Abstract:

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a rare inherited disorder with germline mutations in the fumarase hydratase (FH) gene. Its early main clinical manifestations are multiple uterine fibroids and skin leiomyoma. The occurrence of HLRCC-related renal malignant tumors is usually late, it is the main factor affecting the prognosis of patients. Therefore, early diagnosis of HLRCC syndrome and early prevention of associated renal cell carcinoma are crucial for the prognosis of patients with HLRCC syndrome. At present, the diagnosis of HLRCC mainly depends on typical clinical manifestations and pathological immunohistochemistry, and the diagnosis method is FH gene detection. A case of HLRCC with multiple uterine fibroids as the primary symptom was reported. After hysterectomy, the tumor cells were negative for FH immunohistochemistry. Ultrasound showed a 2.9 cm×2.6 cm×2.8 cm mass in the left kidney. After nephrectomy, the pathological examination was renal cell carcinoma. The tumor cells were immunohistochemically FH negative and 2-succinylcysteine (2SC) positive. FH gene detection confirmed HLRCC syndrome. The patient was followed up for 6 months without recurrence. This article also reviews the literature related to HLRCC syndrome, aiming to deepen clinicians′ understanding of HLRCC syndrome, intervene early in the course of the disease, and improve the prognosis of patients.

Key words: Carcinoma, renal cell, Fumarate hydratase, Mutation, Hereditary leiomyomatosis and renal cell carcinoma syndrome, Uterine leiomyoma