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Berkel, A van

Bisschop, P.

Corssmit, E.P.M.

Dooren, M.F. van

Eijkelenkamp, K.

Hensen, E.F.

Hes, F.J.

Horst-Schrivers, Anouk N. van de

Jansen, J.C.

Kunst, H.P.M.

Leemans, C.R.

Niemeijer, N.D.

Rijken, J.A.

Timmers, H.J.L.M.

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 tumour syndrome, the risk of catecholamine excess, concurrent phaeochromocytoma, and association with non-paraganglionic tumours.</p

Rijken, J. A.

Niemeijer, N. D.

Leemans, C. R.

van der Horst-Schrivers, A. N. A.

van Berkel, A.

Timmers, H. J. L. M.

Kunst, H. P. M.

Bisschop, P. H. L. T.

van Dooren, M. F.

Hes, F. J.

Jansen, J. C.

Corssmit, E. P. M.

Hensen, E. F.

Dissertations of the University of Groningen

English

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

ARTS repository - University of Groningen

Rijken, JA

Niemeijer, ND

Leemans, CR

Eijkelenkamp, K

van der Horst-Schrivers, ANA

van Berkel, A

Timmers, H

Kunst, HPM

Bisschop, P

van Dooren, Marieke

Hes, FJ

Jansen, JC (Jeroen)

Corssmit, EPM

Hensen, EF

EUR Research Repository

Diabetes mellitus: pathophysiological changes and therap

Horst-Schrivers, A.N.A. van der

Berkel, A. van

Bisschop, P.H.L.T.

Leiden University Scholary Publications

University of Groningen

Proceedings - University of Groningen

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

Abstract

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Dissertations of the University of Groningen

ARTS repository - University of Groningen

EUR Research Repository

Leiden University Scholary Publications

University of Groningen

ARTS repository - University of Groningen

EUR Research Repository

University of Groningen

Proceedings - University of Groningen

Proceedings - University of Groningen