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

被引：18
|
作者：
Lindor, Noralane M.
Kasperbauer, Jan [1 ]
Lewis, Jean E. [2 ]
Pittelkow, Mark [3 ]
机构：
[1] Mayo Clin Rochester, Dept Otolaryngol, Rochester, MN USA
[2] Mayo Clin Rochester, Dept Lab Med & Pathol, Rochester, MN USA
[3] Mayo Clin Rochester, Dept Dermatol, Rochester, MN USA
来源：
HEREDITARY CANCER IN CLINICAL PRACTICE | 2012年 / 10卷
关键词：
Salivary gland; Oncocytic; Warthins tumor; Oncocytosis; MUTATIONS; GLAND; GENE; HYPERPLASIA; FAMILIES;
D O I：
10.1186/1897-4287-10-13
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Mutations in FLCN cause Birt-Hogg-Dube 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-Dube syndrome.
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页数：4
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