Advanced fumarate hydratase-deficient renal cell carcinoma responding to combination immune checkpoint inhibitors
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

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