SDHC Mutations are Associated with Cardiac Paragangliomas: A Case Report of a Patient With a Dopamine-Secreting Tumor and Review of the Literature
ABSTRACT: Objective: Paragangliomas are rare tumors of neuroendocrine origin; approximately 30% of these tumors are related to an underlying genetic condition. Many of the hereditary paragangliomas, particularly those arising in the head and neck, have been linked to mutations in genes encoding diff...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2015-01-01
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| Series: | AACE Clinical Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2376060520303461 |
| _version_ | 1818920059068743680 |
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| author | Daniela Guelho, MD Daniela Stefania Trifu, MD Treena Cranston, BSc, DipRCPath Colin Forfar, MD, PhD Niki Karavitaki, PhD, FRCP Ashley B. Grossman, MD; FMedSci |
| author_facet | Daniela Guelho, MD Daniela Stefania Trifu, MD Treena Cranston, BSc, DipRCPath Colin Forfar, MD, PhD Niki Karavitaki, PhD, FRCP Ashley B. Grossman, MD; FMedSci |
| author_sort | Daniela Guelho, MD |
| collection | DOAJ |
| description | ABSTRACT: Objective: Paragangliomas are rare tumors of neuroendocrine origin; approximately 30% of these tumors are related to an underlying genetic condition. Many of the hereditary paragangliomas, particularly those arising in the head and neck, have been linked to mutations in genes encoding different subunits of the succinate dehydrogenase (SDH) enzyme complex. The authors report an atypical presentation of a rare mutation in the SDH complex subunit C gene (SDHC).Methods: We reviewed the patient's clinical course, along with relevant literature for similar reported cases.Results: A 45-year-old woman with a background of multiple and recurrent paragangliomas (left glomus jugulare, right carotid body tumor, intrathyroidal and right lung paragangliomas) was found to have an intrapericardiac paraganglioma associated with excess levels of dopamine metabolites. Simultaneously, the proband's son was diagnosed with a macroprolactinoma at age 23 years. Genetic workup identified an underlying germline mutation in the gene encoding SDHC, consistent with the diagnosis of familial paraganglioma syndrome type 3. Current knowledge regarding the clinical implications of an SDHC gene mutation have been reviewed.Conclusion: Patients with SDHC gene mutations can develop paragangliomas within the pericardium. Our patient presented with multiple recurrent paragangliomas, in different locations, including within the pericardium. These tumors were functional, including a dopamine-secreting paraganglioma. The presence of multiple paragangliomas, the cardiac localization of tumors, the high risk of recurrence, and the elevation of 3-methoxytyramine levels should be taken into account when treating these patients. In addition, the diagnosis of macroprolactinoma in our patient's son reinforces the reported association between SDH mutations and the development of pituitary tumors.Abbreviations: MRI magnetic resonance imaging RET RET proto-oncogene SDH succinate dehydrogenase SDHB succinate dehydrogenase enzyme complex subunit B SDHC succinate dehydrogenase enzyme complex subunit C |
| first_indexed | 2024-12-20T01:15:43Z |
| format | Article |
| id | doaj.art-6f04c9032e934757a97d57818de86ea5 |
| institution | Directory Open Access Journal |
| issn | 2376-0605 |
| language | English |
| last_indexed | 2024-12-20T01:15:43Z |
| publishDate | 2015-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | AACE Clinical Case Reports |
