Cushing’s syndrome associated with a nested stromal epithelial tumor of the liver : hormonal, immunohistochemical and molecular studies.

Anne Rod, Manuela Voicu, Céline Bazille, Hervé Mittre, Estelle Louiset, Laurence Chiche and Yves Reznik

A Rod, Unité Fonctionnelle d’Endocrinologie et Maladies Métaboliques, CHU Côte de Nacre, Caen, France
M Voicu, Laboratoire de Génétique et de Biologie Moléculaire, CHR Clemenceau, Caen, France
C Bazille, Département d’Anatomopathologie, CHU Côte de Nacre, Caen, France
H Mittre, Laboratoire de Génétique et de Biologie Moléculaire, CHR Clemenceau, Caen, France
E Louiset, Laboratoire de Neuroendocrinologie Moléculaire et Cellulaire, INSERM, U-413, Université de Rouen, Mont Saint Aignan, France
L Chiche, Département de Chirurgie Digestive et Transplantation Hépatique, CHU Côte de Nacre, Caen, France
Y Reznik, Unité Fonctionnelle d’Endocrinologie et Maladies Métaboliques, CHU Côte de Nacre, Caen, France

Correspondence: Anne Rod, Email: rod-a@chu-caen.fr

Abstract

Context : Ectopic ACTH syndrome (EAS) is principally associated with aggressive malignant tumors but also with neuroendocrine tumors of good prognosis. Recently, rare nonhepatocytic nested stromal and epithelial tumors (NSET) were characterized by their possible association with Cushing’s syndrome, which biochemical and physiopathological features were still incompletely studied.

Objective : To describe the clinical and hormonal characteristics of an EAS originating from a liver NSET, and further understand the mechanism of cortisol overproduction.

Design and setting : This is a clinical case report from the Endocrinology department of Caen University Hospital, France.

Patient and Intervention : A 17-yr old female patient was found to have a large liver NSET with mild Cushingoid clinical features, intense biological hypercortisolism but moderate ACTH secretion. Resection of the tumor was curative with a 30-months follow-up.

Results : The epithelial component of the tumor coexpressed ACTH mildly, CRH strongly and 11?-hydroxysteroid dehydrogenase at a level comparable to normal human hepatocytes.

Conclusions : Liver NSET is a new cause of EAS which may evoke hypercortisolism by multiple biochemical pathways.

From http://www.eje.org/cgi/content/abstract/EJE-09-0453v1