Abstract | OBJECTIVES: PATIENTS AND DESIGN: Forty-four patients with verified Cushing's disease or Nelson's syndrome, positive ACTH staining and tissue available for immunohistochemistry and/or DNA sequencing were included. Ninety-four controls were chosen from the Norwegian Bone Marrow Registry. RESULTS:
Histone deacetylase 2 expression examined by immunohistochemistry was strongly reduced in 3/30 adenomas. There were no association between HDAC2 expression and clinical variables. A previously unidentified insertion of three bases in a region coding for a polyserine cluster in exon 1 of the HDAC2 gene was identified in 6/32 adenomas. No other mutations in HDAC2 exons were found. Examination of DNA extracted from peripheral blood confirmed germ-line origin of the exon 1 insertion. The same insertion was also found in 28/94 of the controls (i.e., not significantly different from the patients). CONCLUSIONS: Strongly reduced HDAC2 protein expression was confirmed in a small portion of corticotroph tumours. Mutations in HDAC2 exons are unlikely to play an important role in the development of corticotroph adenomas.
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Authors | J Arild Evang, Olivera Casar Borota, Espen Melum, Ruth Holm, Jon Ramm-Pettersen, Jens Bollerslev, Jens P Berg |
Journal | Clinical endocrinology
(Clin Endocrinol (Oxf))
Vol. 73
Issue 2
Pg. 229-35
(Aug 2010)
ISSN: 1365-2265 [Electronic] England |
PMID | 20346000
(Publication Type: Journal Article)
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Chemical References |
- HDAC2 protein, human
- Histone Deacetylase 2
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Topics |
- ACTH-Secreting Pituitary Adenoma
(genetics, metabolism, pathology)
- Adenoma
(genetics, metabolism, pathology)
- Adolescent
- Adult
- Aged
- Case-Control Studies
- Exons
(genetics)
- Female
- Gene Expression Regulation, Neoplastic
- Histone Deacetylase 2
(genetics, metabolism)
- Humans
- Male
- Middle Aged
- Minisatellite Repeats
(genetics)
- Sequence Analysis, DNA
- Young Adult
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