A Novel SDHB Mutation Associated with Hereditary Head and Neck Paraganglioma

被引：3
|
作者：
Peck, Brandon W. [4 ]
Rich, Thereasa A. [2 ]
Jimenez, Camilo [3 ]
Kupferman, Michael E. [1 ]
机构：
[1] Univ Texas MD Anderson Canc Ctr, Dept Head & Neck Surg, Houston, TX 77030 USA
[2] Univ Texas MD Anderson Canc Ctr, Dept Surg Oncol, Houston, TX 77030 USA
[3] Univ Texas MD Anderson Canc Ctr, Dept Endocrine Neoplasia & Hormonal Disorders, Houston, TX 77030 USA
[4] Baylor Coll Med, Dept Med, Houston, TX 77030 USA
来源：
LARYNGOSCOPE | 2011年 / 121卷 / 12期
基金：
美国国家卫生研究院;
关键词：
Succinate dehydrogenase; paraganglioma; SDHB; PGL4; PHEOCHROMOCYTOMAS;
D O I：
10.1002/lary.22352
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
Objectives/Hypothesis: To describe a novel germline mutation in the succinate dehydrogenase subunit B (SDHB) gene. Study Design: Retrospective review. Methods: The medical records of a patient with bilateral carotid body paragangliomas were reviewed. Results: A 35-year-old woman with a family history of neck masses presented with bilateral carotid body paragangliomas. DNA sequencing revealed a previously unreported conservative substitution (Leu111Val) mutation in the SDHB gene. Conclusions: The Leu111Val germline mutation of SDHB is likely associated with a phenotype of head and neck paragangliomas, and carriers would benefit from periodic screening for sympathetic paragangliomas.
引用
收藏
页码：2572 / 2575
页数：4
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