Genetic and clinical characteristics of head and neck paragangliomas in a chinese population

• DOI: 10.1002/lary.23360
• Publication Date: 2012-05-07T16:49:36Z
• Authors: Xiangqian Zheng; Songfeng Wei; Yang Yu; Tingting Xia; Jing Zhao; Songyuan Gao; Yigong Li; Ming Gao
• Keywords: SDHD; SDHB

Abstract Objectives/Hypothesis: Head and neck paragangliomas (PGLs) are rare frequently associated with germline mutations of the succinate dehydrogenase (SDH) genes, especially for familial cases. The purpose study was to explore genetic clinical characteristics head PGLs in a Chinese population. Study Design: Retrospective review. Methods: One hundred thirty‐two patients who had undergone resection between 1975 2010 were identified. Clinical outcomes reviewed. Analysis SDH genes performed 29 one kindred PGL identify SDHB, SDHC, SDHD by direct DNA sequencing. Results: There 69 male (52.3%) 63 female (47.76%) patients, mean age 43.6 years (range, 13–72 years). Most lesions (61.4%) carotid bifurcation. Others included jugular (25.0%), vagal (9.1%), tympanic PGLs. Twenty‐one (15.9%) multiple PGLs, 25 (18.9%) malignant PGL, 15 (11.4%) four families showed that cases (including two patients) carried heterozygotic missense mutation SDHD. W43X, located SDHD‐exon 2. Four sporadic samesense SDHB‐exon 1, they all Conclusions: Multifocal occurrence, potential malignancy, aspect should be considered high frequency founder SDHB suggests higher prevalence is usually Laryngoscope, 2012