SDHD-related chromaffin tumours: disease localisation to genetic dysfunction
U Srirangalingam1, B Khoo, M Matson
1Department of Endocrinology, St Bartholomew's Hospital, London, UK. u.srirangalingam@qmul.ac.uk
Hormone Research in Paediatrics
|March 2, 2010
Summary
A novel succinate dehydrogenase D (SDHD) mutation was identified in a patient with multiple chromaffin tumors. Surgical removal cured the patient, highlighting the importance of genetic testing for these rare tumors.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Pheochromocytomas and paragangliomas are rare neuroendocrine tumors arising from chromaffin cells.
- Genetic mutations, particularly in succinate dehydrogenase (SDH) genes, are implicated in the development of these tumors.
- Early diagnosis and genetic screening are crucial for effective management and familial risk assessment.
Observation:
- A 15-year-old male presented with severe hypertension and elevated urinary catecholamines, initially suspected to be bilateral adrenal pheochromocytomas.
- Adrenal venous sampling confirmed a right adrenal pheochromocytoma and a distinct left abdominal paraganglioma.
- Surgical excision of both tumors resulted in a cure without the need for long-term steroid replacement.
Findings:
- Genetic analysis revealed a novel SDHD mutation (c. 169 + 1 G>A), predicted to cause loss of the 5' splice site and exon 2 exclusion.
- This mutation is considered likely pathogenic, contributing to the development of the chromaffin tumors.
- Ongoing surveillance and genetic screening of first-degree relatives are being conducted.
Implications:
- Genetic testing for SDHD mutations should be considered in all patients with chromaffin tumors.
- Adrenal venous sampling can aid in clarifying diagnostic uncertainty in complex cases.
- Multidisciplinary team involvement is essential for managing patients with complex chromaffin tumor presentations and genetic mutations.
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