本文报道一例延胡索酸水合酶（FH）缺陷型晚期肾细胞癌的病例。患者因"反复发热5个月，确诊右肾癌伴全身多发转移4个月"入南方医科大学南方医院就诊。患者外院PET-CT提示右肾占位，左肺上叶及右肺下叶多发结节，纵膈内及双侧肺门多发肿大淋巴结，氟代脱氧葡萄糖代谢异常增高，考虑右肾恶性肿瘤伴肺转移、纵膈、淋巴结转移。右肾穿刺病理提示乳头状肾细胞癌。基因检测报告提示：变异基因（FHp.P177fs）。患者于外院行2个疗程"舒尼替尼"抗肿瘤靶向治疗后入我科进一步治疗。考虑患者右肾癌伴全身多发转移，术前副肿瘤综合征病情严重，为改善患者症状，经泌尿系肿瘤多学科会诊后行机器人辅助腹腔镜下减瘤性右肾切除术。术后病理提示右肾细胞癌，符合FH缺陷型肾细胞癌。经广东省医学会泌尿外科疑难病例多学科会诊，专家考虑患者符合FH缺陷型肾细胞癌，建议术后予靶向联合免疫治疗。经靶向联合3次免疫治疗后复查转移灶消失或明显缩小。因此，对于肾转移性晚期非透明细胞癌，全身综合治疗效果比透明细胞癌差，可考虑减瘤手术+术后靶免联合治疗。

This article reports a case of fumarate hydratase(FH) deficient advanced renal cell carcinoma. The patient presented to Nanfang Hospital of Southern Medical University due to "recurrent fever and diagnosed with right renal carcinoma with multiple systemic metastases for more than 4 months". The PET-CT scan showed a mass in the right kidney, multiple nodules in the left upper lobe and right lower lobe of the lung, multiple enlarged lymph nodes in the mediastinum and bilateral pulmonary hilum, with abnormal fluorode-oxyglucose metabolism. The diagnosis considered malignant tumor of the right kidney with lung, mediastinal, and lymph node metastases. Pathological examination from right renal puncture suggested papillary renal cell carcinoma. Genetic testing revealed a variant gene (FHp.P177fs). After two cycles of "Sunitinib" targeted anti-tumor therapy in the external hospital, the patient was referred to our department for further treatment. Considering the severe condition of the patient with right renal carcinoma and multiple systemic metastases of the preoperative paraneoplastic syndrome, a multidisciplinary consultation on urological tumors was conducted and the patient underwent robot-assisted laparoscopic tumor-reducing right nephrectomy. Postoperative pathology confirmed renal cell carcinoma, consistent with FH-deficient type. After multidisciplinary consultation on difficult cases of urological surgery by the Guangdong Provincial Medical Association, experts considered the patient was diagnosed FH-deficient type advanced renal cell carcinoma, postoperative targeted combined immunotherapy was recommended. After targeted treatment combined with three courses of immunotherapy, reexamination showed disappearance or significant reduction of metastatic lesions. Therefore, for metastatic advanced non-clear cell carcinoma of kidney, the overall comprehensive treatment effect is worse than that of clear cell renal cell carcinoma, and tumor-reducing surgery combined with postoperative targeted combined immunotherapy can be considered.