Genetic and clinical investigation of pheochromocytoma: A 22-year experience, from Freiburg, Germany to international effort

Birke Bausch, Carsten C. Boedeker, Ansgar Berlis, Ingo Brink, Markus Cybulla, Martin K. Walz, Andrzej Januszewicz, Claudio Letizia, Giuseppe Opocher, E. N G Charis, Hartmut P H Neumann

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Abstract

Although deceptively simple, the etio-pathogenesis of pheochromocytoma represents a clinical and molecular genetic investigative challenge. Here, we summarize, from a historical point of view, the 22-year-long studies initiated at the University of Freiburg, which developed from a local experience to a national and finally an international effort. All research activities are translational and clinical and hence, registry based and intended to improve the outcome of the patients, whether by improved detection, prevention, or treatment. Major clinical steps are the prospective study on hormone tests and imaging techniques for adrenal and extra-adrenal abdominal tumors as well as the concept of organ sparing and endoscopic tumor resection. Further, we introduced 18-fluoro-dopa positron emission tomography. Population-based registries were used in order to identify germline mutations in the susceptibility genes VHL, RET, SDHB, and SDHD in non-syndromic pheochromocytoma. We differentiated distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. Finally, we identified predictors and prevalence of paraganglioma syndromes associated with mutations of the SDHC gene.

Original languageEnglish
Title of host publicationAnnals of the New York Academy of Sciences
Pages122-137
Number of pages16
Volume1073
DOIs
Publication statusPublished - Aug 2006

Publication series

NameAnnals of the New York Academy of Sciences
Volume1073
ISSN (Print)00778923
ISSN (Electronic)17496632

Keywords

  • Guidelines for clinical management
  • MEN
  • Paraganglioma
  • PGL
  • Pheochromocytoma
  • Registry-based research
  • RET
  • SDHB
  • SDHC
  • SDHD
  • VHL

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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  • Cite this

    Bausch, B., Boedeker, C. C., Berlis, A., Brink, I., Cybulla, M., Walz, M. K., Januszewicz, A., Letizia, C., Opocher, G., Charis, E. N. G., & Neumann, H. P. H. (2006). Genetic and clinical investigation of pheochromocytoma: A 22-year experience, from Freiburg, Germany to international effort. In Annals of the New York Academy of Sciences (Vol. 1073, pp. 122-137). (Annals of the New York Academy of Sciences; Vol. 1073). https://doi.org/10.1196/annals.1353.013