延胡索酸水合酶缺陷型肾癌12例诊治分析  

Diagnosis and treatment of 12 cases of fumarate hydratase-deficient renal cell carcinoma

作　　者：郭一铭 毕天祥 王朝亮[1] 李琦[1] GUO Yiming;BI Tianxiang;WANG Chaoliang;LI Qi(Department of Urology,The First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院泌尿外科,河南郑州450052

出　　处：《现代泌尿外科杂志》2023年第9期742-747,784,共7页Journal of Modern Urology

基　　金：河南省医学科技攻关省部共建重点项目(No.SBGJ202102118)。

摘　　要：目的总结并分析延胡索酸水合酶缺陷型肾细胞癌(FH-RCC)的临床资料,提高对其诊断、治疗及预后的认知。方法回顾性分析郑州大学第一附属医院2019年3月—2021年12月收治的12例FH-RCC患者的一般临床资料,总结分析患者的影像学、病理学、基因检测、手术治疗和辅助治疗、随访结果等信息。结果12例FH-RCC均经病理或基因检测确诊,1例并发子宫肌瘤,3例并发肾囊肿。4例子宫肌瘤家族史,2例肾癌家族史。4例影像学呈囊实性不规则密度影,增强幅度为25.8 Hu。7例行基因检测,2例发生胚系和体系突变、1例胚系突变、1例体系突变、3例未判断胚系或体系突变。9例接受肾根治手术治疗,平均手术时间3.8 h,平均出血量625 mL。10例患者行免疫治疗以及靶向药物等全身治疗,7例为手术联合术后辅助治疗,1例酪氨酸激酶抑制剂联合免疫检查点抑制剂治疗(TKI/ICI)具有良好效果。12例均获得随访资料,3例因肿瘤复发死亡、1例未见复发、8例见肿瘤影像学进展。结论FH-RCC是一种罕见且高度恶性的肾细胞癌分型,易发生转移。影像学可表现为囊实性占位,存在特征性FH免疫组化染色阴性,需基因检测确诊。TKI/ICI联合治疗方案有良好生存获益。Objective To summarize and analyze the clinical data of fumarate hydrase-deficient renal cell carcinoma(FH-RCC),so as to improve the understanding of the disease.Methods General clinical data of 12 FH-RCC patients treated during Mar.2019 and Dec.2021 were retrospectively analyzed,including the imaging,pathological,genetic testing,surgical and adjuvant therapy,and follow-up results.Results All cases were confirmed with pathology or genetic tests,including 1 case complicated with uterine fibroids,3 cases with renal cysts,4 with family history of uterine fibroids and 2 with family history of renal carcinoma.Cysticular irregular density shadows with an enhancement of 25.8 Hu were detected in 4 cases.Of the 7 cases undergoing genetic testing,2 had embryo and system mutation,1 had germ line mutation,1 had system mutation,and 3 had no germ line or system mutation.Radical nephrotomy was performed in 9 cases.The average operation time was 3.8 h,and the average amount of blood loss was 625 mL.Immunotherapy with targeted therapy was conducted in 10 cases,surgery with postoperative adjuvant therapy in 7 cases,and tyrosine kinase inhibitor with immune checkpoint inhibitor(TKI/ICI)in 1 case.All 12 cases were followed up,3 died of tumor,1 had no recurrence,8 showed progress on imaging.Conclusion FH-RCC is a rare and highly malignancy prone to metastasis.Imaging shows cystic solid space occupying lesions.FH immunohistochemical staining is negative.Genetic testing is needed to confirm the diagnosis.TKI/ICI combination therapy has a good survival benefit.

关 键 词：延胡索酸水合酶 肾细胞癌 延胡索酸水合酶缺陷型肾癌 遗传性平滑肌瘤肾细胞癌综合征 

分 类 号：R692[医药卫生—泌尿科学]