Advanced fumarate hydratase-deficient renal cell carcinoma responding to combination immune checkpoint inhibitors
- Author(s)
- Howells, E; Wigston, L; Mackie, G; Tran, B; Nott, L;
- Details
- Publication Year 2023-06,Volume 30,Issue #3,Page 11558-11561
- Journal Title
- Canadian Journal of Urology
- Publication Type
- Case report
- Abstract
- Fumarate hydratase deficient (FHdef) renal cell carcinoma (RCC) is rare, highly aggressive and is believed to arise mostly in the setting of hereditary leiomyomatosis RCC (HLRCC) syndrome with a germline mutation of fumarate hydratase (FH) gene. There is currently little evidence regarding the most effective systemic treatment for advanced FHdef RCC. We present three cases of metastatic FHdef RCC, all achieving tumor response with combination immunotherapy ipilimumab and nivolumab (Ipi/Nivo). A 50-year-old male, a 27-year-old male and a 48-year-old female. The clinical features, diagnosis and medical imaging are reviewed.
- Publisher
- Canadian Journal of Urology
- Keywords
- Male; Female; Humans; Middle Aged; Adult; *Carcinoma, Renal Cell/drug therapy/genetics/pathology; *Kidney Neoplasms/drug therapy/genetics/pathology; Fumarate Hydratase/genetics; Immune Checkpoint Inhibitors; Germ-Line Mutation; *Skin Neoplasms/drug therapy/genetics; checkpoint inhibitors; fumarate hydratase deficient renal cell carcinoma; hereditary leiomyomatosis renal cell cancer syndrome; immunotherapy; ipilimumab and nivolumab
- Department(s)
- Medical Oncology
- PubMed ID
- 37344468
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2023-09-05 07:38:04
Last Modified: 2023-09-05 07:38:18