Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing
Introduction: Sympathetic paragangliomas (PGLs) are rare neuroendocrine tumours originating from chromaffin cells, primarily in the thorax, abdomen, and pelvis. Paediatric PGLs are particularly uncommon, but they represent a notable cause of secondary hypertension in children. These...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2025-01-01
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| Series: | Case Reports in Oncology |
| Online Access: | https://karger.com/article/doi/10.1159/000543615 |
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| author | Jia Ling Ong Diluka Pinto Reshma Rajeev Rajeev Parameswaran |
| author_facet | Jia Ling Ong Diluka Pinto Reshma Rajeev Rajeev Parameswaran |
| author_sort | Jia Ling Ong |
| collection | DOAJ |
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Introduction:
Sympathetic paragangliomas (PGLs) are rare neuroendocrine tumours originating from chromaffin cells, primarily in the thorax, abdomen, and pelvis. Paediatric PGLs are particularly uncommon, but they represent a notable cause of secondary hypertension in children. These tumours frequently have a genetic basis, with up to 40% of patients carrying germline mutations, including variants of unknown significance (VUS), which present diagnostic and management challenges.
Case Presentation:
In this case report, we describe a 10-year-old male who presented with seizures and hypertensive crisis, later diagnosed with a functional PGL. Biochemical tests confirmed elevated catecholamines, and imaging revealed a 3 cm para-aortic tumour. Genetic testing identified a heterozygous mutation in the FH gene classified as VUS. Surgical resection of the tumour was curative, with no recurrence after 2 years of follow-up.
Conclusion:
This case underscores the complexities of interpreting VUS in paediatric PGL and highlights the need for long-term follow-up and further research into the clinical significance of these genetic findings.
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| format | Article |
| id | doaj-art-ffa78180b4114bada5ce254c1baef431 |
| institution | DOAJ |
| issn | 1662-6575 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Oncology |
| spelling | doaj-art-ffa78180b4114bada5ce254c1baef4312025-08-20T03:09:47ZengKarger PublishersCase Reports in Oncology1662-65752025-01-0118125526110.1159/000543615Paediatric Paraganglioma with Variant of Unknown Significance on Genetic TestingJia Ling OngDiluka PintoReshma RajeevRajeev Parameswaranhttps://orcid.org/0000-0002-3318-0357 Introduction: Sympathetic paragangliomas (PGLs) are rare neuroendocrine tumours originating from chromaffin cells, primarily in the thorax, abdomen, and pelvis. Paediatric PGLs are particularly uncommon, but they represent a notable cause of secondary hypertension in children. These tumours frequently have a genetic basis, with up to 40% of patients carrying germline mutations, including variants of unknown significance (VUS), which present diagnostic and management challenges. Case Presentation: In this case report, we describe a 10-year-old male who presented with seizures and hypertensive crisis, later diagnosed with a functional PGL. Biochemical tests confirmed elevated catecholamines, and imaging revealed a 3 cm para-aortic tumour. Genetic testing identified a heterozygous mutation in the FH gene classified as VUS. Surgical resection of the tumour was curative, with no recurrence after 2 years of follow-up. Conclusion: This case underscores the complexities of interpreting VUS in paediatric PGL and highlights the need for long-term follow-up and further research into the clinical significance of these genetic findings. https://karger.com/article/doi/10.1159/000543615 |
| spellingShingle | Jia Ling Ong Diluka Pinto Reshma Rajeev Rajeev Parameswaran Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing Case Reports in Oncology |
| title | Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing |
| title_full | Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing |
| title_fullStr | Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing |
| title_full_unstemmed | Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing |
| title_short | Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing |
| title_sort | paediatric paraganglioma with variant of unknown significance on genetic testing |
| url | https://karger.com/article/doi/10.1159/000543615 |
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