2 documents found, page 1 of 1
Clinical and mutational analysis of a cohort of portuguese patients With paraga...
Rodrigues,Roger; R.Almeida,Maria; Carreiro,João; Assunção,Antonio; Braga,Sandrina; Sousa,Joel; Camacho,Nelson; Garrido,Pedro; Maia,Miguel; Gimenez,JoséAbstract Introduction: Representing 0.03% of all tumors, paragangliomas (PGLs) are extremely rare. During the past 15 years, there has been a significant progress in the knowledge of the genetics of PGLs. Germline mutations in succinate dehydrogenase (SDH) genes are the commonest genetic cause of PGL. Objective: Given the high clinical relevance of the SDH status, we aimed to evaluate the diagnostic and prognos...
Patients with new SDHD gene mutation with carotid body paragangliomas
Rodrigues,Roger; Almeida,Maria; Carreiro,João; Mendes,Carolina; Varino,Juliana; Marinho,André; Pereira,Bárbara; Moreira,Mário; Botelho,MafaldaParagangliomas (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...