Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare, aggressive hereditary cancer syndrome caused by germline mutations in the fumarate hydratase (FH) gene. Affected patients typically present with renal cell carcinoma (RCC) at a young age and often experience rapidly progressive disease and poor outcomes. Mean survival is significantly shorter for stages III and IV than for stages I and II (15.8 vs 80.7 months), underscoring the need for more effective therapeutic strategies. Here, we report an HLRCC patient with stage III RCC who achieved a pathologic complete response following one cycle of dual immune checkpoint blockade with nivolumab and ipilimumab and remains disease-free 15 months later. This case extends findings from previous reports and suggests that dual checkpoint blockade may result in clinically meaningful activity in a subset of patients.
Journal of kidney cancer and VHL. 2026 Jun 01*** epublish ***
Neil Rakheja, Payal Kapur, John Zimmerman, Asim Afaq, James Brugarolas, Jeffrey Cadeddu, Hans Hammers
St. Mark's School of Texas, Dallas, TX, USA., Kidney Cancer Program at Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX., Cancer Genetics Program of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX., Department of Radiology, University of Texas Southwestern Medical Center, Dallas, TX., Department of Urology, University of Texas Southwestern Medical Center, Dallas, TX.