A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma.
BACKGROUND
Pheochromocytomas and paragangliomas (PHEO/PGL) are neuroendocrine tumors that arise from sympathetic and parasympathetic paraganglia. Diagnosed rarely during childhood, PHEO/PGL are nonetheless important clinical entities, particularly given our evolving understanding of their pathophysiology.


METHODS
We identified articles through the U.S. National Library of Medicine by using the search terms pheochromocytoma and paraganglioma. Results were narrowed to manuscripts that included children and studies related to the genetics of PHEO/PGL. Web-based resources for genetic disorders were also used. For all articles, we performed subsequent reference searches and verification of source data.


RESULTS
Up to 20% of PHEO/PGL are diagnosed in children. Most are functional tumors, and clinical presentation includes symptoms related to catecholamine hypersecretion and/or tumor mass effect. Increasingly, PHEO/PGL are identified during presymptomatic screening in children with genetic syndromes associated with PHEO/PGL (multiple endocrine neoplasia type 2, von Hippel-Lindau disease, and the paraganglioma syndromes). Plasma and/or urine metanephrines are the best diagnostic test for a functional tumor, and the management of pediatric patients is similar to adults. Genetic counseling should be undertaken in all cases. Although most pediatric PHEO/PGL are benign, these tumors can occasionally metastasize, a condition for which no curative treatment exists.


CONCLUSIONS
Although PHEO/PGL are rarely diagnosed during childhood, the pediatric provider should be able to recognize and screen for such tumors, particularly in the context of a known genetic predisposition. Optimal care of these children includes a multidisciplinary team approach at centers experienced in the evaluation and treatment of these uncommon yet fascinating endocrine neoplasms.
Waguespack
S G
SG
Department of Endocrine Neoplasia and Hormonal Disorders, The Children's Cancer Hospital, University of Texas M. D. Anderson Cancer Center, PO Box 301402, Unit 1461, Houston, Texas 77230-1402, USA. swagues@mdanderson.org
Rich
T
T
Grubbs
E
E
Ying
A K
AK
Perrier
N D
ND
Ayala-Ramirez
M
M
Jimenez
C
C
D002648:Child; D004298:Dopamine / Q000378:metabolism; D005817:Genetic Counseling; D006801:Humans; D020125:Mutation, Missense; D010235:Paraganglioma / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D010673:Pheochromocytoma / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D011859:Radiography; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics
D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human; D004298:Dopamine