Everolimus in the treatment of giant renal angiomyolipoma associated with tuberous sclerosis

• Autor(a) principal: Oliveira,Miguel
• Data de Publicação: 2016
• Outros Autores: Costa,Marta Sofia, Barra,Tiago, Silva,Andreia, Sousa,Tânia, Rodrigues,Joana, Costa,Filipa, Lemos,Sérgio
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692016000200009
• topic: Everolimus; renal angiomyolipoma; tuberous sclerosis

Tuberous sclerosis complex is an autosomal dominant disorder characterized by the development of multiple tumours in distinct organs, although the ones most frequently affected are the skin, central nervous system, kidney, lung and liver. The kidney is the third most frequently affected organ, and angiomyolipomas are the most common lesions. Two-thirds of patients have sporadic mutations of the genes responsible for the disease, called tuberous sclerosis complex 1 and 2, encoding hamartin and tuberin, respectively. Hamartin and tuberin are tumoural suppressor proteins that are engaged in the control of cell proliferation and differentiation. When the tuberous sclerosis complex 1-2 suffers mutation, the mammalian target of rapamycin complex 1 pathway is constitutively activated, leading to neoplastic growth. Everolimus is a drug that inhibits mammalian target of rapamycin pathway and it is being used successfully in the treatment of renal angiomyolipomas associated with tuberous sclerosis complex. The authors report a case of a 34-year-old woman with tuberous sclerosis and giant renal angiomyolipoma, who received everolimus 10 mg daily for 6 months, but this was not associated with a reduction in the angiomyolipoma volume. This case describes the use of a systemic therapy in a rare genetic disorder. Although the treatment with everolimus did not reduce the patient’s renal angiomyolipoma volume and, thus, was apparently ineffective, no new lesions, bleeding episodes or deterioration of the kidney function were observed, suggesting that everolimus may have prevented disease progression