以多发性子宫肌瘤首诊的遗传性平滑肌瘤病和肾细胞癌综合征一例并文献复习

A Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome First Diagnosed with Multiple Uterine Fibroids and Literature Review

遗传性平滑肌瘤病和肾细胞癌(hereditary leiomyomatosis and renal cell carcinoma,HLRCC)综合征是一种罕见的延胡索酸水合酶(fumarase hydratase,FH)基因胚系突变遗传性疾病,其早期主要临床表现为多发性子宫肌瘤和皮肤平滑肌瘤。HLRCC综合征相关性肾脏恶性肿瘤的发生通常较晚,是影响患者预后的主要因素。因此,HLRCC综合征的早诊断及相关性肾细胞癌的早预防对HLRCC综合征患者的预后至关重要。目前HLRCC综合征的诊断主要依靠典型的临床表现及病理免疫组织化学检查,确诊手段为FH基因检测。报告1例以多发性子宫肌瘤为首要症状的HLRCC综合征患者,子宫切除术后病理检查示肌瘤细胞FH免疫组织化学检查呈阴性。超声检查示左肾2.9 cm×2.6 cm×2.8 cm占位。手术切除左肾占位后行病理检查提示为肾细胞癌,肿瘤细胞免疫组织化学检查示FH阴性、2-琥珀酸半胱氨酸(2-succinylcysteine,2SC)阳性。FH基因检测确诊HLRCC综合征。患者术后随访6个月无复发。同时回顾HLRCC综合征相关文献,旨在加深临床医生对HLRCC综合征的认识,尽早干预病程发展,改善患者预后。

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.