65 years of the double helix : genetics informs precision practice in the diagnosis and management of pheochromocytoma

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 e...

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Main Authors: Neumann, Hartmut P., Young, William F., Krauss, Tobias, Bayley, Jean-Pierre, Schiavi, Francesca, Opocher, Giuseppe, Boedeker, Carsten C., Tirosh, Amit, Castinetti, Frederic, Ruf, Juri, Beltsevich, Dmitry, Walz, Martin, Groeben, Harald-Thomas, von Dobschuetz, Ernst, Gimm, Oliver, Wohllk, Nelson, Pfeifer, Marija, Lourenço, Delmar M., Peczkowska, Mariola, Patocs, Attila, Ngeow, Joanne, Makay, Özer, Shah, Nalini S., Tischler, Arthur, Leijon, Helena, Pennelli, Gianmaria, Villar Gómez de Las Heras, Karina, Links, Thera P., Bausch, Birke, Eng, Charis
Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
Format: Article
Language:English
Published: 2020
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Online Access:https://hdl.handle.net/10356/144585
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Institution: Nanyang Technological University
Language: English
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spelling sg-ntu-dr.10356-1445852020-11-13T06:03:03Z 65 years of the double helix : genetics informs precision practice in the diagnosis and management of pheochromocytoma Neumann, Hartmut P. Young, William F. Krauss, Tobias Bayley, Jean-Pierre Schiavi, Francesca Opocher, Giuseppe Boedeker, Carsten C. Tirosh, Amit Castinetti, Frederic Ruf, Juri Beltsevich, Dmitry Walz, Martin Groeben, Harald-Thomas von Dobschuetz, Ernst Gimm, Oliver Wohllk, Nelson Pfeifer, Marija Lourenço, Delmar M. Peczkowska, Mariola Patocs, Attila Ngeow, Joanne Makay, Özer Shah, Nalini S. Tischler, Arthur Leijon, Helena Pennelli, Gianmaria Villar Gómez de Las Heras, Karina Links, Thera P. Bausch, Birke Eng, Charis Lee Kong Chian School of Medicine (LKCMedicine) Science::Medicine Brown Adipose Tissue Lipid Metabolism 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. 2020-11-13T06:03:02Z 2020-11-13T06:03:02Z 2018 Journal Article Neumann, H. P., Young, W. F., Krauss, T., Bayley, J.-P., Schiavi, F., Opocher, G., ... Eng, C. (2018). 65 years of the double helix : genetics informs precision practice in the diagnosis and management of pheochromocytoma. Endocrine-Related Cancer, 25(8), T201-T219. doi:10.1530/ERC-18-0085. 1479-6821 https://hdl.handle.net/10356/144585 10.1530/ERC-18-0085 29794110 8 25 T201-T219 T219 en Endocrine-Related Cancer © 2018 Society for Endocrinology. All rights reserved.
institution Nanyang Technological University
building NTU Library
continent Asia
country Singapore
Singapore
content_provider NTU Library
collection DR-NTU
language English
topic Science::Medicine
Brown Adipose Tissue
Lipid Metabolism
spellingShingle Science::Medicine
Brown Adipose Tissue
Lipid Metabolism
Neumann, Hartmut P.
Young, William F.
Krauss, Tobias
Bayley, Jean-Pierre
Schiavi, Francesca
Opocher, Giuseppe
Boedeker, Carsten C.
Tirosh, Amit
Castinetti, Frederic
Ruf, Juri
Beltsevich, Dmitry
Walz, Martin
Groeben, Harald-Thomas
von Dobschuetz, Ernst
Gimm, Oliver
Wohllk, Nelson
Pfeifer, Marija
Lourenço, Delmar M.
Peczkowska, Mariola
Patocs, Attila
Ngeow, Joanne
Makay, Özer
Shah, Nalini S.
Tischler, Arthur
Leijon, Helena
Pennelli, Gianmaria
Villar Gómez de Las Heras, Karina
Links, Thera P.
Bausch, Birke
Eng, Charis
65 years of the double helix : genetics informs precision practice in the diagnosis and management of pheochromocytoma
description 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.
author2 Lee Kong Chian School of Medicine (LKCMedicine)
author_facet Lee Kong Chian School of Medicine (LKCMedicine)
Neumann, Hartmut P.
Young, William F.
Krauss, Tobias
Bayley, Jean-Pierre
Schiavi, Francesca
Opocher, Giuseppe
Boedeker, Carsten C.
Tirosh, Amit
Castinetti, Frederic
Ruf, Juri
Beltsevich, Dmitry
Walz, Martin
Groeben, Harald-Thomas
von Dobschuetz, Ernst
Gimm, Oliver
Wohllk, Nelson
Pfeifer, Marija
Lourenço, Delmar M.
Peczkowska, Mariola
Patocs, Attila
Ngeow, Joanne
Makay, Özer
Shah, Nalini S.
Tischler, Arthur
Leijon, Helena
Pennelli, Gianmaria
Villar Gómez de Las Heras, Karina
Links, Thera P.
Bausch, Birke
Eng, Charis
format Article
author Neumann, Hartmut P.
Young, William F.
Krauss, Tobias
Bayley, Jean-Pierre
Schiavi, Francesca
Opocher, Giuseppe
Boedeker, Carsten C.
Tirosh, Amit
Castinetti, Frederic
Ruf, Juri
Beltsevich, Dmitry
Walz, Martin
Groeben, Harald-Thomas
von Dobschuetz, Ernst
Gimm, Oliver
Wohllk, Nelson
Pfeifer, Marija
Lourenço, Delmar M.
Peczkowska, Mariola
Patocs, Attila
Ngeow, Joanne
Makay, Özer
Shah, Nalini S.
Tischler, Arthur
Leijon, Helena
Pennelli, Gianmaria
Villar Gómez de Las Heras, Karina
Links, Thera P.
Bausch, Birke
Eng, Charis
author_sort Neumann, Hartmut P.
title 65 years of the double helix : genetics informs precision practice in the diagnosis and management of pheochromocytoma
title_short 65 years of the double helix : genetics informs precision practice in the diagnosis and management of pheochromocytoma
title_full 65 years of the double helix : genetics informs precision practice in the diagnosis and management of pheochromocytoma
title_fullStr 65 years of the double helix : genetics informs precision practice in the diagnosis and management of pheochromocytoma
title_full_unstemmed 65 years of the double helix : genetics informs precision practice in the diagnosis and management of pheochromocytoma
title_sort 65 years of the double helix : genetics informs precision practice in the diagnosis and management of pheochromocytoma
publishDate 2020
url https://hdl.handle.net/10356/144585
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