Familial paragangliomas
<p>Abstract</p> <p>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...
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doaj-36a2f909a02b4507b8a22aacb79a564d2020-11-25T00:20:27ZengBMCHereditary Cancer in Clinical Practice1897-42872006-10-014416917610.1186/1897-4287-4-4-169Familial paragangliomasLips CJMLentjes EGWMHöppener JWMLuijt RBMoll FL<p>Abstract</p> <p>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.</p> http://www.hccpjournal.com/content/4/4/169paragangliomas familialphaeochromocytoma familialpreventive treatmentDNA diagnosisperiodical screening |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Lips CJM Lentjes EGWM Höppener JWM Luijt RB Moll FL |
spellingShingle |
Lips CJM Lentjes EGWM Höppener JWM Luijt RB Moll FL Familial paragangliomas Hereditary Cancer in Clinical Practice paragangliomas familial phaeochromocytoma familial preventive treatment DNA diagnosis periodical screening |
author_facet |
Lips CJM Lentjes EGWM Höppener JWM Luijt RB Moll FL |
author_sort |
Lips CJM |
title |
Familial paragangliomas |
title_short |
Familial paragangliomas |
title_full |
Familial paragangliomas |
title_fullStr |
Familial paragangliomas |
title_full_unstemmed |
Familial paragangliomas |
title_sort |
familial paragangliomas |
publisher |
BMC |
series |
Hereditary Cancer in Clinical Practice |
issn |
1897-4287 |
publishDate |
2006-10-01 |
description |
<p>Abstract</p> <p>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.</p> |
topic |
paragangliomas familial phaeochromocytoma familial preventive treatment DNA diagnosis periodical screening |
url |
http://www.hccpjournal.com/content/4/4/169 |
work_keys_str_mv |
AT lipscjm familialparagangliomas AT lentjesegwm familialparagangliomas AT hoppenerjwm familialparagangliomas AT luijtrb familialparagangliomas AT mollfl familialparagangliomas |
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1725367524231479296 |