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Context .  IGF1R  overexpression appears to be a prognostic biomarker of metastatic pediatric adrenocortical tumors. However, the molecular mechanisms that are implicated in its upregulation remain unknown.  Aim . To investigate the potential mechanisms involved in  IGF1R  overexpression.  Patients and Methods . We studied 64 adrenocortical tumors.  IGF1R  copy number variation was determined in all patients using MLPA and confirmed using real time PCR. In a subgroup of 32 patients, automatic sequencing was used to identify  IGF1R  allelic variants and the expression of microRNAs involved in  IGF1R  regulation by real time PCR.  Results .  IGF1R  amplification was detected in an adrenocortical carcinoma that was diagnosed in a 46-year-old woman with Cushing's syndrome and virilization.  IGF1R  overexpression was demonstrated in this case. In addition, gene amplification of other  loci  was identified in this adrenocortical malignant tumor, but no  IGF1R  copy number variation was evidenced in the remaining cases. Automatic sequencing revealed three known polymorphisms but they did not correlate with its expression. Expression of miR-100, miR-145, miR-375, and miR-126 did not correlate with  IGF1R  expression.  Conclusion . We demonstrated amplification and overexpression of  IGF1R  gene in only one adrenocortical carcinoma, suggesting that these combined events are uncommon. In addition,  IGF1R  polymorphisms and abnormal microRNA expression did not correlate with  IGF1R  upregulation in adrenocortical tumors.

biomed research international

Amplification of the<i>Insulin-Like Growth Factor 1 Receptor</i>Gene Is a Rare Event in Adrenocortical Adenocarcinomas: Searching for Potential Mechanisms of Overexpression

Amplification of theInsulin-Like Growth Factor 1 ReceptorGene Is a Rare Event in Adrenocortical Adenocarcinomas: Searching for Potential Mechanisms of Overexpression