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

页码：2572 / 2575

页数：4

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