NOVA MUTAÇÃO DO GENE SDHD EM PACIENTES COM PARAGANGLIOMAS DO CORPO CAROTÍDEO

  • Roger Rodrigues Serviço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de Coimbra
  • Maria Almeida Centro de Neurociências e Biologia Celular, Universidade de Coimbra
  • João Carreiro Serviço de Cirurgia Maxilofacial, Centro Hospitalar e Universitário de Coimbra
  • Carolina Mendes Serviço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de Coimbra
  • Juliana Varino Serviço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de Coimbra
  • André Marinho Serviço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de Coimbra
  • Bárbara Pereira Serviço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de Coimbra
  • Mário Moreira Serviço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de Coimbra
  • Mafalda Botelho Serviço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de Coimbra
  • Óscar Gonçalves Serviço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de Coimbra
  • António Albuquerque Matos Serviço de Angiologia e Cirurgia Vascular, Centro Hospitalar e Universitário de Coimbra
Keywords: Paraganglioma, Carotid body tumour, Familial paraganglioma, Mutation, SDHD, Succinate dehydrogenase, Surgery

Abstract

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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Published
2018-12-02
Section
Clinical Case

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