Abstract
BackgroundGermline 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.MethodsThis was a retrospective evaluation of patients with HNPGL carrying SDHB germline mutations in the Netherlands.ResultsIn 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.ConclusionIf 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.
Highlights
Paragangliomas (PGLs) of the head and neck are predominantly benign hypervascular tumours that arise from neural crest cells of the autonomic nervous system
This study describes patients with head and neck paraganglioma (HNPGL) identified from a nationwide cohort of succinate dehydrogenase B (SDHB) mutation carriers
A later start for tumour screening has been proposed based on statistical models of the age-dependent penetrance of SDHB mutations and, the mean age in this cohort was relatively high, the youngest patient developed an HNPGL at age 11 years, and an 18-year-old patient had already developed PGL metastases
Summary
Paragangliomas (PGLs) of the head and neck are predominantly benign hypervascular tumours that arise from neural crest cells of the autonomic nervous system. HNPGLs are associated with extra-adrenal PGLs arising in the thorax and abdomen, predominantly along the sympathetic trunk, and with phaeochromocytomas of the adrenal gland. These extra-adrenal PGLs and phaeochromocytomas usually present with signs and symptoms of catecholamine excess[3]. 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. 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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