1. 65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma
- Author
-
Giuseppe Opocher, Helena Leijon, Martin K. Walz, Frederic Castinetti, Nelson Wohllk, Juri Ruf, Hartmut P. H. Neumann, Gianmaria Pennelli, Carsten Christof Boedeker, Ernst von Dobschuetz, Mariola Pęczkowska, Charis Eng, Attila Patócs, Harald Groeben, Jean-Pierre Bayley, William F. Young, Delmar M. Lourenço, Francesca Schiavi, Oliver Gimm, Dmitry Beltsevich, Birke Bausch, Tobias Krauss, Karina Villar Gómez de las Heras, Amit Tirosh, Marija Pfeifer, Thera P. Links, Arthur S. Tischler, Özer Makay, Joanne Ngeow, Nalini S. Shah, Albert-Ludwigs-Universität Freiburg, Mayo Clinic [Rochester], University of Freiburg [Freiburg], Universiteit Leiden, Familial Cancer Clinic, Veneto Institute of Oncology, IRCCS & Department of Medical and Surgical Sciences, Università degli Studi di Padova = University of Padua (Unipd), Tel Aviv University (TAU), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Kliniken Essen-Mitte, Gall, Valérie, Leiden University, Lee Kong Chian School of Medicine (LKCMedicine), Universita degli Studi di Padova, Tel Aviv University [Tel Aviv], HUSLAB, Department of Pathology, Medicum, Clinicum, University of Helsinki, and Ege Üniversitesi
- Subjects
0301 basic medicine ,Cancer Research ,von Hippel-Lindau Disease ,Endocrinology, Diabetes and Metabolism ,Medizin ,NEUROFIBROMATOSIS TYPE-1 ,TUMOR-SUPPRESSOR GENE ,Bioinformatics ,0302 clinical medicine ,Endocrinology ,RENAL-CELL CARCINOMA ,Paraganglioma ,lipid metabolism ,oxidative stress ,Precision Medicine ,ENDOCRINE NEOPLASIA TYPE-2 ,Syndrome ,3. Good health ,SUCCINATE-DEHYDROGENASE ,Oncology ,030220 oncology & carcinogenesis ,Brown Adipose Tissue ,GERMLINE MUTATION CARRIERS ,medicine.medical_specialty ,Neurofibromatosis 1 ,ADRENAL-SPARING SURGERY ,3122 Cancers ,Context (language use) ,CASE SERIES ,Pheochromocytoma ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,HIPPEL-LINDAU-DISEASE ,03 medical and health sciences ,Germline mutation ,white adipose tissue ,Molecular genetics ,brown adipose tissue ,Endocrine Gland Neoplasms ,Genetic Predisposition to Disease ,Germ-Line Mutation ,Humans ,medicine ,RET PROTOONCOGENE ,Medicine [Science] ,Von Hippel–Lindau disease ,business.industry ,medicine.disease ,Precision medicine ,Lipid Metabolism ,Review article ,030104 developmental biology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,business - Abstract
WOS: 000439200100008, PubMed ID: 29794110, Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements in the diagnosis and management of patients with pheochromocytoma. The answer to this question is an emphatic Yes! In the field of molecular genetics, the well-established axiom that familial (genetic) pheochromocytoma represents 10% of all cases has been overturned, with >35% of cases now attributable to germline disease-causing mutations. Furthermore, genetic pheochromocytoma can now be grouped into five different clinical presentation types in the context of the ten known susceptibility genes for pheochromocytoma-associated syndromes. We now have the tools to diagnose patients with genetic pheochromocytoma, identify germline mutation carriers and to offer gene-informed medical management including enhanced surveillance and prevention. Clinically, we now treat an entire family of tumors of the paraganglia, with the exact phenotype varying by specific gene. In terms of detection and classification, simultaneous advances in biochemical detection and imaging localization have taken place, and the histopathology of the paraganglioma tumor family has been revised by immunohistochemical-genetic classification by gene-specific antibody immunohistochemistry. Treatment options have also been substantially enriched by the application of minimally invasive and adrenal-sparing surgery. Finally and most importantly, it is now widely recognized that patients with genetic pheochromocytoma/paraganglioma syndromes should be treated in specialized centers dedicated to the diagnosis, treatment and surveillance of this rare neoplasm.
- Published
- 2018
- Full Text
- View/download PDF