Fumarate hydratase-deficient renal cell carcinoma in extended remission with bevacizumab and erlotinib

Abstract

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant syndrome associated with fumarate hydratase (FH) gene mutation leading to defective DNA double-strand break repair mechanism. Although these tumours have an aggressive presentation, they respond well to targeted therapy with fewer adverse effects. Here we present a case of a 42-year-old female having isolated renal cell carcinoma, papillary type 2, carrying a mutation in the FH gene without cutaneous and uterine involvement. Her tumour responded well to erlotinib and bevacizumab combination and she was on treatment for 23 months. This report adds to the current literature and can help to define treatment protocols for HLRCC.