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Case Reports
. 2022 Jul 8;51(7):679-681.
doi: 10.3760/cma.j.cn112151-20211003-00724.

[Birt-Hogg-Dubé syndrome: report of a case]

[Article in Chinese]
J Xu  1 , G L Jin  1 , Y Y Wang  1 , Youyun Zhang  2
Affiliations
Case Reports

[Birt-Hogg-Dubé syndrome: report of a case]

[Article in Chinese]
J Xu et al. Zhonghua Bing Li Xue Za Zhi. .

Abstract

患者女，55岁。因“体检发现双肾肿物半个月余”入院，行双肾肿物切除。镜下显示肿瘤呈推挤样生长，与正常组织分界清，个别结节内见纤维化玻璃样变的分隔，间质极少。肿瘤细胞排列成腺管状、腺泡状、巢团状，间以丰富的薄壁血管。肿瘤细胞胞质丰富，部分嗜酸性颗粒状、部分淡染空泡状甚至透明，胞膜清晰；细胞核大，核仁清晰，可见奇异核，双核及核周空晕。免疫组织化学显示肿瘤表达PAX8、CD117及SDHB，部分表达细胞角蛋白7。患者外周血基因检测显示FLCN基因第11号外显子1285号碱基位缺失。结合患者胸部CT显示的多发肺大疱及面部的白色丘疹，诊断为Birt-Hogg-Dubé综合征相关肾细胞肿瘤。.

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