SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers
Head and neck paragangliomas are slow growing and highly vascular neuroendocrine tumors. It is currently assumed that SDHAF2 variants exclusively cause benign and often multicentric head and neck paragangliomas. Here, we present a patient diagnosed with multiple SDHAF2-linked head and neck paragangl...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Otolaryngology |
| Online Access: | http://dx.doi.org/10.1155/2024/2111531 |
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| author | Monique A. M. de Jong Eleonora P. M. Corssmit Jeroen C. Jansen Thomas P. Potjer Jean-Pierre L. Bayley Erik F. Hensen |
| author_facet | Monique A. M. de Jong Eleonora P. M. Corssmit Jeroen C. Jansen Thomas P. Potjer Jean-Pierre L. Bayley Erik F. Hensen |
| author_sort | Monique A. M. de Jong |
| collection | DOAJ |
| description | Head and neck paragangliomas are slow growing and highly vascular neuroendocrine tumors. It is currently assumed that SDHAF2 variants exclusively cause benign and often multicentric head and neck paragangliomas. Here, we present a patient diagnosed with multiple SDHAF2-linked head and neck paragangliomas who in addition developed paraganglioma metastases to the lung and spine and a primary or metastatic paraganglioma in the head of the pancreas. During the course of the disease, a range of management strategies were deployed for the different head and neck tumors, including total resections, partial resections, and active surveillance. After identification of the paraganglioma metastases, the patient was treated with lanreotide after which the disease remained stable during the 27 months of follow-up. |
| format | Article |
| id | doaj-art-c340520502634510a385d32b1333df7f |
| institution | Kabale University |
| issn | 2090-6773 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Otolaryngology |
| spelling | doaj-art-c340520502634510a385d32b1333df7f2025-02-03T01:29:36ZengWileyCase Reports in Otolaryngology2090-67732024-01-01202410.1155/2024/2111531SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant CarriersMonique A. M. de Jong0Eleonora P. M. Corssmit1Jeroen C. Jansen2Thomas P. Potjer3Jean-Pierre L. Bayley4Erik F. Hensen5Department of Otorhinolaryngology and Head and Neck SurgeryDepartment of Endocrinology and Metabolic DiseasesDepartment of Otorhinolaryngology and Head and Neck SurgeryDepartment of Clinical GeneticsDepartment of Human GeneticsDepartment of Otorhinolaryngology and Head and Neck SurgeryHead and neck paragangliomas are slow growing and highly vascular neuroendocrine tumors. It is currently assumed that SDHAF2 variants exclusively cause benign and often multicentric head and neck paragangliomas. Here, we present a patient diagnosed with multiple SDHAF2-linked head and neck paragangliomas who in addition developed paraganglioma metastases to the lung and spine and a primary or metastatic paraganglioma in the head of the pancreas. During the course of the disease, a range of management strategies were deployed for the different head and neck tumors, including total resections, partial resections, and active surveillance. After identification of the paraganglioma metastases, the patient was treated with lanreotide after which the disease remained stable during the 27 months of follow-up.http://dx.doi.org/10.1155/2024/2111531 |
| spellingShingle | Monique A. M. de Jong Eleonora P. M. Corssmit Jeroen C. Jansen Thomas P. Potjer Jean-Pierre L. Bayley Erik F. Hensen SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers Case Reports in Otolaryngology |
| title | SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers |
| title_full | SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers |
| title_fullStr | SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers |
| title_full_unstemmed | SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers |
| title_short | SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers |
| title_sort | sdhaf2 linked metastatic paraganglioma a case report with implications for counseling and follow up of pathogenic sdhaf2 variant carriers |
| url | http://dx.doi.org/10.1155/2024/2111531 |
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