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The effects of everolimus on tuberous sclerosis-associated lesions can be dramatic but may be impermanent

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Abstract

Background

Tuberous sclerosis complex (TSC) predisposes to the development of benign lesions within multiple organ systems, including the brain, kidneys, heart, lungs, and skin. Disease mortality is due to space-occupying subependymal giant cell astrocytomas and hemorrhage-prone renal angiomyolipomas. The recent use of mTORC1 inhibitors, such as everolimus, has allowed for direct targeting of TSC-associated mass lesions without apparent effect on surrounding tissues. Because of the mechanism of these drugs, there is reason to believe that these effects are not durable and that there may be need for continued long-term maintenance therapy.

Case-diagnosis/treatment

We present a case of TSC-associated mass lesions that were ill-suited for definitive surgical therapy. The patient was started on everolimus, however due to a complex social situation treatment was discontinued and ultimately resumed many months later. Radiologic studies acquired before and after each period of therapeutic onset/cessation reveal the dramatic but impermanent effects of mTORC1 inhibition.

Conclusions

While everolimus provides a non-invasive way to treat TSC-associated lesions, patients may require lifelong therapy. When termination of therapy is considered, the patient should be made aware of the expectation of potentially dramatic increases in lesion size. If consideration is to be given to definitive surgical therapy, it should be pursued while the patient is still on the medication, or at least soon after treatment is halted.

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Authors and Affiliations

  1. Department of Imaging, Cedars Sinai Medical Center, 8700 Beverly Blvd, Suite M-335, Los Angeles, CA, 90048, USA

    Joseph M. Miller, Ashley Wachsman & Katherine Haker

  2. Department of Pediatric Hematology and Oncology, Cedars Sinai Medical Center, Los Angeles, CA, USA

    Fataneh Majlessipour

  3. Department of Pediatric Neurosurgery, Cedars Sinai Medical Center, Los Angeles, CA, USA

    Moise Danielpour

  4. Department of Pediatric Nephrology and Transplant Immunology, Cedars Sinai Medical Center, Los Angeles, CA, USA

    Dechu Puliyanda

Authors
  1. Joseph M. Miller
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  2. Ashley Wachsman
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  3. Katherine Haker
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  4. Fataneh Majlessipour
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  5. Moise Danielpour
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  6. Dechu Puliyanda
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Corresponding author

Correspondence to Joseph M. Miller.

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Miller, J.M., Wachsman, A., Haker, K. et al. The effects of everolimus on tuberous sclerosis-associated lesions can be dramatic but may be impermanent. Pediatr Nephrol 30, 173–177 (2015). https://doi.org/10.1007/s00467-014-2949-6

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  • DOI: https://doi.org/10.1007/s00467-014-2949-6

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