Endocrine Abstracts

Adrenocortical carcinoma (ACC) is a rare endocrine cancer with a poor prognosis. Roughly 10–15% of all ACCs arise in patients with a predisposition to cancer development due to a germline mutation. Pediatric ACC is a well-described core malignancy of the Li Fraumeni syndrome tumour spectrum. More recently TP53 mutations have also been found in adult ACC patients. In addition recent advances in clinical and molecular genetics have identified additional familial ca...

Steroidogenic factor-1 (SF-1, NR5A1) is a transcription factor that plays an essential role in the development of adrenal glands and gonads. Multiple level regulation of SF-1 activity is exerted by interaction with cofactors, post-translational modifications and epigenetic gene expression regulation. Our studies involving both cell lines and transgenic mouse studies showed that an increased SF-1 dosage activates adrenocortical cell proliferation and causes adrenocortical neopl...

MicroRNA (miRNA) are small RNA molecules involved in the posttranscriptional regulation of gene expression. Differential expression of miRNA has been described in several tumours. miRNA expression patterns can be used as markers of malignancy, as prognostic markers and even for the subclassification of tumours. miRNA markers can be especially useful for the diagnosis of tumours whose histological analysis is difficult such as adrenocortical cancer (ACC). Beside tissue miRNA, m...