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伴有SDHB基因突变的恶性膀胱嗜铬细胞瘤

Malignant bladder pheochromocytoma with SDHB genetic mutation.

作者信息

Maeda M, Funahashi Y, Katoh M, Fujita T, Tsuruta K, Gotoh M

机构信息

Department of Urology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

出版信息

Aktuelle Urol. 2013 Sep;44(5):381-2. doi: 10.1055/s-0033-1345147. Epub 2013 Jun 27.

Abstract

A 30-year-old man presented with micturition pain and was diagnosed with a submucosal tumor in the right wall of the bladder with metastasis to the right obturator lymph node. Transurethral resection led to a diagnosis of invasive malignant pheochromocytoma. Radical cystectomy, neobladder reconstruction and bilateral iliac lymph node dissection were performed. Genetic analysis revealed succinate dehydrogenase B-associated hereditary pheochromocytoma/paraganglioma syndrome. 10 months after the operation, he had no evidence of recurrence.

摘要

一名30岁男性因排尿疼痛就诊,被诊断为膀胱右壁黏膜下肿瘤并伴有右侧闭孔淋巴结转移。经尿道切除术确诊为侵袭性恶性嗜铬细胞瘤。遂行根治性膀胱切除术、新膀胱重建术及双侧髂淋巴结清扫术。基因分析显示为琥珀酸脱氢酶B相关性遗传性嗜铬细胞瘤/副神经节瘤综合征。术后10个月,无复发迹象。

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