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.
Hammond
Philip J
PJ
Department of Paediatric Surgery, The Royal Hospital for Sick Children, Yorkhill, G3 8SJ Glasgow, United Kingdom.
Murphy
Dermot
D
Carachi
Robert
R
Davidson
D Fraser
DF
McIntosh
Diana
D
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