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

Shankar K. Sridhara; Murat Yener; Ehab Y. Hanna; Thereasa Rich; Camilo Jimenez; Michael E. Kupferman

doi:10.1055/s-0033-1342924

Journal of Neurological Surgery Part B: Skull Base, Table of Contents

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

¹Department of Otolaryngology Head & Neck Surgery, Dwight D Eisenhower Army Medical Center, Fort Gordon, Georgia, USA

,

Murat Yener

²Department of Head and Neck Surgery, University of Texas MD Anderson Cancer Center, Houston, Texas, USA

,

Ehab Y. Hanna

²Department of Head and Neck Surgery, University of Texas MD Anderson Cancer Center, Houston, Texas, USA

,

Thereasa Rich

³Department of Genetics, University of Texas MD Anderson Cancer Center, Houston, Texas, USA

,

Camilo Jimenez

⁴Department of Endocrinology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA

,

Michael E. Kupferman

²Department of Head and Neck Surgery, University of Texas MD Anderson Cancer Center, Houston, Texas, USA

› Author Affiliations

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

Full Text

References

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