Percutaneous ultrasound-guided radiofrequency ablation treatment and genetic testing for renal cell carcinoma with Von Hippel-Lindau disease.
Percutaneous ultrasound-guided radiofrequency ablation treatment and genetic testing for renal cell carcinoma with Von Hippel-Lindau disease.
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DOI：
10.3233/xst-2012-0323
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发表时间：
2012
影响因子：
3
通讯作者：
Yong Gao;Ming Xu;Zuo-Feng Xu;Dawei Liu;X. Tu;Yan-ling Zheng;Dao‐hu Wang;Xiang-zhou Sun;Fu-fu Zheng;S. Qiu;Ming-de Lü;Yuanyuan Zhang;Xiao-yan Xie;Chun-hua Deng
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文献类型：
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作者：
Yong Gao;Ming Xu;Zuo-Feng Xu;Dawei Liu;X. Tu;Yan-ling Zheng;Dao‐hu Wang;Xiang-zhou Sun;Fu-fu Zheng;S. Qiu;Ming-de Lü;Yuanyuan Zhang;Xiao-yan Xie;Chun-hua Deng
经皮超声引导射频消融术在肾肿瘤治疗中的研究日益增多。由于经皮超声引导射频消融是一种微创且保留肾单位的手术，因此非常适合单肾、多发肿瘤或有传统手术禁忌症的患者。我们报道了一名患有 Von Hippel-Lindau (VHL) 病的患者，该患者的单肾存在多中心肿瘤，并通过经皮超声引导射频消融成功治疗。一年随访显示，未见局部复发或转移。基因检测显示，该患者在VHL基因外显子1的515位核苷酸处存在T至G杂合错义突变。
Percutaneous ultrasound-guided radiofrequency ablation is increasingly being studied in the treatment of renal tumors. Because percutaneous ultrasound-guided radiofrequency ablation is a minimally invasive and nephron-sparing procedure, it is ideally suited for patients with a single kidney, multiple tumors, or contraindications to conventional surgery. We report on a patient with Von Hippel-Lindau (VHL) disease who had multicentric tumors in the single kidney that was successfully treated with percutaneous ultrasound-guided radiofrequncy ablation. The one-year follow-up showed that there was no local recurrence or metastasis. And genetic testing showed the patient had a T to G heterozygotic missense mutation at nucleotide 515 of VHL gene exon 1.