Premium
Systematic screening and treatment evaluation of hereditary neck paragangliomas
Author(s) -
Fish John H.,
KleinWeigel Peter,
Biebl Matthias,
Janecke Andreas,
Tauscher Thomas,
Fraedrich Gustav
Publication year - 2007
Publication title -
head and neck
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.012
H-Index - 127
eISSN - 1097-0347
pISSN - 1043-3074
DOI - 10.1002/hed.20638
Subject(s) - sdhd , medicine , head and neck , germline mutation , curative treatment , germline , radiology , surgery , mutation , disease , chemistry , gene , biochemistry
Familial paragangliomas of the neck are often bilateral and more aggressive than spontaneous forms. Tumors appear earlier (2nd–4th decade) often with diffuse, multifocal involvement. Without treatment, these tumors can lead to significant morbidity. Three families with succinate dehydrogenase subunit D (SDHD) germline mutations underwent clinical and genetic evaluation. Patients were screened using ultrasound and evaluated further with conventional and functional imaging. Tumors with a diameter >1.5 cm were surgically removed. Multicentric and bilateral tumors were detected in 9/13 (69%) and 8/13 (62%) patients, respectively. Surgical morbidity occurred in 64% of patients. Local recurrence was 57%, although this was lower in tumors with a diameter <2 cm. We recommend an algorithm for a systematic approach to the diagnosis, monitoring, and treatment of familial head and neck paragangliomas. Operative treatment in advanced stages often leads to unwanted morbidity, such that earlier detection and treatment of smaller tumors seems to be of benefit. © 2007 Wiley Periodicals, Inc. Head Neck 2007