Hereditary Renal Tumor Syndromes and the Use of mTOR Inhibitors

Oncology (Williston Park). 2024 Oct 17;38(10):376-380. doi: 10.46883/2024.25921027.

Abstract

The Case A 47-year-old woman with a history of drug-resistant epilepsy during childhood presented to the emergency department with sudden dyspnea and chest pain. Upon admission, her oxygen saturation was 88%. A chest CT scan revealed pulmonary cystic lesions consistent with lymphangioleiomyomatosis and a right spontaneous pneumothorax, which resolved with the placement of a chest tube. Physical examination revealed a hypopigmented macule on the skin of the lumbar region, facial angiofibromas, and periungual fibromas. An abdominal MRI documented multiple bilateral renal tumors that were hypointense on T2-weighted imaging and showed a black boundary artifact, suggestive of fat-poor angiomyolipomas (AMLs). Subsequent percutaneous biopsy of the largest renal tumor confirmed the diagnosis of angiomyolipoma (positive for HMB-45 on immunohistochemistry). The brain MRI revealed subependymal nodules. The pulmonary function tests showed a mild obstructive pattern. Germline genetic testing confirmed the suspected diagnosis, and the patient started oral systemic treatment with everolimus (Afinitor) 10 mg once daily, along with dexamethasone rinses for prophylaxis.

Publication types

  • Case Reports

MeSH terms

  • Angiomyolipoma / drug therapy
  • Angiomyolipoma / genetics
  • Angiomyolipoma / pathology
  • Everolimus / therapeutic use
  • Female
  • Humans
  • Kidney Neoplasms* / drug therapy
  • Kidney Neoplasms* / genetics
  • Kidney Neoplasms* / pathology
  • MTOR Inhibitors* / therapeutic use
  • Middle Aged
  • Neoplastic Syndromes, Hereditary / drug therapy
  • Neoplastic Syndromes, Hereditary / genetics
  • TOR Serine-Threonine Kinases

Substances

  • MTOR Inhibitors
  • Everolimus
  • MTOR protein, human
  • TOR Serine-Threonine Kinases