Pathologic Complete Response After Preoperative Ipilimumab and Nivolumab in an HLRCC Patient with Stage III Renal...

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.