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The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
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Renal tumors in tuberous sclerosis complex.

Peter Trnka1,2, Sean E Kennedy3,4

  • 1Department of Nephrology, Queensland Children's Hospital, South Brisbane, Queensland, Australia. peter.trnka@health.qld.gov.au.

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Tuberous Sclerosis Complex (TSC) management has advanced with mTOR inhibitors, improving kidney tumor outcomes. Early surveillance in children with TSC is crucial for preventing adult morbidity and mortality.

Keywords:
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Area of Science:

  • Nephrology
  • Genetics
  • Oncology

Background:

  • Tuberous Sclerosis Complex (TSC) is a genetic disorder causing benign tumors in multiple organs, notably the kidneys.
  • Renal angiomyolipomas (AML) are common in TSC patients, becoming a major cause of morbidity and mortality in adulthood.
  • Dysregulation of the mammalian target of rapamycin (mTOR) pathway underlies TSC complications.

Purpose of the Study:

  • To review current management strategies for TSC-associated kidney tumors.
  • To discuss diagnosis, surveillance, and treatment options for renal lesions in TSC.
  • To highlight the impact of improved management on long-term patient outcomes.

Main Methods:

  • Review of current clinical management guidelines for TSC-associated kidney tumors.
  • Analysis of outcome data from international TSC patient registries.
  • Discussion of therapeutic benefits of mTOR inhibitors in TSC management.

Main Results:

  • mTOR inhibitors have significantly improved TSC management over the past two decades.
  • Established diagnostic guidelines and ongoing trials demonstrate the efficacy of mTOR inhibitors.
  • Kidney surveillance in children with TSC enables timely interventions.

Conclusions:

  • Current management strategies, including surveillance and mTOR inhibitor therapy, are effective for TSC-associated kidney tumors.
  • Improved management of kidney tumors is expected to enhance long-term outcomes for individuals with TSC.
  • Continued adherence to management guidelines and efficient treatment are vital for optimizing patient health.