原发性肾平滑肌肉瘤1例报告并文献复习  

Primary leiomyosarcoma of the kidney:a case report and literature review

作　　者：赵真 李健[1] 王小波[1] ZHAO Zhen;LI Jian;WANG Xiaobo(Department of Urology, Tianjin Union Medical Center, Tianjin 300131, China)

机构地区：[1]天津市人民医院泌尿外科,300131

出　　处：《现代泌尿生殖肿瘤杂志》2022年第1期37-39,47,共4页Journal of Contemporary Urologic and Reproductive Oncology

摘　　要：目的探讨原发性肾平滑肌肉瘤的临床表现、影像学及病理特点、治疗方式和预后。方法回顾性分析1例原发性肾平滑肌肉瘤患者的临床资料,患者泌尿系彩超和CT提示左肾占位性病变,胸部CT未见异常。行腹腔镜下左肾癌根治术,术后行基因检测,依据结果予静脉化疗联合靶向治疗,并进行随访观察。结果术后病理回报:(左肾肿瘤)平滑肌肉瘤,肿物大小约8.5 cm,左输尿管切端未见癌,肾门淋巴结2枚,未见癌转移(0/2)。肿瘤组织和血液基因检测:EGFR、KRAS、ALK、ROS1、ERBB2、PIK3CA、MET、NRAS、BRAF、BRCA1/2均为野生型;MTOR点突变、PTEN缺失突变、TP53缺失突变,TMB 23.3 mut/Mb。患者术后3个月复查发现双肺多发转移灶,予化疗联合靶向治疗6个周期后病情稳定,继续行单纯靶向治疗;术后9个月复查发现双肺转移灶进展,行肺转移灶射频消融治疗;术后12个月复查发现双肺转移灶变大,术后15个月复查发现肝转移、胸10椎体转移。结论原发性肾平滑肌肉瘤在临床上罕见,该病恶性程度高,预后较差。临床表现和影像学检查无特异性,病理诊断为金标准。手术根治切除为目前主要治疗方法,术后辅助性化疗联合靶向治疗可以带来一定获益。Objective To investigate the features of clinical performance,imaging,pathology,treatment and prognosis of primary leiomyosarcoma of the kidney.Methods The clinical data of one patient with primary leiomyosarcoma of the kidney were analyzed retrospectively,and left lumbar pain was the chief complaint.Bilateral kidney doppler ultrasound and abdominal CT scans found left renal mass,while chest CT scan revealed no abnormalities.Radical nephrectomy of left kidney was performed and followed by chemotherapy and targeted therapy.Results Pathological report showed that the mass was leiomyosarcoma of left kidney with 8.5cm in diameter.It's also showed that the ureteral margins and the renal hilar lymph nodes(0/2)were negative.Tumor tissue and blood genetic testing suggested the wild-typed gene:EGFR,KRAS,ALK,ROS1,ERBB2,PIK3CA,MET,NRAS,BRAF,BRCA1/2,and it's also found point mutation in MTOR,deletion mutation in PTEN and TP53,the TMB was 23.3mut/Mb.Lung metastases were found 3 months after the surgery,and six cyclescombination treatment of chemotherapy and targeted therapy were performed,then targeted therapy alone followed.A neoplasm metastasis lesion was found 9 months after the surgery,and the patient was treated with radiofrequency ablation to lung metastases.Liver and 10th thoracic vertebra metastases were found by CT scan at 15-month follow-up.Conclusions Primary leiomyosarcoma of the kidney is a rare and highly malignant tumor with no typical performance,and postoperative pathology is the gold standard for diagnosis.Radical resection is the main treatment,and combination treatment of chemotherapy and targeted therapy may obtain benefit.

关 键 词：原发性肾平滑肌肉瘤 化疗 靶向治疗:基因检测 

分 类 号：R73[医药卫生—肿瘤]