A Case of Metastatic Fumarate Hydratase-Deficient-like Renal Cell Carcinoma Successfully Managed by Ipilimumab plus Nivolumab

Acta Med Okayama. 2021 Jun;75(3):397-402. doi: 10.18926/AMO/62237.


We report a 62-year-old male with metastatic fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) without fumarate hydratase (FH) mutation (FH-deficient-like RCC). The International Metastatic RCC Database Consortium risk score was intermediate, and immunotherapy with nivolumab and ipilimumab (Ipi/ Nivo) was initiated. Four cycles of Ipi/Nivo and 5 cycles of nivolumab resulted in a complete response of the metastases. Hypophysitis occurred as an immune-related adverse event after four cycles of Ipi/Nivo. The prognosis of patients with FH-deficient RCC is generally poor. Few reports of FH-deficient RCC successfully treated with Ipi/Nivo have been published. Ipi/Nivo can be effective for treating FH-deficient RCC.

Keywords: fumarate hydratase; fumarate hydratase-deficient renal cell carcinoma; ipilimumab; nivolumab; renal cell carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Agents, Immunological / adverse effects*
  • Antineoplastic Combined Chemotherapy Protocols
  • Carcinoma, Renal Cell / diagnostic imaging
  • Carcinoma, Renal Cell / genetics
  • Carcinoma, Renal Cell / pathology
  • Carcinoma, Renal Cell / therapy*
  • Fumarate Hydratase / deficiency
  • Fumarate Hydratase / genetics
  • Germ-Line Mutation
  • Humans
  • Ipilimumab / adverse effects*
  • Kidney Neoplasms / diagnostic imaging
  • Kidney Neoplasms / drug therapy*
  • Kidney Neoplasms / pathology
  • Male
  • Middle Aged
  • Nephrectomy
  • Nivolumab / administration & dosage*
  • Tomography, X-Ray Computed


  • Antineoplastic Agents, Immunological
  • Ipilimumab
  • Nivolumab
  • Fumarate Hydratase