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Identification of genetic alterations of AXIN2 gene in adrenocortical tumors.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Bourdeau, Isabelle Ouadi, Lydia Durand, Julien Chapman, Audrey
Description	Author Affiliation: Chapman A ( Division of Endocrinology, Department of Medicine, Centre Hospitalier de l'Université de Montréal, Hôtel-Dieu, 3850 Saint Urbain Street, Montréal, Québec, Canada H2W 1T7.)
Abstract	BACKGROUND: Mutations of the ß-catenin gene (CTNNB1), which lead to constitutive activation of Wnt signaling, have recently been described in adrenocortical adenomas (AA) and carcinomas (ACC). However, somatic CTNNB1 mutations may explain only about 50% of ß-catenin accumulation observed in adrenocortical tumors, indicating that other components of the Wnt pathway may be involved. OBJECTIVE: The objective of the study was to investigate whether alterations in AXIN2 may be present in adrenocortical tumors. METHODS: We studied 49 human adrenocortical samples: 30 AA, six ACC, five primary pigmented nodular adrenocortical disease five ACTH-independent macronodular adrenal hyperplasias (AIMAH), and three ACTH-dependent hyperplasias in addition to the human ACC cell lines SW13 and H295R. Samples were screened for somatic genetic alterations in exon 3 of CTNNB1 and exons 5, 7, and 9 of AXIN2. RESULTS: We found an in-frame, 12-bp deletion beginning at coding nucleotide 2013 in exon 7 of the AXIN2 gene, c.2013_2024del12 (p.Arg671_Pro674del), in two of 30 AA (7%), one of six ACC (17%), and the ACC H295R cell line. Immunohistochemistry revealed that tumors with AXIN2 genetic defects showed nuclear/cytoplasmic accumulation of ß-catenin, indicating the activation of Wnt signaling. In addition, the ACC and H295R cells with AXIN2 deletion (c.2013_2024del12) harbored p.Ser45del and p.Ser45Pro CTNNB1 mutations, respectively. Two single-nucleotide polymorphisms were identified in exon 7 of AXIN2, c.2351C>T in 2 AA, and one AIMAH and c.2342A>G in an AIMAH tissue. CONCLUSION: The present study reports, for the first time, that AXIN2 genetic defects may be found in adrenocortical tumors. However, the functional consequence of this genetic alteration remains to be determined.
ISSN	0021972X
e-ISSN	19457197
Journal	The Journal of Clinical Endocrinology & Metabolism
Issue Number	9
Volume Number	96
Language	English
Publisher	Oxford University Press
Publisher Date	2011-09-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Adenoma Genetics Adrenal Cortex Neoplasms Axin Protein Carcinoma Metabolism Cell Line, Tumor Wnt Proteins Beta Catenin Research Support, Non-u.s. Gov't Discipline Endocrinology Discipline Metabolism
Content Type	Text
Resource Type	Article
Subject	Biochemistry (medical) Endocrinology, Diabetes and Metabolism Clinical Biochemistry Biochemistry Endocrinology

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