Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors
Introduction. Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and from the extra-adrenal autonomic paraganglia, respectively. Only 1–3% of head and neck PGL (HNPGL) show elevated catecholamines, and at least 30% of...
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| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2020/6827109 |
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| author | Alejandro Terrones-Lozano Alan Hernández-Hernández Edgar Nathal Vera Gerardo Yoshiaki Guinto-Nishimura Jorge Luis Balderrama-Bañares Claudia Ramírez-Rentería Judith de la Serna-Soto Alfredo Adolfo Reza-Albarran Lesly Portocarrero-Ortiz |
| author_facet | Alejandro Terrones-Lozano Alan Hernández-Hernández Edgar Nathal Vera Gerardo Yoshiaki Guinto-Nishimura Jorge Luis Balderrama-Bañares Claudia Ramírez-Rentería Judith de la Serna-Soto Alfredo Adolfo Reza-Albarran Lesly Portocarrero-Ortiz |
| author_sort | Alejandro Terrones-Lozano |
| collection | DOAJ |
| description | Introduction. Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and from the extra-adrenal autonomic paraganglia, respectively. Only 1–3% of head and neck PGL (HNPGL) show elevated catecholamines, and at least 30% of Pheo and PGL (PCPG) are associated with genetic syndromes caused by germline mutations in tumor suppressor genes and proto-oncogenes. Clinical Case. A 33-year-old man with a past medical history of resection of an abdominal PGL at the age of eleven underwent a CT scan after a mild traumatic brain injury revealing an incidental brain tumor. The diagnosis of a functioning PGL was made, and further testing was undertaken with a PET-CT with 68Ga-DOTATATE, SPECT-CT 131-MIBG, and genetic testing. Discussion and Conclusion. The usual clinical presentation of functioning PCPG includes paroxistic hypertension, headache, and diaphoresis, sometimes with a suggestive family history in 30–40% of cases. Only 20% of PGL are located in head and neck, of which only 1–3% will show elevated catecholamines. Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. Genetic testing is important in patients with PCPG since 31% will present a germline mutation. In this particular patient, an SDHB gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG. |
| format | Article |
| id | doaj-art-175e7d8909134edd90c959469584f2b7 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-175e7d8909134edd90c959469584f2b72025-02-03T01:05:09ZengWileyCase Reports in Endocrinology2090-65012090-651X2020-01-01202010.1155/2020/68271096827109Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous TumorsAlejandro Terrones-Lozano0Alan Hernández-Hernández1Edgar Nathal Vera2Gerardo Yoshiaki Guinto-Nishimura3Jorge Luis Balderrama-Bañares4Claudia Ramírez-Rentería5Judith de la Serna-Soto6Alfredo Adolfo Reza-Albarran7Lesly Portocarrero-Ortiz8Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez (INNN) Neuroendocrinology, Mexico City, MexicoNeurosurgery (INNN), Mexico City, MexicoNeurosurgery (INNN), Mexico City, MexicoNeurosurgery (INNN), Mexico City, MexicoEndovascular Therapy (INNN), Mexico City, MexicoUnidad de Investigación en Endocrinología Experimental, Siglo XXI Instituto Mexicano del Seguro Social, Mexico City, MexicoNeuroanesthesia (INNN), Mexico City, MexicoInstituto Nacional de Ciencias Medicas y Nutrición, Mexico City, MexicoInstituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez (INNN) Neuroendocrinology, Mexico City, MexicoIntroduction. Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and from the extra-adrenal autonomic paraganglia, respectively. Only 1–3% of head and neck PGL (HNPGL) show elevated catecholamines, and at least 30% of Pheo and PGL (PCPG) are associated with genetic syndromes caused by germline mutations in tumor suppressor genes and proto-oncogenes. Clinical Case. A 33-year-old man with a past medical history of resection of an abdominal PGL at the age of eleven underwent a CT scan after a mild traumatic brain injury revealing an incidental brain tumor. The diagnosis of a functioning PGL was made, and further testing was undertaken with a PET-CT with 68Ga-DOTATATE, SPECT-CT 131-MIBG, and genetic testing. Discussion and Conclusion. The usual clinical presentation of functioning PCPG includes paroxistic hypertension, headache, and diaphoresis, sometimes with a suggestive family history in 30–40% of cases. Only 20% of PGL are located in head and neck, of which only 1–3% will show elevated catecholamines. Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. Genetic testing is important in patients with PCPG since 31% will present a germline mutation. In this particular patient, an SDHB gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG.http://dx.doi.org/10.1155/2020/6827109 |
| spellingShingle | Alejandro Terrones-Lozano Alan Hernández-Hernández Edgar Nathal Vera Gerardo Yoshiaki Guinto-Nishimura Jorge Luis Balderrama-Bañares Claudia Ramírez-Rentería Judith de la Serna-Soto Alfredo Adolfo Reza-Albarran Lesly Portocarrero-Ortiz Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors Case Reports in Endocrinology |
| title | Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors |
| title_full | Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors |
| title_fullStr | Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors |
| title_full_unstemmed | Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors |
| title_short | Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors |
| title_sort | current approach of functioning head and neck paragangliomas case report of a young patient with multiple asynchronous tumors |
| url | http://dx.doi.org/10.1155/2020/6827109 |
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