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Genetic stratification of inherited and sporadic phaeochromocytoma and paraganglioma: implications for precision medicine.

Authors
  • Casey, Ruth1, 2, 3
  • Neumann, Hartmut P H4
  • Maher, Eamonn R1, 2
  • 1 Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.
  • 2 NIHR Cambridge Biomedical Research Centre, Cambridge, CB2 0QQ, UK.
  • 3 Department of Endocrinology, Cambridge University Hospital Foundation Trust, Cambridge CB2 0QQ, UK.
  • 4 Section for Preventive Medicine, Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany. , (Germany)
Type
Published Article
Journal
Human Molecular Genetics
Publisher
Oxford University Press
Publication Date
Oct 20, 2020
Volume
29
Issue
R2
Identifiers
DOI: 10.1093/hmg/ddaa201
PMID: 33059362
Source
Medline
Language
English
License
Unknown

Abstract

Over the past two decades advances in genomic technologies have transformed knowledge of the genetic basis of phaeochromocytoma and paraganglioma (PPGL). Though traditional teaching suggested that inherited cases accounted for only 10% of all phaeochromocytoma diagnosis, current estimates are at least three times this proportion. Inherited PPGL is a highly genetically heterogeneous disorder but the most frequently results from inactivating variants in genes encoding subunits of succinate dehydrogenase. Expanding knowledge of the genetics of PPGL has been translated into clinical practice by the provision of widespread testing for inherited PPGL. In this review, we explore how the molecular stratification of PPGL is being utilized to enable more personalized strategies for investigation, surveillance and management of affected individuals and their families. Translating recent genetic research advances into clinical service can not only bring benefits through more accurate diagnosis and risk prediction but also challenges when there is a suboptimal evidence base for the clinical consequences or significance of rare genotypes. In such cases, clinical, biochemical, pathological and functional imaging assessments can all contribute to more accurate interpretation and clinical management. © The Author(s) 2020. Published by Oxford University Press. All rights reserved. For Permissions, please email: [email protected]

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