Abstract
Reed syndrome, also known as Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), is an autosomal dominant genetic disorder caused by a mutation in the fumarate hydratase (FH) gene. It is characterized by multiple cutaneous and uterine leiomyomas, with an associated risk of developing aggressive type 2 papillary renal cell carcinoma [3,4]. This case report describes a 35-year-old nulligravid woman with symptomatic uterine leiomyomatosis. After failed embolization therapy, she underwent open myomectomy. Histopathology and immunohistochemistry confirmed FH deficiency, establishing the diagnosis of HLRCC. The patient was referred to oncology for surveillance due to the associated risk of renal cancer. Follow-up abdominal and pelvic MRI showed no recurrence. Subsequently, the patient presented with infertility, highlighting the reproductive implications of the disease. Early recognition of HLRCC is critical for cancer surveillance and genetic counseling. This case emphasizes both the oncological and reproductive consequences of the syndrome, underlining the importance of timely diagnosis and multidisciplinary management.
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Copyright (c) 2026 Isadora Ferreira Kozlowski, Larissa Maria Moreira, Thayna Franquetto Gadens, Ismael Schabib Villavicencio, Suellen Peruzzo, Livia Arias Saia, Marina Nunes Machado