Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing

Area of Science:

• Pediatric Endocrinology
• Oncology
• Genetics

Background:

• Sympathetic paragangliomas (PGLs) are rare neuroendocrine tumors originating from chromaffin cells.
• Pediatric PGLs are uncommon but a significant cause of secondary hypertension in children.
• Germline mutations, including variants of unknown significance (VUS), are found in up to 40% of PGL patients, posing diagnostic challenges.

Observation:

• A 10-year-old male presented with seizures and hypertensive crisis.
• Diagnostic workup revealed a functional PGL with elevated catecholamines and a para-aortic tumor.
• Genetic analysis identified a heterozygous FH gene mutation classified as VUS.

Findings:

• Surgical resection of the paraganglioma was curative.
• The patient showed no recurrence after a 2-year follow-up period.
• The case highlights the diagnostic and management complexities associated with VUS in pediatric PGL.

Implications:

• Interpreting VUS in pediatric PGL requires careful consideration and long-term patient monitoring.
• Further research is needed to elucidate the clinical significance of VUS in paraganglioma development.
• This case emphasizes the importance of genetic testing and multidisciplinary management for pediatric PGL.