Prognostic Implications of Acquired Genetic Changes in Uveal Melanoma

In the last decade, genetic research in uveal melanoma (UM) has shifted from primarily cytogenetic workups to extensive molecular genetic analyses. Despite progress that has been made in understanding the genetic framework of UM, this disease still carries high mortality and patient survival rates have remained unchanged. Advances have been made in the primary treatment of UM with more eye-sparing treatment modalities; however, for liver metastases no standardised therapies are available. Research efforts are directed at the identification of prognostic parameters to select those patients who develop metastasis. The past years we have learned increasingly more about the genes involved in UM tumourigenesis. Only a few years ago prognostication of UM patients was primarily done only by examining the histopathological or chromosome status of the tumour. Nowadays, we can predict the patient prognosis more accurate based on chromosome and gene mutation status. The work presented in this thesis aimed at further enlightening the genetic background of UM and thereby providing possible new targets for therapy. We studied the prognostic value of several new genes in UM including GNAQ, GNA11, BAP1, SF3B1 and EIF1AX.