Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare genetic disorder in which the affected individuals tend to develop cutaneous leiomyomas, uterine leiomyomas, and renal cell cancer (RCC). Within the spectrum of this syndromic disease, RCC is the most severe manifestation, occurring at a younger age compared to the sporadic form. Pathological suspicion or diagnosis of HLRCC is critical for appropriate clinical management and genetic counseling of the affected family members. In this study, we report the case of a 27-year-old misdiagnosed carrier of HLRCC phenotype, who presented with a large solitary Type II papillary RCC.
Keywords: Fumarate hydratase; hereditary cancer syndromes; leiomyomatosis; papillary renal cell carcinoma.