Leaving the Excision Site Open After Complete Excision of a Large Paracervical Leiomyoma With Fumarate Hydratase (FH)-Deficient Morphology May Decrease the Risk of Developing Renal Cell Carcinoma

Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a rare autosomal dominant disorder characterized by cutaneous leiomyomas, uterine leiomyomas, and an increased risk of renal cell carcinoma. HLRCC may be preliminarily suspected through characteristic histopathologic features, but definitive diagnosis requires germline fumarate hydratase (FH) mutation testing. We report the case of a 41-year-old African American carrier of HLRCC phenotype who was diagnosed following hysterectomy and pathologic evaluation of a large leiomyoma in an unusually low-lying location of the uterus, demonstrating FH-deficient morphology. This case highlights potential links to the pathophysiology of how HLRCC-associated renal cell cancers may arise from FH-deficient leiomyomas around a decade later. Leaving the excision site open after complete excision of this leiomyoma with FH-deficient morphology may decrease the risk of developing renal cell carcinoma.