Childhood phaeochromocytoma and paraganglioma: 100% incidence of genetic mutations and 100% survival

Hammond, P. J., Murphy, D., Carachi, R., Davidson, D. F. and McIntosh, D. (2010) Childhood phaeochromocytoma and paraganglioma: 100% incidence of genetic mutations and 100% survival. In: 56th Annual Congress of the British-Association-of-Paediatric-Surgeons, Graz, Austria, 18-20 June 2009, pp. 383-386. (doi: 10.1016/j.jpedsurg.2009.10.082)

Abstract

Introduction: The aim is to identify the incidence of genetic mutations and outcome of children presenting with phaeochromocytoma/paraganglioma (PGL) to a single paediatric surgical service to determine the need for genetic counselling in associated kindreds. Methods: A retrospective case note review was undertaken of all cases treated between 1998 and 2008 with particular reference to presentation, management, and predisposing genetic conditions. Results: Seven cases (4 male, 3 female) were identified (median age, 13 years; interquartile range, 916). Three cases had a family history of phaeochromocytoma/PGL. All presented with neurologic symptoms related to hypertension, including headaches (n = 5), hemiparesis (n = 2), facial palsy, and hemianopia. All underwent surgical resection. Five patients had meta-iodobenzylguanidine (MIBG) therapy for apparently malignant features. All cases were found to have a predisposing genetic mutation: von Hippel-Lindau (n = 3), succinate dehydrogenase mutations (n = 3), and multiple endocrine neoplasia (n = 1). All patients are alive after a median follow-up of 5 (interquartile range, 2-7) years. Conclusions: All 7 cases had a familial genetic mutation identified, and none arose de novo. We advocate genetic counselling for all families of children diagnosed with phaeochromocytoma/PGL with lifelong surveillance tailored to the underlying syndrome because of the increased risk of synchronous and metachronous tumours associated with these genetic syndromes.

• Item Type: Conference Proceedings
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Carachi, Professor Robert
• Authors: Hammond, P. J., Murphy, D., Carachi, R., Davidson, D. F., and McIntosh, D.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing > Clinical Specialities
• Journal Name: Journal of Pediatric Surgery
• ISSN: 00223468