| spelling | doaj.art-6f04c9032e934757a97d57818de86ea52022-12-21T19:58:34ZengElsevierAACE Clinical Case Reports2376-06052015-01-0114e273e277SDHC Mutations are Associated with Cardiac Paragangliomas: A Case Report of a Patient With a Dopamine-Secreting Tumor and Review of the LiteratureDaniela Guelho, MD0Daniela Stefania Trifu, MD1Treena Cranston, BSc, DipRCPath2Colin Forfar, MD, PhD3Niki Karavitaki, PhD, FRCP4Ashley B. Grossman, MD; FMedSci5From the Department of Endocrinology, Diabetes and Metabolism of Coimbra Hospital and University Centre, Coimbra, Portugal; Address correspondence to Dr. Daniela Guelho; Department of Endocrinology, Diabetes and Metabolism of Coimbra Hospital and University Centre, Praceta Prof. Mota Pinto, 3000-075 Coimbra, Portugal.Department of Endocrinology, Príncipe de Asturias Hospital, Alcalá de Henares, Madrid, SpainCancer and Endocrine Services, Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, United KingdomDepartment of Cardiology, John Radcliffe Hospital, Churchill Hospital, Oxford, United KingdomDepartment of Endocrinology, OCDEM, Churchill Hospital, Oxford, United Kingdom.Department of Endocrinology, OCDEM, Churchill Hospital, Oxford, United Kingdom.ABSTRACT: Objective: Paragangliomas are rare tumors of neuroendocrine origin; approximately 30% of these tumors are related to an underlying genetic condition. Many of the hereditary paragangliomas, particularly those arising in the head and neck, have been linked to mutations in genes encoding different subunits of the succinate dehydrogenase (SDH) enzyme complex. The authors report an atypical presentation of a rare mutation in the SDH complex subunit C gene (SDHC).Methods: We reviewed the patient's clinical course, along with relevant literature for similar reported cases.Results: A 45-year-old woman with a background of multiple and recurrent paragangliomas (left glomus jugulare, right carotid body tumor, intrathyroidal and right lung paragangliomas) was found to have an intrapericardiac paraganglioma associated with excess levels of dopamine metabolites. Simultaneously, the proband's son was diagnosed with a macroprolactinoma at age 23 years. Genetic workup identified an underlying germline mutation in the gene encoding SDHC, consistent with the diagnosis of familial paraganglioma syndrome type 3. Current knowledge regarding the clinical implications of an SDHC gene mutation have been reviewed.Conclusion: Patients with SDHC gene mutations can develop paragangliomas within the pericardium. Our patient presented with multiple recurrent paragangliomas, in different locations, including within the pericardium. These tumors were functional, including a dopamine-secreting paraganglioma. The presence of multiple paragangliomas, the cardiac localization of tumors, the high risk of recurrence, and the elevation of 3-methoxytyramine levels should be taken into account when treating these patients. In addition, the diagnosis of macroprolactinoma in our patient's son reinforces the reported association between SDH mutations and the development of pituitary tumors.Abbreviations: MRI magnetic resonance imaging RET RET proto-oncogene SDH succinate dehydrogenase SDHB succinate dehydrogenase enzyme complex subunit B SDHC succinate dehydrogenase enzyme complex subunit Chttp://www.sciencedirect.com/science/article/pii/S2376060520303461 |
| spellingShingle | Daniela Guelho, MD Daniela Stefania Trifu, MD Treena Cranston, BSc, DipRCPath Colin Forfar, MD, PhD Niki Karavitaki, PhD, FRCP Ashley B. Grossman, MD; FMedSci SDHC Mutations are Associated with Cardiac Paragangliomas: A Case Report of a Patient With a Dopamine-Secreting Tumor and Review of the Literature AACE Clinical Case Reports |
| title | SDHC Mutations are Associated with Cardiac Paragangliomas: A Case Report of a Patient With a Dopamine-Secreting Tumor and Review of the Literature |
| title_full | SDHC Mutations are Associated with Cardiac Paragangliomas: A Case Report of a Patient With a Dopamine-Secreting Tumor and Review of the Literature |
| title_fullStr | SDHC Mutations are Associated with Cardiac Paragangliomas: A Case Report of a Patient With a Dopamine-Secreting Tumor and Review of the Literature |
| title_full_unstemmed | SDHC Mutations are Associated with Cardiac Paragangliomas: A Case Report of a Patient With a Dopamine-Secreting Tumor and Review of the Literature |
| title_short | SDHC Mutations are Associated with Cardiac Paragangliomas: A Case Report of a Patient With a Dopamine-Secreting Tumor and Review of the Literature |
| title_sort | sdhc mutations are associated with cardiac paragangliomas a case report of a patient with a dopamine secreting tumor and review of the literature |
| url | http://www.sciencedirect.com/science/article/pii/S2376060520303461 |
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