Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors

Hereditary Cancer in Clinical Practice

Mark Pittelkow³  Jean E Lewis²  Jan Kasperbauer¹  Noralane M Lindor⁴ 

[1] Department of Otolaryngology;Department of Laboratory Medicine and Pathology;Department of Dermatology, Mayo Clinic Rochester;Department of Health Science Research, Mayo Clinic Arizona

关键词: Oncocytosis;    Warthins tumor;    Oncocytic;    Salivary gland;   

Others  :  806316
DOI  :  10.1186/1897-4287-10-13

 received in 2012-04-05, accepted in 2012-09-10,  发布年份 2012

【 摘 要 】

Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome.

【 授权许可】

   
2012 Lindor et al.; licensee BioMed Central Ltd.

【 图 表 】

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