Childhood phaeochromocytoma and paraganglioma: 100% incidence of genetic mutations and 100% survival.
BACKGROUND
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.
Department of Paediatric Surgery, The Royal Hospital for Sick Children, Yorkhill, G3 8SJ Glasgow, United Kingdom.
Philip J
PJ
Hammond
Dermot
D
Murphy
Robert
R
Carachi
D Fraser
DF
Davidson
Diana
D
McIntosh
D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000235:genetics* / Q000601:surgery; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D008137:Longitudinal Studies; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000235:genetics / Q000601:surgery; D009154:Mutation / Q000235:genetics*; D016609:Neoplasms, Second Primary / Q000453:epidemiology / Q000235:genetics; D010235:Paraganglioma / Q000235:genetics* / Q000601:surgery; D010673:Pheochromocytoma / Q000235:genetics* / Q000601:surgery; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D012189:Retrospective Studies; D012307:Risk Factors; D013385:Succinate Dehydrogenase / Q000235:genetics; D013577:Syndrome; D006623:von Hippel-Lindau Disease / Q000235:genetics / Q000601:surgery
D013385:Succinate Dehydrogenase; D051096:Proto-Oncogene Proteins c-ret