富马酸水合酶缺乏性肾细胞癌合并肝转移：病例报告
Fumarate hydratase-deficient renal cell carcinoma complicated with liver metastasis: case report.
作者信息
Chen Hanmin, Zeng Qingming, Liu Folin, Zou Xiaofeng
机构信息
Department of Urology, The First Affiliated Hospital of Gannan Medical University, Ganzhou, China.
出版信息
Front Surg. 2024 Nov 1;11:1430344. doi: 10.3389/fsurg.2024.1430344. eCollection 2024.
BACKGROUND
Fumarate hydratase-deficient renal cell carcinoma (FH-RCC) is a rare subtype of kidney tumor. Most of them are solitary lesions, making preoperative diagnosis difficult, aggressive, and with poor prognosis. They may metastasize even at an early stage, however, there is currently no optimal diagnostic and therapeutic approach for metastatic FH-RCC.
METHODS
We report the case of a 34-year-old male patient with renal tumor and liver metastasis, who underwent open tumor resection of the right kidney combined with resection of liver metastases. Postoperative pathology was confirmed, followed by targeted therapy.
RESULTS
Postoperative pathological results confirmed FH-RCC, targeted therapy was performed after surgery. No tumor recurrence was observed during the follow-up of almost 16 months.
CONCLUSION
FH-RCC patients with liver metastasis can achieve a good prognosis through early resection of primary tumor and metastatic lesions combined with targeted therapy.
背景
富马酸水合酶缺陷型肾细胞癌（FH-RCC）是一种罕见的肾肿瘤亚型。它们大多为孤立性病变，术前诊断困难，侵袭性强，预后较差。它们甚至可能在早期就发生转移，然而，目前对于转移性FH-RCC尚无最佳的诊断和治疗方法。
方法
我们报告了一例34岁男性肾肿瘤伴肝转移患者，该患者接受了右肾开放性肿瘤切除术及肝转移灶切除术。术后病理确诊，随后进行靶向治疗。
结果
术后病理结果确诊为FH-RCC，术后进行了靶向治疗。在近16个月的随访期间未观察到肿瘤复发。
结论
肝转移的FH-RCC患者通过早期切除原发肿瘤和转移灶并结合靶向治疗可获得良好预后。
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