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A Journal on Endocrine System Diseases

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Minerva Endocrinoiogica 2009 June;34(2):107-21

language: English

Genetics of adrenal tumors

Opocher G. 1,3, Schiavi F. 1, Cicala M. V. 2,3, Patalano A. 2,3, Mariniello B. 2,3, Boaretto F. 1, Zovato S. 1, Pignataro V., Macino B. 1, Negro L. 1, Mantero F. 2,3

1 Familial Cancer Clinic Veneto Institute of Oncology, Padua, Italy
2 Unit of Endocrinology University Hospital of Padua, Padua, Italy
3 Department of Medical and Surgical sciences University of Padua, Padua, Italy


The impact of genetics and genomics on clinical medicine is becoming more and more important. Endocrinology pioneered the development of molecular medicine, but also the study of adrenal tumors had a great impact in this field. Particularly important was the detection of genetics of tumors derived from the adrenal medulla, as well as that of those derived from the sympathetic and parasympathetic paraganglia. The identification of mutations in one of the several pheochromocytoma/paraganglioma susceptibility genes may indicate a specific clinical management drive. Less well understood is the genetics of adrenal cortex tumors, in particular adrenocortical carcinoma, a rare and particularly aggressive disease. There are only a few examples of hereditary transmission of adrenocortical carcinoma, but the analysis of low penetrance genes by genome wide association study may enable us to discover new genetic mechanisms responsible for adrenocortical-derived tumors.

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