遗传性平滑肌瘤病及肾细胞癌综合征(HLRCC)系因延胡索酸酶(FH)基因发生胚系突变,使患者发生皮肤平滑肌瘤、子宫肌瘤和肾细胞癌(RCC)的风险增加。HLRCC相关性肾肿瘤具有临床侵袭性,患者可从监测和早期检测中获益。与HLRCC相关的皮肤平滑肌瘤具有肿瘤发生早且为多发性等典型特征。已知RCC和子宫肌瘤的某些形态学特征,如核周空晕包绕大的嗜酸性巨核仁及胞质内嗜酸性包涵 Hereditary leiomyomata and renal cell carcinoma syndrome (HLRCC) are associated with an increased risk of leiomyoma, uterine fibroids, and renal cell carcinoma (RCC) due to germline mutations in the fumarase (FH) gene. HLRCC-associated renal tumors are clinically aggressive and patients benefit from monitoring and early detection. Skin leiomyoma associated with HLRCC has typical features such as early onset and multiple tumorigenesis. Known RCC and some of the morphological features of uterine fibroids, such as perinuclear halo around large eosinophilic megakaryocytes and cytoplasmic eosinophilic inclusions