Comparative Analysis between Gene Expression Profile and Genomic Profile in Adrenocortical Carcinoma Samples

Authors

• FP Fortes
• LM Canto
• H Kuasne
• KC de Andrade
• SR Rogatto
• MI Achatz

Abstract

Li-Fraumeni syndrome (LFS) is an autosomal dominant disease arising primarily through germline TP53 mutations. LFS is present in 0.3% of the Brazilian population due to the occurrence of p.R337H TP53. Pediatric adrenocortical carcinoma (ADR) is 10-15 times more incident in p.R337H mutation carriers. The factors that lead to the development of ADR in some carriers while others carriers remain asymptomatic is unclear, therefore the aim of this study was to evaluate the copy number alterations (CNA) of ADR who were either positive (N=3) or negative (N=4) for p.R337H mutation, and to compare the results with global gene expression analysis. Analysis of CNA was evaluated by CytoScan HD Array (Affymetrix) and gene expression was evaluated by microarray (4x44K, Agilent Technologies). Genomic alterations that distinguished tumors that were positive for the p.R337H from those that were negative for it were identified using Fisher's exact test (p

Scientific Focus Area: Genetics and Genomics

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