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Familial carotid body tumours: is there a role for genetic screening?

Published online by Cambridge University Press:  19 July 2007

P Jani ,
A A Qureshi ,
S Verma  and
L Walker
P Jani
Affiliation:
Departments of Otolaryngology and Medical Genetics, Addenbrooke's Hospital, Cambridge, UK
A A Qureshi*
Affiliation:
Departments of Otolaryngology and Medical Genetics, Addenbrooke's Hospital, Cambridge, UK
S Verma
Affiliation:
Departments of Otolaryngology and Medical Genetics, Addenbrooke's Hospital, Cambridge, UK
L Walker
Affiliation:
Departments of Otolaryngology and Medical Genetics, Addenbrooke's Hospital, Cambridge, UK
*
Address for correspondence: Mr A Qureshi, Clinic 10, Box 48, Department of Otolaryngology, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, UK. Fax: 01223 217559 E-mail: aa_qur@yahoo.co.uk
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Abstract

Objective:

Carotid body tumours are rare lesions which are familial in 10 per cent of cases. In this paper, we demonstrate the clinical applicability of predictive genetic testing for familial carotid body tumours.

Methods:

We report a case manifesting with multiple carotid body tumours, in which subsequent genetic testing demonstrated a germline mutation which could be traced across generations. We review the diagnosis and management of carotid body tumours in the familial setting, together with the strategies presently available to screen individuals from susceptible families.

Conclusions:

The recent advent of a predictive genetic test for familial carotid body tumours offers a novel means of pre-selecting those at risk, so as to minimise screening costs and patient morbidity. Early diagnosis of lesions is essential to allow early intervention, reducing surgical morbidity and progression to malignancy.

Keywords

Carotid Body TumoursParagangliomasScreening
Type
Clinical Record
Information
The Journal of Laryngology & Otology , Volume 122 , Issue 9 , September 2008 , pp. 978 - 982
Copyright
Copyright © JLO (1984) Limited 2007

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