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

The Laryngoscope
Xiangqian ZhengMing Gao

Abstract

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. Retrospective review. 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. 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-ex...Continue Reading

References

Dec 1, 1971·American Journal of Surgery·W R ShamblinE G Harrison
May 9, 2001·American Journal of Medical Genetics·J M MilunskyA Milunsky
Feb 22, 2002·Cancer·John H LeeUNKNOWN American Cancer Society
Aug 26, 2004·JAMA : the Journal of the American Medical Association·Hartmut P H NeumannUNKNOWN European-American Paraganglioma Study Group
Mar 30, 2005·Hormone Research·Judith FavierUNKNOWN PGL.NET Network
Jun 15, 2005·Journal of Internal Medicine·A Khorram-ManeshS Jansson
Dec 1, 2005·The Journal of Clinical Endocrinology and Metabolism·Diana E BennBruce G Robinson
Aug 17, 2006·The Journal of Clinical Endocrinology and Metabolism·Frederieke M BrouwersKarel Pacak
Dec 13, 2006·Endocrine Pathology·Ronald R de KrijgerWinand N M Dinjens
Jan 18, 2007·The Journal of Clinical Endocrinology and Metabolism·B HavekesJ A Romijn
Jul 20, 2007·Endocrine-related Cancer·Esther KorpershoekRonald R de Krijger
Nov 2, 2007·Clinical Endocrinology·Henri J L M TimmersAnne-Paule Gimenez-Roqueplo
Jan 24, 2008·Nature Clinical Practice. Endocrinology & Metabolism·Mariola PeczkowskaHartmut P H Neumann
Mar 5, 2009·The Journal of Clinical Endocrinology and Metabolism·Alberto CascónMercedes Robledo
May 21, 2009·The Journal of Clinical Endocrinology and Metabolism·Nelly BurnichonUNKNOWN PGL.NET network
Jun 15, 2010·BMC Medical Genetics·Frederik J HesEleonora P M Corssmit
Sep 28, 2010·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·D Brandon ChapmanJ Dale Browne

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