Morphologic Features of Uterine Leiomyomas Associated With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome

Abstract

Patients with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome are prone to develop smooth muscle tumors of the uterus and skin and also renal carcinomas. The morphologic features of renal tumors that arise in the setting of HLRCC are well described, the hallmark feature being the presence of prominent eosinophilic nucleoli surrounded by a clear halo. Renal tumors associated with HLRCC are aggressive and often present late with high-stage disease. Early detection of patients with HLRCC could lead to surveillance for renal carcinomas. Women with HLRCC often present at a young age with uterine leiomyomas and frequently undergo hysterectomy as a result. HLRCC associated uterine leiomyomas show nuclear features similar to those described in HLRCC associated renal tumors. Therefore, presence of these nuclear features in uterine smooth muscle tumors may aid in early detection of HLRCC, resulting in surveillance for renal carcinoma. We present a case of a 32-year-old woman who underwent hysterectomy for uterine fibroids and subsequently presented 5 years later with high-stage renal carcinoma. Histologic evaluation of uterine leiomyomas and renal carcinoma revealed identical nuclear features, that is, prominent nucleoli with perinucleolar halos, raising the possibility of HLRCC. Subsequent testing confirmed a fumarate hydratase mutation. The presence of above-described nuclear features in uterine leiomyomas should raise the possibility of HLRCC.