Literature DB >> 22109755

A novel SDHB mutation associated with hereditary head and neck paraganglioma.

Brandon W Peck1, Thereasa A Rich, Camilo Jimenez, Michael E Kupferman.   

Abstract

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.
Copyright © 2011 The American Laryngological, Rhinological, and Otological Society, Inc.

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Year:  2011        PMID： 22109755      PMCID： PMC3420815          DOI： 10.1002/lary.22352

Source DB:  PubMed          Journal:  Laryngoscope        ISSN： 0023-852X            Impact factor:   3.325


  8 in total

1.  Are we overestimating the penetrance of mutations in SDHB?

Authors:  Francesca Schiavi; Roger L Milne; Emma Anda; Pilar Blay; Maurizio Castellano; Giuseppe Opocher; Mercedes Robledo; Alberto Cascón
Journal:  Hum Mutat       Date:  2010-06       Impact factor: 4.878

Review 2.  Paragangliomas of the head and neck.

Authors:  Michael E Kupferman; Ehab Y Hanna
Journal:  Curr Oncol Rep       Date:  2008-03       Impact factor: 5.075

Review 3.  Review: Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes?

Authors:  Camilo Jiménez; Gilbert Cote; Andrew Arnold; Robert F Gagel
Journal:  J Clin Endocrinol Metab       Date:  2006-05-30       Impact factor: 5.958

4.  Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma.

Authors:  Nidia Y Cerecer-Gil; Luis E Figuera; Francisco J Llamas; Mauricio Lara; José G Escamilla; Ruben Ramos; Gerardo Estrada; A Karim Hussain; José Gaal; Esther Korpershoek; Ronald R de Krijger; Winand N M Dinjens; Peter Devilee; Jean Pierre Bayley
Journal:  Clin Cancer Res       Date:  2010-06-30       Impact factor: 12.531

Review 5.  Genetics of pheochromocytomas and paragangliomas.

Authors:  Giuseppe Opocher; Francesca Schiavi
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2010-12       Impact factor: 4.690

6.  Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

Authors:  Hartmut P H Neumann; Christian Pawlu; Mariola Peczkowska; Birke Bausch; Sarah R McWhinney; Mihaela Muresan; Mary Buchta; Gerlind Franke; Joachim Klisch; Thorsten A Bley; Stefan Hoegerle; Carsten C Boedeker; Giuseppe Opocher; Jörg Schipper; Andrzej Januszewicz; Charis Eng
Journal:  JAMA       Date:  2004-08-25       Impact factor: 56.272

7.  Malignant head and neck paragangliomas: is there an optimal treatment strategy?

Authors:  Daniel J Moskovic; Joseph R Smolarz; Douglas Stanley; Camilo Jimenez; Michelle D Williams; Ehab Y Hanna; Michael E Kupferman
Journal:  Head Neck Oncol       Date:  2010-09-23

8.  The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.

Authors:  Jean-Pierre Bayley; Peter Devilee; Peter E M Taschner
Journal:  BMC Med Genet       Date:  2005-11-16       Impact factor: 2.103
  8 in total
  2 in total

1.  Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families.

Authors:  Kory W Jasperson; Wendy Kohlmann; Amanda Gammon; Heidi Slack; Luke Buchmann; Jason Hunt; Anne C Kirchhoff; Henry Baskin; Akram Shaaban; Joshua D Schiffman
Journal:  Fam Cancer       Date:  2014-06       Impact factor: 2.375

2.  Imaging findings of malignant bilateral carotid body tumors: A case report and review of the literature.

Authors:  Han Lv; Xiaohong Chen; Shuai Zhou; Suping Cui; Yunlong Bai; Zhenchang Wang
Journal:  Oncol Lett       Date:  2016-02-15       Impact factor: 2.967
  2 in total

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