title: Genetic and clinical characteristics of head and neck paragangliomas in a Chinese population.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
authors.affiliation: Department of Head and Neck, Thyroid and Neck Tumor, Oncology Key Laboratory of Cancer Prevention and Therapy, Tianjin, China.
authors.forename: Xiangqian
authors.initials: X
authors.lastname: Zheng
authors.forename: Songfeng
authors.initials: S
authors.lastname: Wei
authors.forename: Yang
authors.initials: Y
authors.lastname: Yu
authors.forename: Tingting
authors.initials: T
authors.lastname: Xia
authors.forename: Jing
authors.initials: J
authors.lastname: Zhao
authors.forename: Songyuan
authors.initials: S
authors.lastname: Gao
authors.forename: Yigong
authors.initials: Y
authors.lastname: Li
authors.forename: Ming
authors.initials: M
authors.lastname: Gao
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006258:Head and Neck Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics / Q000473:pathology / Q000556:secondary; D008207:Lymphatic Metastasis / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009361:Neoplasm Invasiveness; D010235:Paraganglioma / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000556:secondary / Q000601:surgery; D018807:Polymorphism, Single-Stranded Conformational / Q000235:genetics; D017422:Sequence Analysis, DNA; D013385:Succinate Dehydrogenase / Q000235:genetics*; D055815:Young Adult
chemical_list: D013385:Succinate Dehydrogenase