Adrenal

In a study performed in collaborations with Yale University, and which was published in Science in 2011, breakthrough of genetic knowledge of adrenal tumours was initiated. A mutation in KCNJ5, an ion channel, was noted in approximately 45% of tumours. Further, we have revealed mutations in CACNA1D in a subset of these tumours as well, and in the cortisol-producing tumours in PRKACA. We are currently looking at differences between benign and malignant adrenal tumours, also on the epigenetic level.

The most common cause for secondary hypertension is primary aldosteronism, and to find proper prevalence we have screened 1200 individuals with hypertension in primary care. We found that 4,5% of this cohort have primary aldosteronism, which now have given the patients possibility to targeted treatment (surgery or medical treatment). We are aiming for identification of novel biomarkers for this disease, in peptides and in microRNA, as well as the pattern of steroids. Moreover, we are with individuals from this cohort also evaluating the role of 18F-CETO-PET/CT in the diagnostic work-up for primary aldosteronism.

Malignant adrenocortical tumours (ACC) are being investigated for molecular genetic signatures, as well as development of new mutations with time, and within different areas in the same tumour.