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BJS Open. 2018 Feb 6;2(2):62-69. doi: 10.1002/bjs5.39. eCollection 2018 Apr.

Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations.

Author information

1
Department of Otorhinolaryngology/Head and Neck Surgery VU University Medical Centre Amsterdam The Netherlands.
2
Department of Endocrinology and Metabolic Diseases Leiden University Medical Centre Leiden The Netherlands.
3
Department of Endocrinology, University of Groningen University Medical Centre Groningen Groningen The Netherlands.
4
Division of Endocrinology, Department of Internal Medicine Radboud University Medical Centre Nijmegen The Netherlands.
5
Department of Otorhinolaryngology/Head and Neck Surgery Radboud University Medical Centre Nijmegen The Netherlands.
6
Department of Endocrinology and Metabolism, Academic Medical Centre University of Amsterdam Amsterdam The Netherlands.
7
Department of Clinical Genetics, Erasmus MC University Medical Centre Rotterdam Rotterdam The Netherlands.
8
Department of Clinical Genetics Leiden University Medical Centre Leiden The Netherlands.
9
Otorhinolaryngology/Head and Neck Surgery Leiden University Medical Centre Leiden The Netherlands.

Abstract

Background:

Germline mutations in the succinate dehydrogenase B (SDHB) gene predispose to hereditary paraganglioma (PGL) syndrome type 4. The aim of this study was to evaluate the clinical characteristics and outcome of treatment strategies for patients with head and neck paraganglioma (HNPGL) carrying SDHB germline mutations.

Methods:

This was a retrospective evaluation of patients with HNPGL carrying SDHB germline mutations in the Netherlands.

Results:

In a Dutch nationwide cohort study of SDHB germline mutation carriers, 54 patients with a total of 62 HNPGLs were identified. Forty-one of 54 patients (76 per cent) visited the outpatient clinic because of associated complaints. Eight patients (15 per cent) had multiple PGLs. One patient (2 per cent) developed a phaeochromocytoma and three (6 per cent) developed a malignant PGL. Twenty-seven patients (50 per cent) had an operation for their HNPGL and 15 (28 per cent) received radiotherapy. Three patients with HNPGL (6 per cent) were diagnosed with additional non-paraganglionic tumours.

Conclusion:

If an SDHB germline mutation is identified in a patient with HNPGL, the clinician should be aware of the variable manifestations of the SDHB-linked tumour syndrome, the risk of catecholamine excess, concurrent phaeochromocytoma, and association with non-paraganglionic tumours.

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