NOVA MUTAÇÃO DO GENE SDHD EM PACIENTES COM PARAGANGLIOMAS DO CORPO CAROTÍDEO
Paragangliomas (PGLs) are neuroendocrine neoplasms that can occur throughout the body wherever there is paraganglia. Representing 0.03% of all tumours, PGLs are extremely rare. Although predominantly benign and amenable to cure by surgical ressection, up to 6% can be malignant. To date, three genes...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | Portuguese |
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Sociedade Portuguesa de Angiologia e Cirurgia Vascular
2018-12-01
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| Series: | Angiologia e Cirurgia Vascular |
| Subjects: | |
| Online Access: | https://acvjournal.com/index.php/acv/article/view/38 |
| _version_ | 1797951923401261056 |
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| author | Roger Rodrigues Maria Almeida João Carreiro Carolina Mendes Juliana Varino André Marinho Bárbara Pereira Mário Moreira Mafalda Botelho Óscar Gonçalves António Albuquerque Matos |
| author_facet | Roger Rodrigues Maria Almeida João Carreiro Carolina Mendes Juliana Varino André Marinho Bárbara Pereira Mário Moreira Mafalda Botelho Óscar Gonçalves António Albuquerque Matos |
| author_sort | Roger Rodrigues |
| collection | DOAJ |
| description | Paragangliomas (PGLs) are neuroendocrine neoplasms that can occur throughout the body wherever there is paraganglia. Representing 0.03% of all tumours, PGLs are extremely rare. Although predominantly benign and amenable to cure by surgical ressection, up to 6% can be malignant. To date, three genes have been identified that are associated with Familial PGLs. All three encode subunits (D, B and C) of the enzyme succinate dehydrogenase complex (SDH), which is part of the Kreb's cycle and the electron transport chain. We report a novel causative frameshift mutation in the subunit D of SDH (SDHD) in a family with Carotid Body Paragangliomas. This finding contributes for extending the known mutational spectrum of SDHD, and to help the genetic counseling of this family. Noteworthy, is now possible to offer to other relatives, still sub-clinical, a predictive test that would eventually aid an early surveillance/intervention for a better prognosis.
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| first_indexed | 2024-04-10T22:38:15Z |
| format | Article |
| id | doaj.art-4bfd62d5ecf64fa188aced63b4d1b3b8 |
| institution | Directory Open Access Journal |
| issn | 1646-706X 2183-0096 |
| language | Portuguese |
| last_indexed | 2024-04-10T22:38:15Z |
| publishDate | 2018-12-01 |
| publisher | Sociedade Portuguesa de Angiologia e Cirurgia Vascular |
| record_format | Article |
| series | Angiologia e Cirurgia Vascular |
| spelling | doaj.art-4bfd62d5ecf64fa188aced63b4d1b3b82023-01-16T09:17:36ZporSociedade Portuguesa de Angiologia e Cirurgia VascularAngiologia e Cirurgia Vascular1646-706X2183-00962018-12-0114110.48750/acv.38NOVA MUTAÇÃO DO GENE SDHD EM PACIENTES COM PARAGANGLIOMAS DO CORPO CAROTÍDEORoger Rodrigues0Maria Almeida1João Carreiro2Carolina Mendes3Juliana Varino4André Marinho5Bárbara Pereira6Mário Moreira7Mafalda Botelho8Óscar Gonçalves9António Albuquerque Matos10Serviço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de CoimbraCentro de Neurociências e Biologia Celular, Universidade de CoimbraServiço de Cirurgia Maxilofacial, Centro Hospitalar e Universitário de CoimbraServiço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de CoimbraServiço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de CoimbraServiço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de CoimbraServiço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de CoimbraServiço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de CoimbraServiço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de CoimbraServiço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de CoimbraServiço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de CoimbraParagangliomas (PGLs) are neuroendocrine neoplasms that can occur throughout the body wherever there is paraganglia. Representing 0.03% of all tumours, PGLs are extremely rare. Although predominantly benign and amenable to cure by surgical ressection, up to 6% can be malignant. To date, three genes have been identified that are associated with Familial PGLs. All three encode subunits (D, B and C) of the enzyme succinate dehydrogenase complex (SDH), which is part of the Kreb's cycle and the electron transport chain. We report a novel causative frameshift mutation in the subunit D of SDH (SDHD) in a family with Carotid Body Paragangliomas. This finding contributes for extending the known mutational spectrum of SDHD, and to help the genetic counseling of this family. Noteworthy, is now possible to offer to other relatives, still sub-clinical, a predictive test that would eventually aid an early surveillance/intervention for a better prognosis. https://acvjournal.com/index.php/acv/article/view/38ParagangliomaCarotid body tumourFamilial paragangliomaMutationSDHDSuccinate dehydrogenase |
| spellingShingle | Roger Rodrigues Maria Almeida João Carreiro Carolina Mendes Juliana Varino André Marinho Bárbara Pereira Mário Moreira Mafalda Botelho Óscar Gonçalves António Albuquerque Matos NOVA MUTAÇÃO DO GENE SDHD EM PACIENTES COM PARAGANGLIOMAS DO CORPO CAROTÍDEO Angiologia e Cirurgia Vascular Paraganglioma Carotid body tumour Familial paraganglioma Mutation SDHD Succinate dehydrogenase |
| title | NOVA MUTAÇÃO DO GENE SDHD EM PACIENTES COM PARAGANGLIOMAS DO CORPO CAROTÍDEO |
| title_full | NOVA MUTAÇÃO DO GENE SDHD EM PACIENTES COM PARAGANGLIOMAS DO CORPO CAROTÍDEO |
| title_fullStr | NOVA MUTAÇÃO DO GENE SDHD EM PACIENTES COM PARAGANGLIOMAS DO CORPO CAROTÍDEO |
| title_full_unstemmed | NOVA MUTAÇÃO DO GENE SDHD EM PACIENTES COM PARAGANGLIOMAS DO CORPO CAROTÍDEO |
| title_short | NOVA MUTAÇÃO DO GENE SDHD EM PACIENTES COM PARAGANGLIOMAS DO CORPO CAROTÍDEO |
| title_sort | nova mutacao do gene sdhd em pacientes com paragangliomas do corpo carotideo |
| topic | Paraganglioma Carotid body tumour Familial paraganglioma Mutation SDHD Succinate dehydrogenase |
| url | https://acvjournal.com/index.php/acv/article/view/38 |
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