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.

Genetic and clinical investigation of pheochromocytoma - A 22-year experience, from Freiburg, Germany to international effort / B., Bausch; C. C., Boedeker; A., Berlis; I., Brink; M., Cybulla; M. K., Walz; A., Januszewicz; Letizia, Claudio; G., Opocher; C., Eng; H. P. H., Neumann. - In: ANNALS OF THE NEW YORK ACADEMY OF SCIENCES. - ISSN 0077-8923. - 1073:1(2006), pp. 122-137. (Intervento presentato al convegno 1st International Symposium on Pheochromocytoma tenutosi a Bethesda, MD nel OCT 20-23, 2005) [10.1196/annals.1353.013].

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

LETIZIA, Claudio;
2006

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.
2006
guidelines for clinical management; men; paraganglioma; pgl; pheochromocytoma; registry-based research; ret; sdhb; sdhc; sdhd; vhl
01 Pubblicazione su rivista::01a Articolo in rivista
Genetic and clinical investigation of pheochromocytoma - A 22-year experience, from Freiburg, Germany to international effort / B., Bausch; C. C., Boedeker; A., Berlis; I., Brink; M., Cybulla; M. K., Walz; A., Januszewicz; Letizia, Claudio; G., Opocher; C., Eng; H. P. H., Neumann. - In: ANNALS OF THE NEW YORK ACADEMY OF SCIENCES. - ISSN 0077-8923. - 1073:1(2006), pp. 122-137. (Intervento presentato al convegno 1st International Symposium on Pheochromocytoma tenutosi a Bethesda, MD nel OCT 20-23, 2005) [10.1196/annals.1353.013].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/112503
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