ELECTRONIC LETTER

Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes

C Bauters¹, M-C Vantyghem¹, E Leteurtre², M-F Odou³, C Mouton^3,5, N Porchet³, J-L Wemeau¹, C Proye⁴, P Pigny^3,5

¹ Clinique Endocrinologique Marc Linquette, Centre Hospitalier Régional Universitaire de Lille, France
² Service d’Anatomie Pathologique, Faculté de médecine, pôle Recherche, Centre Hospitalier Régional Universitaire de Lille, France
³ Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital Claude Huriez, Centre Hospitalier Régional Universitaire de Lille, France
⁴ Service de Chirurgie Générale et Endocrinienne, Hôpital Claude Huriez, Centre Hospitalier Régional Universitaire de Lille, France
⁵ Laboratoire de Biochimie Endocrinologique, Clinique Marc Linquette, Centre Hospitalier Régional Universitaire de Lille, France

Correspondence to:
Correspondance to:
Dr P Pigny, Laboratoire de Biochimie Endocrinologique, Clinique Marc Linquette, F 59037 Lille Cedex, France;
p-pigny@chru-lille.fr

Keywords: phaeochromocytoma; paraganglioma; familial tumours; susceptibility genes

Abbreviations: CT, computed tomography; MEN 2, multiple endocrine neoplasia type 2; NF1, neurofibromatosis type 1; PCR, polymerase chain reaction; Pgl, paraganglioma; Phaeo, phaeochromocytoma; SDHB, iron sulphur protein subunit of succinate dehydrogenase; SDHC, large subunit of cytochrome b; SDHD, small subunit of cytochrome b; VHL, von Hippel- Lindau disease

The first 150 words of the full text of this article appear below.

Non-functioning paragangliomas (Pgls), also called chemodectomas, glomus tumours, or non-chromaffin Pgls, are rare, highly vascularised tumours, originating from neural crest derived chief cells of paraganglia in the head and neck region. The main affected sites are the carotid body, a small chemoreceptive organ that senses blood oxygen level, and the jugulotympanic paraganglia. These tumours are typically slow growing and benign but local invasion and distant metastases can occur. Most of the tumours present without causing specific symptoms. Rarely, chemodectomas can secrete catecholamines. Therefore these tumours are diagnosed late on in development when their growth causes symptoms such as dysphagia, bradycardia, or hearing loss. Most chemodectomas occur sporadically whereas 10% to 50% could correspond to familial forms inherited as an autosomal dominant trait with incomplete penetrance. For one susceptibility locus named Pgl1, the tumours are transmitted through the paternal line, a fact suggestive of genomic imprinting.¹ Recently, patients with hereditary chemodectomas . . . [Full text of this article]

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