Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome–Associated Renal Cell Carcinoma Showing High FDG Uptake

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a rare autosomal-dominant disease, characterized by the development of cutaneous and uterine leiomyomas and renal cell carcinoma (RCC). Approximately 20% to 30% of patients with HLRCC syndrome develop RCC resembling sporadic type 2 papillary RCC, which is aggressive and associated with a poor prognosis. Information on the clinical usefulness of FDG PET/CT in HLRCC syndrome-associated RCC is limited. We present a case of HLRCC syndrome-associated RCC showing high FDG uptake in both the primary RCC and retroperitoneal lymph node metastases. In addition, the patient had 2 hypermetabolic uterine leiomyomas.