[Hereditary paragangliomas and pheochromocytomas].
Paraganglioma are rare tumours, which develop in the paraganglionic sites of the head and the neck, and around the medulla of the adrenal gland and the sympathetic ganglions of the thoracoabdominal and pelvic regions. Their morbidity-mortality is due to the local and regional spread to the adjacent nervous and vascular structures, their hypervascularisation, the major cardiovascular complications when they are secreting tumours and the risk of recurrences and metastases. Paraganglioma can secrete catecholamines. The only curative treatment is surgical exeresis. The hereditary paraganglioma are more often multifocal, recurrent, sometimes malignant, and with an earlier occurrence than the sporadic forms. The genes responsible for the familial syndromes are the coding genes for the three sub-units of succinate dehydrogenase (SDHD, SDHB and SDHC) or mitochondrial complex II. Recent discoveries show that these genes are truly implicated in the sporadic forms of the illness and that the research for a germline mutation of a SDH gene is essential for managing patients with paraganglioma and/or pheochromocytoma and their families.
Gimenez-Roqueplo
Anne-Paule
AP
Département de génétique, hôpital européen Georges-Pompidou, Assistance-publique-Hôpitaux-de-Paris, 20-40, rue Leblanc, 75015 Paris, France. anne-paule.gimenez@hop.egp.ap-hop-paris.fr
D000310:Adrenal Gland Neoplasms / Q000235:genetics; D006801:Humans; D025542:Neurofibromin 1 / Q000235:genetics; D010235:Paraganglioma / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics
D025542:Neurofibromin 1; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; C497446:VHL protein, human