Genetics informs precision practice in the diagnosis and management of pheochromocytoma

Hartmut P. Neumann, William F. Young, Tobias Krauss, Jean Pierre Bayley, Francesca Schiavi, Giuseppe Opocher, Carsten C. Boedeker, Amit Tirosh, Frederic Castinetti, Juri Ruf, Dmitry Beltsevich, Martin Walz, Harald Thomas Groeben, Ernst Von Dobschuetz, Oliver Gimm, Nelson Wohllk, Marija Pfeifer, Delmar M. Lourenço, Mariola Peczkowska, Attila PatocsJoanne Ngeow, Özer Makay, Nalini S. Shah, Arthur Tischler, Helena Leijon, Gianmaria Pennelli, Karina Villar Gómez De las Heras, Thera P. Links, Birke Bausch, Charis Eng

Research output: Contribution to journalReview articlepeer-review

27 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)T201-T219
JournalEndocrine-Related Cancer
Issue number8
StatePublished - Aug 2018


  • Brown adipose tissue
  • Lipid metabolism
  • Oxidative stress
  • White adipose tissue

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Oncology
  • Endocrinology
  • Cancer Research


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