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VU Research Portal VU Research Portal SDHB-linked Paraganglioma Rijken, J.A. 2020 document version Publisher's PDF, also known as Version of record Link to publication in VU Research Portal citation for published version (APA) Rijken, J. A. (2020). SDHB-linked Paraganglioma. General rights Copyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights. • Users may download and print one copy of any publication from the public portal for the purpose of private study or research. • You may not further distribute the material or use it for any profit-making activity or commercial gain • You may freely distribute the URL identifying the publication in the public portal ? Take down policy If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim. E-mail address: [email protected] Download date: 08. Oct. 2021 SDHB-linked Paraganglioma COLOPHON SDHB-linked Paraganglioma Cover drawing: Johannes Rijken Cover layout: Rachel van Esschoten, DivingDuck Design, (www.divingduckdesign.nl) Lay-out inside: Rachel van Esschoten, DivingDuck Design Printed by: Ipskamp Printing, Enschede (www.ipskampprinting.nl) Anatomical drawings: Bourgery, Paris 1831-1844, Library University of Heidelberg. ISBN: 978-94-028-1905-2 The publication of this thesis was financially supported by: ALK, Allergy Therapeutics, DOS Medical BV, Rhino Horn Benelux BV, Specsavers International Healthcare BV. VRIJE UNIVERSITEIT SDHB-linked PARAGANGLIOMA ACADEMISCH PROEFSCHRIFT ter verkrijging van de graad Doctor aan de Vrije Universiteit Amsterdam, op gezag van de rector magnificus prof.dr. V. Subramaniam, in het openbaar te verdedigen ten overstaan van de promotiecommissie van de Faculteit der Geneeskunde op vrijdag 6 maart 2020 om 13.45 uur in de aula van de universiteit, De Boelelaan 1105 door Johannes Adriaan Rijken geboren te Veenendaal 4 and as ye would that men should do to you, do ye also to them likewise. Luke 6:31 King James Version 5 voor mijn ouders Promotiecommissie promotor: prof.dr. C.R. Leemans copromotor: dr. E.F. Hensen 6 CONTENTS 1 General introduction 9 1.1 The paraganglion system 10 1.2 Paragangliomas 12 1.3 Genetics of paragangliomas 31 1.4 Penetrance 35 1.5 Outline of the thesis 38 1.6 Abbreviations 39 1.7 References 40 7 2 Evolving management strategies in head and neck paragangliomas: 53 A single-centre experience with 147 patients over a 60-year period Clin Otolaryngol. 2019;44:836-841. 3 A novel succinate dehydrogenase subunit B germline variant associated 65 with head and neck paraganglioma in a Dutch kindred: A family-based study Clin Otolaryngol. 2018;43:841-845. 4 Low penetrance of paraganglioma and pheochromocytoma in an extended 79 kindred with a germline SDHB exon 3 deletion Clin Genet. 2016;89:128-132. 5 The phenotype of SDHB germline mutation carriers: a nationwide study 91 Eur J Endocrinol. 2017;177:115-125. 6 Nationwide study of head and neck paraganglioma patients carrying 111 SDHB germline mutations BJS Open. 2018;2:62-69. 7 The penetrance of paraganglioma and pheochromocytoma in SDHB 127 germline mutation carriers Clin Genet. 2018;93:60-66. 8 Increased mortality in SDHB but not in SDHD pathogenic variant carriers 145 Cancers (Basel). 2019 Jan 17;11. 9 Summary and conclusion 161 9.1 Summary 162 9.2 Conclusion 165 9.3 Future perspectives 166 10 Addendum 169 10.1 Samenvatting en conclusie 170 10.2 List of publications 177 10.3 Curriculum Vitae 181 10.4 Dankwoord 182 1 General introduction 1.1 THE PARAGANGLION SYSTEM Paraganglia are anatomically widely distributed cell clusters of neuroectodermal origin that are associated with the autonomous nervous system. The paraganglion system consists of the adrenal medulla, the largest paraganglion in the human body, the sympathetic paraganglia, and the parasympathetic paraganglia[1]. The sympathetic paraganglia are associated with the ganglia of the paravertebral sym- pathetic trunk, the organ of Zuckerkandl, and the celiac, renal, suprarenal and hypogastric plexuses (figure 1.1 left). The parasympathetic paraganglia consist of the intravagal bodies and the branchiomeric paraganglia in the mediastinum and Chapter 1 Chapter head and neck region, most notably located in the carotid bifurcation, the jugular foramen and on the promontory of the middle ear (figure 1.1 right). 10 Figure 1.1 The paraganglion system. Drawings show the anatomic distribution of healthy extra-adrenal paraganglia connected with the sympathetic system (left) and parasympathetic system (right). APP = aorticopulmonary paraganglia, CBP = carotid body paraganglion, JTP = jug- ulotympanic paraganglia (located in the jugular foramen and on the promontory of the middle ear), VP = vagal paraganglia. Adapted from: Lee et al. Am. J. Roent- genol. 