Percutaneous ultrasound-guided radiofrequency ablation treatment and genetic testing for renal cell carcinoma with Von Hippel-Lindau disease

Article type: Research Article

Authors: Gao, Yong | Xu, Ming | Xu, Zuo-Feng | Liu, Da-Wei | Tu, Xiang-An | Zheng, Yan-Ling | Wang, Dao-Hu | Sun, Xiang-Zhou | Zheng, Fu-Fu | Qiu, Shao-Peng | Lü, Ming-De | Zhang, Yuan-Yuan | Xie, Xiao-Yan | Deng, Chun-Hua

Affiliations: Department of Urology, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China | Department of Medical Ultrasonics, Institute of Diagnostic and Interventional Ultrasound, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China | Department of Pathology, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China | Department of Hepatobiliary Surgery, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China | Institute for Regenerative Medicine, Wake Forest University, Winston-Salem, NC, USA

Note: [] Corresponding authors: Prof. Xiao-Yan Xie, Department of Medical Ultrasonics, Institute of Diagnostic and Interventional Ultrasound, the First Affiliated Hospital of Sun Yat-Sen University, 58 Zhong Shan Road 2, Guangzhou 510080, China. Tel.: +86 20 87765183; Fax: +86 20 87765183; E-mail: [email protected]; Prof. Chun-Hua Deng, Department of Urology, the First Affiliated Hospital of Sun Yat-Sen University, 58 Zhong Shan Road 2, Guangzhou 510080, China. Tel.: +86 20 87333300; Fax: +86 20 87333300; E-mail: [email protected]

Abstract: 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.

Keywords: Percutaneous ultrasound-guided radiofrequncy ablation, genetic analyses, renal cell carcinoma, Von Hippel-Lindau disease

DOI: 10.3233/XST-2012-0323

Journal: Journal of X-Ray Science and Technology, vol. 20, no. 1, pp. 121-129, 2012