TY  - EJOU
AU  - Howells, Erin 
AU  - Wigston, Lucas 
AU  - Mackie, Gavin 
AU  - Tran, Ben 
AU  - Nott, Louise 

TI  - Advanced fumarate hydratase-deficient renal  cell carcinoma responding to combination  immune checkpoint inhibitors
T2  - Canadian Journal of Urology

PY  - 2023
VL  - 30
IS  - 3
SN  - 1488-5581

AB  - 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. 
KW  - fumarate hydratase deficient renal cell carcinoma
KW  -  ipilimumab and nivolumab
KW  -  immunotherapy
KW  -  checkpoint inhibitors
KW  -  hereditary leiomyomatosis renal cell cancer syndrome

DO  -