Hereditary leiomyomatosis and renal cell carcinoma: a case report and literature review

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC), caused by germline FH mutations, is a rare autosomal dominant syndrome. This report details a 42-year-old woman with aggressive FH-deficient renal cell carcinoma (RCC) and multiple uterine leiomyomas. Radical nephrectomy and subsequent hysterectomy confirmed FH-deficient tumors via immunohistochemistry and genetic testing ( FH c.1240A>G, p. Lys414Glu). Despite adjuvant immunotherapy and targeted therapy, rapid bone metastasis occurred postoperatively. This case highlights the aggressive nature of HLRCC-associated RCC, underscores challenges in therapeutic management, and emphasizes the necessity of early genetic testing and multidisciplinary surveillance to improve outcomes.