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

Erin Howells¹, Lucas Wigston², Gavin Mackie¹, Ben Tran³, Louise Nott⁴

1 Royal Hobart Hospital, Tasmania, Australia
2 Flinders University, South Australia, Australia
3 Department of Medical Oncology, Peter MacCallum Cancer Centre, Victoria, Australia
4 Icon Cancer Centre, Tasmania, Australia
Address correspondence to Lucas Wigston, Flinders University, South Australia, Australia

Canadian Journal of Urology 2023, 30(3), 11558-11561.

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.

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