ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2011) 25 PL5

Genes and adrenal Cushing's syndrome: advance through European and world networks

Xavier Bertagna1,2


1Service des Maladies Endocriniennes et Métaboliques, Hôpital Cochin, Paris, France; 2Equipe Signalisation et Tumeurs Endocrines, INSERM U-567, Endocrinology Department, Faculté de Médecine Paris Descartes, Institut Cochin, Université Paris 5, Paris, France.


Adrenal tumors – like many endocrine tumors – bear two classical threats: hormone hypersecretion and/or oncogenic potential. Also, because they are rare, their recognition may be delayed; and syndromic- or malignant tumors may be misdiagnosed…adding further threats…

This talk will concentrate on recent progress brought by genetic studies with the aim of improving our understanding of the pathophysiology of these tumors, our diagnostic ability, therefore minimizing the risk of misdiagnosis.

We will present and discuss progress in two directions.

Primary pigmented nodular adrenocortical dysplasia (PPNAD), with or without the Carney Complex, is a recently identified cause of adrenal Cushing most often associated with PRKAR1A germinal mutations. Apart from discussing its peculiar clinical presentations, we will show the role of the various actors along the cAMP pathway, some recently identified, including in other clinical situations.

In front of a localized adrenal cortical tumor (ACT) it may be extremely difficult to distinguish between a benign and a malignant tumor; yet it is the time when ‘complete’ surgical removal of an adrenal cortical carcinoma (ACC), stages 1 or 2 of the ENS@T classification, is possible and the probability of cure is maximized. We will stress the role of the endocrinologist to recognize the potential malignant nature of these tumors, and the recent progress on the molecular classification of these tumors.

Emphasis will be put on the inescapable role of National and International networks to improve our knowledge and management of these rare disorders, as exemplified, among others, by the interaction between Wurzburg, Paris, … and Birmingham.

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