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一名患有冯·希佩尔-林道基因突变的患者的多灶性肾嗜酸细胞瘤。

Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation.

作者信息

Fiske Joshua, Patel Rupa, Kau Eric, Pappas John G, Garcia Roberto A, Taneja Samir S

机构信息

Department of Urology, New York University School of Medicine/Bellevue Hospital, New York, New York, USA.

出版信息

Urology. 2005 Dec;66(6):1320. doi: 10.1016/j.urology.2005.06.122.

Abstract

Von Hippel-Lindau disease (VHL) is a rare genetic disease with a lifetime risk of clear cell renal cell carcinoma in approximately 70% of cases. We present a case of a 63-year-old man with bilateral, multifocal renal masses. Genetic testing results were consistent with a VHL deletion. The patient had no other disease manifestations consistent with VHL. The patient underwent staged bilateral nephron-sparing procedures. Pathology of all renal masses revealed oncocytoma. To our knowledge, we describe the first reported case of multiple renal oncocytomas in a male patient with a germline VHL mutation.

摘要

冯·希佩尔-林道病(VHL)是一种罕见的遗传性疾病,约70%的病例一生中患透明细胞肾细胞癌的风险较高。我们报告一例63岁男性患者,双侧多发肾肿块。基因检测结果与VHL缺失一致。该患者无其他与VHL相符的疾病表现。患者接受了分期双侧保留肾单位手术。所有肾肿块的病理检查均显示为嗜酸细胞瘤。据我们所知,我们描述了首例有生殖系VHL突变的男性患者发生多发性肾嗜酸细胞瘤的报道病例。

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