65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma

摘要: Although the authors of present review have contributed to genetic discoveries in field pheochromocytoma research, we can legitimately ask whether these advances led improvements diagnosis and management patients with pheochromocytoma. The answer this question is an emphatic Yes! In molecular genetics, well-established axiom that familial (genetic) represents 10% all cases has been overturned, >35% now attributable germline disease-causing mutations. Furthermore, be grouped into five different clinical presentation types context ten known susceptibility genes for pheochromocytoma-associated syndromes. We tools diagnose pheochromocytoma, identify mutation carriers offer gene-informed medical including enhanced surveillance prevention. Clinically, treat entire family tumors paraganglia, exact phenotype varying by specific gene. terms detection classification, simultaneous biochemical imaging localization taken place, histopathology paraganglioma tumor revised immunohistochemical-genetic classification gene-specific antibody immunohistochemistry. Treatment options also substantially enriched application minimally invasive adrenal-sparing surgery. Finally most importantly, it widely recognized pheochromocytoma/paraganglioma syndromes should treated specialized centers dedicated diagnosis, treatment rare neoplasm.