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A 22-Year Experience, from Freiburg, Germany to International Effort
a Department of Nephrology, b Department of Otorhinolaryngology, c Department of Neuroradiology, and d Department of Nuclear Medicine, Albert-Ludwigs-University, D79106 Freiburg, Germany e Department of Surgery, Kliniken Essen-Mitte, Essen, Germany f Department of Hypertension, Institute of Cardiology, Warsaw, Poland g Department of Clinical Sciences, University of Rome, La Sapienza, Italy h Department of Endocrinology, University of Padova, Italy i Genomic Medicine Institute, Cleveland Clinic Foundation, and Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA
Key Words: pheochromocytoma • paraganglioma • VHL • MEN • RET • PGL • SDHB • SDHC • SDHD • registry-based research • guidelines for clinical management
Address for correspondence: Dr. Hartmut P.H. Neumann, Medizinische Universitätsklinik, Hugstetter Straße 55, D 79106 Freiburg, Germany. Voice: +49-761-270-3363; fax: +49-761-270-3778. e-mail: neumann{at}med1.ukl.uni-freiburg.de
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.
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