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This Article IMMEDIATE FREE ACCESS ARTICLE OA Free Full Text Full Text (PDF) Supplementary Data OA All Versions of this Article: ERC-08-0072v1 15/3/777    most recent Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Google Scholar Articles by Margetts, C. D E Articles by Maher, E. R PubMed PubMed Citation Articles by Margetts, C. D E Articles by Maher, E. R

¹ Department of Medical and Molecular Genetics, Institute of Biomedical Research² Cancer Research UK Renal Molecular Oncology Research Group, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT, UK³ Hereditary Endocrine Cancer Group, Department of Human Genetics, Centro Nacional de Investigaciones Oncologicas, and ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain⁴ The Tumour Bank, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales 2145, Australia⁵ Department of Nephrology, Albert-Ludwigs-University, Freiburg, Germany

(Correspondence should be addressed to E R Maher; Email: e.r.maher{at}bham.ac.uk)

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The molecular genetics of inherited phaeochromocytoma have received considerable attention, but the somatic genetic and epigenetic events that characterise tumourigenesis in sporadic phaeochromocytomas are less well defined. Previously, we found considerable overlap between patterns of promoter region tumour suppressor gene (TSG) hypermethylation in two neural crest tumours, neuroblastoma and phaeochromocytoma. In order to identify candidate biomarkers and epigenetically inactivated TSGs in phaeochromocytoma and neuroblastoma, we characterised changes in gene expression in three neuroblastoma cell lines after treatment with the demethylating agent 5-azacytidine. Promoter region methylation status was then determined for 28 genes that demonstrated increased expression after demethylation. Three genes HSP47, homeobox A9 (HOXA9) and opioid binding protein (OPCML) were methylated in >10% of phaeochromocytomas (52, 17 and 12% respectively). Two of the genes, epithelial membrane protein 3 (EMP3) and HSP47, demonstrated significantly more frequent methylation in neuroblastoma than phaeochromocytoma. These findings extend epigenotype of phaeochromocytoma and identify candidate genes implicated in sporadic phaeochromocytoma tumourigenesis.