Genetic and clinical investigation of pheochromocytoma: a 22-year experience, from Freiburg, Germany to international effort.
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.
Bausch
Birke
B
Department of Nephrology, Albert-Ludwigs-University, Freiburg, Germany.
Boedeker
Carsten C
CC
Berlis
Ansgar
A
Brink
Ingo
I
Cybulla
Markus
M
Walz
Martin K
MK
Januszewicz
Andrzej
A
Letizia
Claudio
C
Opocher
Giuseppe
G
Eng
Charis
C
Neumann
Hartmut P H
HP
D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D005858:Germany; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010673:Pheochromocytoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D011877:Radionuclide Imaging; D013385:Succinate Dehydrogenase / Q000235:genetics
D013385:Succinate Dehydrogenase