Familial paragangliomas

Cjm Lips,Egwm Lentjes,Jwm Höppener,Fl Moll,Rb Luijt

doi:10.1186/1897-4287-4-4-169

Abstract

Paragangliomas are rare tumours of the autonomic nervous system and occur in sporadic and hereditary forms. They are usually benign and have a low mortality. However, they cause significant morbidity related to their mass effect. Genetic predisposition can occur within the familial tumour syndromes multiple endocrine neoplasia type 2 (MEN 2), von Hippel-Lindau (VHL) and neurofibromatosis type 1 (NF-1), or be due to mutations in genes specific to the development of paraganglioma only. Compared to sporadic forms, familial paragangliomas tend to present at a younger age and at multiple sites. Tumours should be diagnosed and resected as early as possible, as it has been shown that morbidity is related to tumour size. This article gives an overview of the current literature on the origin of the different forms of paragangliomas, DNA diagnosis, as well as biochemical and radiological screening guidelines.

Highlights

Paraganglia are groups of neuroendocrine cells scattered throughout the body
Genetic predisposition for paragangliomas exists in relation to the well-known tumour syndromes multiple endocrine neoplasia type 2 (MEN 2), von Hippel-Lindau (VHL) and neurofibromatosis type 1 (NF-1)
The SDHB protein is involved in head and neck male and female without genetic predisposition male and female disease gene carrier without expression male and female disease gene carrier with expression of the disease paragangliomas and in paragangliomas of the adrenal medulla [4]

Summary

Introduction

Paraganglia are groups of neuroendocrine cells scattered throughout the body. They are related to the autonomic nervous system. Tumours that develop in cells from paraganglia are called paragangliomas and are classified according to their origin and location (Fig. 1). Solitary paragangliomas, familial tumours occur at a younger age and often are multiple in origin.

Results

Conclusion