Genetic and clinical characteristics of head and neck paragangliomas in a Chinese population.

OBJECTIVES/HYPOTHESIS: Head and neck paragangliomas (PGLs) are rare and frequently associated with germline mutations of the succinate dehydrogenase (SDH) genes, especially for familial cases. The purpose of the study was to explore genetic and clinical characteristics of head and neck PGLs in a Chinese population.

STUDY DESIGN: Retrospective review.

METHODS: One hundred thirty-two patients who had undergone resection for head and neck PGLs between 1975 and 2010 were identified. Clinical characteristics and outcomes were reviewed. Analysis of the SDH genes was performed in 29 patients and one kindred with familial PGL to identify germline mutations in the SDHB, SDHC, and SDHD genes by direct DNA sequencing.

RESULTS: There were 69 male (52.3%) and 63 female (47.76%) patients, with a mean age of 43.6 years (range, 13-72 years). Most lesions (61.4%) were PGLs of the carotid bifurcation. Others included jugular (25.0%), vagal (9.1%), and tympanic PGLs. Twenty-one patients (15.9%) had multiple PGLs, 25 patients (18.9%) had a malignant PGL, and 15 patients (11.4%) in four families were familial PGLs. Analysis of the SDH genes in 29 patients showed that four familial cases (including two patients) carried a heterozygotic missense mutation in SDHD. The mutation was W43X, located in SDHD-exon 2. Four sporadic cases carried samesense germline mutations in SDHB-exon 1, and they were all malignant PGLs.

CONCLUSIONS: Multifocal occurrence, potential malignancy, and genetic aspect should be considered in patients with head and neck PGLs. The high frequency of founder mutations in SDHB suggests a higher prevalence of malignancy, and the SDHD mutation is usually associated with familial cases.