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

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, 9-16). 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.

• Authors: Philip J Hammond, Dermot Murphy, Robert Carachi, D Fraser Davidson, Diana McIntosh
• Journal: Journal of pediatric surgery (J Pediatr Surg) Vol. 45 Issue 2 Pg. 383-6 (Feb 2010) ISSN: 1531-5037 [Electronic] United States
• PMID: 20152357 (Publication Type: Journal Article)
• Copyright: Copyright 2010 Elsevier Inc. All rights reserved.

Chemical References

• Succinate Dehydrogenase
• Proto-Oncogene Proteins c-ret

Topics

• Adolescent
• Adrenal Gland Neoplasms (genetics, surgery)
• Child
• Female
• Follow-Up Studies
• Genetic Counseling
• Genetic Predisposition to Disease
• Humans
• Incidence
• Longitudinal Studies
• Male
• Multiple Endocrine Neoplasia (genetics, surgery)
• Mutation (genetics)
• Neoplasms, Second Primary (epidemiology, genetics)
• Paraganglioma (genetics, surgery)
• Pheochromocytoma (genetics, surgery)
• Proto-Oncogene Proteins c-ret (genetics)
• Retrospective Studies
• Risk Factors
• Succinate Dehydrogenase (genetics)
• Syndrome
• von Hippel-Lindau Disease (genetics, surgery)