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Phaeochromocytoma in children
R Armstrong1, M Sridhar, K L Greenhalgh
1Department of Clinical Genetics, Royal Liverpool Children's Hospital, Alder Hey, Liverpool, UK. ruth.armstrong@lwh.nhs.uk
Archives of Disease in Childhood
|May 24, 2008
Summary
Germline mutations are common in pediatric phaeochromocytoma, even in sporadic cases. Genetic testing is crucial for identifying inherited predispositions in affected children.
Area of Science:
- Pediatric Endocrinology
- Oncology
- Genetics
Background:
- Phaeochromocytoma is a rare tumor in children.
- Previously, only 10% of cases were considered familial.
- Recent findings indicate a higher prevalence of inherited genetic factors.
Purpose of the Study:
- To review the etiology, investigation, management, and genetics of pediatric phaeochromocytoma.
- To highlight the significant role of germline mutations in childhood phaeochromocytoma.
- To provide guidance for genetic counseling and family screening.
Main Methods:
- Review of existing literature on pediatric phaeochromocytoma.
- Analysis of genetic mutation data in young patients.
- Synthesis of information on clinical presentation and management strategies.
Main Results:
- Germline mutations are found in up to 59% of pediatric phaeochromocytomas, including apparently sporadic cases.
- The Von Hippel-Lindau gene is the most frequent mutation identified in this population.
- Other associated genes include those for succinate dehydrogenase, RET proto-oncogene, and neurofibromatosis type 1.
Conclusions:
- Pediatric phaeochromocytoma frequently has an inherited genetic basis.
- Genetic testing and counseling are essential for diagnosis and family management.
- Early identification of genetic predisposition can guide treatment and surveillance.
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