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Hereditary paragangliomas : clinical characteristics and genotype- phenotype associations

Havekes, B.

Citation

Havekes, B. (2008, December 11). Hereditary paragangliomas : clinical characteristics and genotype-phenotype associations. Retrieved from https://hdl.handle.net/1887/13397

Version: Corrected Publisher’s Version

License: Licence agreement concerning inclusion of doctoral thesis in the Institutional Repository of the University of Leiden

Downloaded from: https://hdl.handle.net/1887/13397

Note: To cite this publication please use the final published version (if applicable).

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Hereditary Paragangliomas

Clinical characteristics and genotype-phenotype associations

B. Havekes

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ISBN 978-90-8559-459-8

Image on cover: 18F-fluorodopamine Positron Emission Tomography image from patient with mediastinal paraganglioma associated with SDHD mutation (patient 8, chapter 6 of this thesis).

Print: Optima Grafische Communicatie, Rotterdam

Publication of this thesis was supported by: Ferring B.V. (Hoofddorp), Ipsen Farmaceutica B.V. (Hoofddorp), Pfizer B.V. (Capelle aan den Ijssel), Merck Sharp &

Dohme B.V. (Haarlem), Servier Nederland Farma B.V. (Leiden), Novartis Pharma B.V.

(Arnhem), Novo Nordisk Farma B.V. (Alphen aan den Rijn), AstraZeneca B.V.

(Zoetermeer), Schoonenberg Hoorcomfort B.V. (Dordrecht).

© 2008 B. Havekes

All rights reserved. No part of this thesis may be reproduced or transmitted in any form, by any means, electronic or mechanical, without the prior permission of the author, or where appropriate, of the publisher of the articles.

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Hereditary Paragangliomas

Clinical characteristics and genotype-phenotype associations

PROEFSCHRIFT

ter verkrijging van

de graad van Doctor aan de Universiteit Leiden,

op gezag van Rector Magnificus prof. mr. P.F. van der Heijden, volgens het besluit van het College voor Promoties

te verdedigen op donderdag 11 december 2008 klokke 16.15 uur

door

Bastiaan Havekes

geboren te Utrecht in 1976

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Promotiecommissie

Promotores: Prof. dr. J.A. Romijn Prof. dr. J.W.A. Smit

Copromotor: Dr. E.P.M. van der Kleij-Corssmit

Referent: Prof. dr. J.W.M. Lenders, Universitair Medisch Centrum St.

Radboud, Nijmegen

Overige leden: Prof. dr. N.C. Schaper, Academisch Ziekenhuis Maastricht Prof. dr. J.H. Bolk

Prof. dr. A.E. Meinders

Prof. dr. H. Pijl

Dr. J.C. Jansen

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Contents

Chapter 1. General introduction 7

Chapter 2. Reduced quality of life in patients with head-and-neck paragangliomas

31

Chapter 3. Head-and-neck paragangliomas are associated with sleep related complaints, especially in the presence of carotid body tumors

47

Chapter 4. High prevalence of pheochromocytomas and extra-adrenal

paragangliomas detected by screening for catecholamine excess in patients with SDHD-associated head-and-neck paragangliomas

63

Chapter 5. Malignant paragangliomas associated with mutations in the succinate dehydrogenase D gene

81

Chapter 6. Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior

93

Chapter 7. Detection and treatment of pheochromocytomas and

paragangliomas: current standing of MIBG scintigraphy and future role of PET imaging

109

Chapter 8. General discussion and summary 131

Chapter 9. Discussie en samenvatting 149

Previous dissertations regarding paragangliomas, Leiden 169

Curriculum Vitae 171

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