TFEB -translocated and -amplified renal cell carcinoma with VEGFA co-amplification: A case of long-term control by multimodal therapy including a vascular endothelial growth factor-receptor inhibitor

IJU Case Reports

article

Hajime Takamori¹  Akiko Miyagi Maeshima²  Ikuma Kato³  Masaya Baba⁴  Eijiro Nakamura¹  Yoshiyuki Matsui¹ 

[1] Department of Urology, National Cancer Center Hospital;Department of Diagnositic Pathology, National Cancer Center Hospital;Department of Molecular Pathology, Yokohama City University Graduate School of Medicine;International Research Center for Medical Sciences, Kumamoto University

关键词: carcinoma;    renal cell;    gene amplification;    in situ hybridization;    fluorescence;    transcription factors;    vascular endothelial growth factor A;   

DOI  :  10.1002/iju5.12575

学科分类：社会科学、人文和艺术（综合）

来源: Wiley

【 摘 要 】

IntroductionRenal cell carcinoma with TFEB amplification is rare and reportedly aggressive. We herein report a case of renal cell carcinoma with TFEB translocation and amplification in which long-term control was achieved by multimodal therapy including a vascular endothelial growth factor -receptor inhibitor. Case presentationA 70-year-old man was referred to our institution for the treatment of renal cell carcinoma with multinodal metastases. Open nephrectomy and lymph node dissection were performed. Immunohistochemistry for transcription factor EB was positive, and fluorescent in situ hybridization revealed TFEB rearrangement and amplification. The diagnosis was TFEB-translocated and -amplified renal cell carcinoma. VEGFA amplification was also demonstrated by fluorescent in situ hybridization. The residual and recurrent tumors were treated and controlled for 52 months by vascular endothelial growth factor-receptor target therapy, radiation therapy, and additional surgery. ConclusionA good long-term response to anti-vascular endothelial growth factor drug therapy may be due to VEGFA amplification and subsequent vascular endothelial growth factor overexpression.

【 授权许可】

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