Endocrine tumour biology
We focus on clinical and biological aspects of rare endocrine diseases, such as adrenocortical cancer and neuroendocrine tumours with special emphasis on the multiple endocrine neoplasia type 1 syndrome (MEN1). We try to understand the basic mechanisms causing these diseases, and perform clinical trials in order to evaluate treatment regiments. As being part of the Uppsala Centre of Excellence for Neuroendocrine Tumors, a national referral centre, we are in a good position to translate our results and experiences into new and better clinical practise.
Carriers with mutations in the gene MEN1 develop multiple tumours of the parathyroids, endocrine pancreas and pituitary. MEN1 is thought to be a tumour suppressor gene, but it is unclear why MEN1 inactivation leads to tumour formation only in some endocrine organs. We try to address this question through analyses of the consequences of MEN1 inactivation, and through studies of other factors that may interact with MEN1. In our experimental studies we use contemporary cell- and molecular techniques, as well as animal models and tissue samples from patients. Through our collection of clinical data and materials from some 60 MEN1 families, we can convert our basics studies to clinical practise, for example through prospective clinical trials.
Our second research area concerns adrenocortical carcinoma, an aggressive cancer with poor prognosis. In order to evaluate existing treatment options, we have initiated and, together with several collaborators, conducted a randomized clinical trial (FIRM-ACT). The study, involving more than 300 patients, has recently been completed, and the results will shortly be at hand.