Renal tumors in tuberous sclerosis complex
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EDUCATIONAL REVIEW
Renal tumors in tuberous sclerosis complex Peter Trnka 1,2
&
Sean E. Kennedy 3,4
Received: 26 May 2020 / Revised: 11 August 2020 / Accepted: 10 September 2020 # IPNA 2020
Abstract Tuberous sclerosis complex (TSC) is a multisystem hereditary disorder characterized by the growth of benign tumors (hamartomas) in multiple organs, including the kidneys. Renal angiomyolipomas (AML) are a major diagnostic feature of TSC and are present in the majority of patients by adulthood. However, AML are usually asymptomatic during childhood when neurological and developmental manifestations are the main source of morbidity. Kidney manifestations of TSC have historically been the main cause of morbidity and mortality of adults with TSC. The recognition that the complications of TSC are caused by dysregulation of the mammalian target of rapamycin (mTOR) pathway has led to an enormous progress in the management of patients with TSC in the last two decades, the establishment of diagnostic guidelines, and trials which have shown the therapeutic benefit of mTOR inhibitors. Kidney surveillance of children with TSC now provides the opportunity for timely interventions to reduce the impact of TSC in adulthood. In this review, we discuss the current management of kidney tumors associated with TSC, including the diagnosis, surveillance, and treatment options for these lesions. We also present outcome data from international registries demonstrating the effectiveness of the current management strategies. With clear management guidelines and efficient treatment of kidney tumors, we envisage that the long-term outcomes of patients with TSC will further improve in the future. Keywords Tuberous sclerosis complex . Renal angiomyolipoma . Renal cell carcinoma . mTOR inhibitor
Introduction Tuberous sclerosis complex (TSC) is a multisystem hereditary disorder affecting over 1 million people worldwide with an incidence of approximately 1:6000 live births [1, 2]. The clinical manifestations of TSC are the consequence of loss-offunction mutations in one of the two TSC genes leading to the overactivity of the mammalian target of rapamycin
(mTOR) pathway. The main manifestation of TSC is the growth of benign tumors (hamartomas) in multiple organs, including the skin, the brain, the heart, the lungs, and the kidneys. In this educational review, we present the new information published over the last decade with an emphasis on the diagnosis, management, and follow-up data of the kidney tumors associated with TSC.
* Peter Trnka [email protected]
Genetics
Sean E. Kennedy [email protected] 1
Department of Nephrology, Queensland Children’s Hospital, South Brisbane, Queensland, Australia
2
Faculty of Medicine, School of Paediatrics and Child Health, University of Queensland, Brisbane, Queensland, Australia
3
Department of Nephrology, Sydney Children’s Hospital, Randwick, New South Wales, Australia
4
Faculty of Medicine, School of Women’s and Children’s Health, University of New South Wales, Sydney, New South W
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