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.

引用

页数：4

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