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J Neurol Surg B Skull Base 2013; 74(04): 236-240
DOI: 10.1055/s-0033-1342924
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Genetic Testing in Head and Neck Paraganglioma: Who, What, and Why?

Shankar K. Sridhara
1   Department of Otolaryngology Head & Neck Surgery, Dwight D Eisenhower Army Medical Center, Fort Gordon, Georgia, USA
,
Murat Yener
2   Department of Head and Neck Surgery, University of Texas MD Anderson Cancer Center, Houston, Texas, USA
,
Ehab Y. Hanna
2   Department of Head and Neck Surgery, University of Texas MD Anderson Cancer Center, Houston, Texas, USA
,
Thereasa Rich
3   Department of Genetics, University of Texas MD Anderson Cancer Center, Houston, Texas, USA
,
Camilo Jimenez
4   Department of Endocrinology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA
,
Michael E. Kupferman
2   Department of Head and Neck Surgery, University of Texas MD Anderson Cancer Center, Houston, Texas, USA
› Author Affiliations
Further Information

Publication History

30 October 2012

28 January 2013

Publication Date:
12 April 2013 (online)

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Abstract

Background Genetic testing in head and neck paragangliomas (HNPG) can have profound implications in patient and family counseling.

Methods Retrospective review was performed of patients with HNPG at a cancer care center from 1970 to present. Patient demographics, disease patterns, outcomes, and genetic mutations were analyzed.

Results We identified 26 patients with available genetic testing results. Sixteen had mutations. Succinate dehydrogenase gene, sub unit D (SDHD) accounted for 75% of mutations, of which P81L accounted for 75%. The remainder had SDHB mutations. Patients with mutations were younger (average age 39.5 years versus 48.4 years), 63% (versus 40%) had multiple tumors, 94% (60%) had at least one carotid body tumor, and family history was positive in 38% (20%).

Conclusion Patients suspected of heritable HNPG should undergo testing first at the SDHD and SDHB loci, and those with younger age, multiple tumors, carotid body tumors, and positive family history are more likely to have mutations.

Keywords

paraganglioma - carotid body tumor - genetic testing - mutation - succinate dehydrogenase
 

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