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


METHODS
This is a clinical case report from the Endocrinology Department of Caen University Hospital, France.


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


RESULTS
The epithelial component of the tumor coexpressed ACTH mildly, corticotropin-releasing hormone (CRH) strongly, and 11beta-hydroxysteroid dehydrogenase at a level comparable with normal human hepatocytes.


CONCLUSIONS
Liver NSET is a new cause of EAS, which may evoke hypercortisolism by multiple biochemical pathways.
Rod
Anne
A
Unité Fonctionnelle d'Endocrinologie et Maladies Métaboliques, Department of Medicine, CHU Côte de Nacre, 14033 Caen Cedex, France.
Voicu
Manuela
M
Chiche
Laurence
L
Bazille
Céline
C
Mittre
Hervé
H
Louiset
Estelle
E
Reznik
Yves
Y
D042842:11-beta-Hydroxysteroid Dehydrogenases / Q000096:biosynthesis / Q000235:genetics; D000182:ACTH Syndrome, Ectopic / Q000150:complications* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D000293:Adolescent; D000324:Adrenocorticotropic Hormone / Q000378:metabolism / Q000652:urine; D003346:Corticotropin-Releasing Hormone / Q000096:biosynthesis / Q000235:genetics; D003480:Cushing Syndrome / Q000209:etiology* / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism / Q000652:urine; D007150:Immunohistochemistry; D008113:Liver Neoplasms / Q000150:complications* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D011333:Pro-Opiomelanocortin / Q000096:biosynthesis / Q000235:genetics; D012334:RNA, Neoplasm / Q000096:biosynthesis / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
D012334:RNA, Neoplasm; D011333:Pro-Opiomelanocortin; D000324:Adrenocorticotropic Hormone; D003346:Corticotropin-Releasing Hormone; D042842:11-beta-Hydroxysteroid Dehydrogenases; D006854:Hydrocortisone