadjuvant target therapy with Everolimus resulting decrease size of renal tumor and number of lung metastatic lesions, a successful left nephrectomy was done and the operation was successful. Everolimus belongs to one of the mTOR (mammalian target of rapamycin) inhibitors, other than used for cancer target therapy, also used in the treatment of tuberous sclerosis complex (TSC)-related brain lesions and renal angiomyolipoma. Renal AML is closely related to TSC by dmonstrating loss of heterozygosity (LOH) of the TSC complex, the role of TSC on epithelioid AML was still. Epithelioid angiomyolipoma of the kidney / renal angiomyolipoma / tuberous sclerosis associated angiomyolipoma or whether there is a common variation of the three individual variation needs to be further investigated. In this proposal, we want to investigate the possible regulatory mechanisms and methylation pattern of mTOR signaling pathway in malignant eAML. Besides, we will use MIRA combined with Microarray or next-generation sequencing technique (NGS) to find a possible novel mechanism in this disease. Furthermore, comprehensive clinical data of the three types of Angiomyolipoma in Lin-Kou Chang Gung hospital will be established and analyzed. We will study the histologic characteristics of these tumors to find their clinical significance and prognostic factors. This study will provide not only a better understanding in the pathogenesis of Angiomyolipoma but also an important referance for the management of Angiomyolipoma.

Project ID:PC10601-0872
External Project ID:MOST105-2314-B182-024-MY3