2006;187:492-504. The exact function of the paraganglion system is not fully known. The adrenal medulla, the inner part of the adrenal gland, produces the catecholamines epi- nephrine, norepinephrine, and dopamine. These hormones regulate heart rate, blood pressure, metabolism, and cause vasoconstriction and bronchial dilatation. The organs of Zuckerkandl are thought to be important regulators of the embry- onic homeostasis and blood pressure through the production and release of cat- echolamines during early gestation, and they normally start to regress in the third trimester[2]. Kohn recognized the similarity between sympathetic paraganglia and the carotid body[3]. The carotid body is the best-studied head and neck paraganglion, which introduction General is visible macroscopically as a flattened rice grain-shaped organ. This paraganglion 11 is situated medially in the adventitial plane of the carotid bifurcation and a fibro- vascular pedicle (Mayer’s ligament) may be seen carrying the small glomic arteries and myelinated nerve bundles. Microscopically, the carotid body is composed of multiple ovoid lobules separated by fibrous septa that contain abundant myelinat- ed nerve fibers and small arteries that supply the individual lobules. Each lobule is organized in several nests of parenchymal chief cells (type I cells) interspersed with stroma that contains nerve endings, small arterioles and venules. At the pe- riphery of the cell nests a second cell type, the sustentacular cell (type II cell), is present that is believed to have supportive function. Type II cells are extremely rare in paraganglia, other than at the carotid bifurcation[4]. The typical nested architecture of chief cells and sustentacular cells, surrounded by a highly vascular stroma, is a prominent feature of branchiomeric paraganglia and is termed ‘Zell- ballen’ (figure 1.2)[5]. The ability of paraganglia to synthesize, store and secrete catecholamines (epi- nephrine, norepinephrine, and dopamine) is reflected by a positive chromaffin reaction of chromates with these compounds if present in sufficient quantity. The reaction can be seen with a light microscope and paraganglionic tissue is often said to be chromaffin, which is not always the case[6]. The carotid and aortic bodies function as peripheral chemoreceptors sensitive to changes in arterial oxygen levels and, to a lesser degree also to carbon dioxide levels and arterial pH. Arterial hypoxia, hypercapnia and acidosis cause excitation of the paraganglionic type I cells. This signal is relayed by the afferent fibers of the glossopharyngeal and vagal nerves to the central cardiorespiratory centers in the medulla oblongata, which regulate cardiac output and respiration[7]. Chapter 1 Chapter 12 Figure 1.2 Microscopy of paraganglioma tissue showing the type I and type II cells in the classic Zellballen configuration. This characteristic architecture is usually preserved in the progression from normal paraganglion tissue to paraganglioma. Left = overview of hematoxylin and eosin (H-E) stained section of paraganglioma tissue. Right = immunohistochemical staining with positivity for S-100 protein shows the typical nested archi- tecture of chief cells and sustentacular cells, surrounded by a highly vascular stroma, termed ‘Zellballen’ (indicated by arrows). 1.2 PARAGANGLIOMAS Neoplastic transformation of paraganglia results in the development of paragan- gliomas (PGLs). PGLs are hypervascular tumors that can arise in the various loca- tions of the paraganglion system. They are usually benign, slow growing, and the majority (circa 90%) of tumors occur in the adrenal paraganglia, so-called pheo- chromocytomas (PCCs). PGLs are divided into two groups: one originating from the parasympathetic system and one from the sympathetic system. Parasympa- thetic PGL are primarily located in the head and neck region and less frequently in the thorax, abdomen and/or pelvis. PCCs and sympathetic PGLs (sPGLs) are tumors arising from neural crest tissue that develops into paraganglia throughout the body. Approximately 85% of sPGL occur in the abdomen, 12% in the thorax, and 3% in the head and neck[8]. Head and neck paragangliomas Epidemiology Head and neck paragangliomas (HNPGLs) are rare neoplasms. Estimates of the clinical incidence vary between 1/1.000.000 and 1/100.000[9-11]. These figures may represent an underestimation because of the often asymptomatic and clini- cally favorable nature of PGLs. Necroscopy rates for carotid body PGLs of 1:13.400 to 1:3.860 point towards a higher incidence,
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