Our first project was the sequencing of all genes (EKSOM) in 114 melanomas and normal samples from all patients. These data are now being published. The project is based at Haukeland University Hospital.
Malignant melanomas respond generally poor in systemic therapy. Despite new therapies, such as immunotherapy (Ipilimumab) and anti-BRAF therapy (Vemurafenib), which has yielded good results, prognosis for malignant melanoma remains bad.
We have therefore started large-scale genetic studies (exome sequencing) of patients who have been treated with DTIC monotherapy for metastatic malignant melanoma. The purpose is to compare the genetic changes found in tissue samples from patients with relatively good response to treatment with similar patients with poor response.
Preliminary data shows several genes which, when mutated, correlates statistically to both decreased survival and decreased response to DTIC treatment. Further work will focus on identifying which of these genes have a real biological function that can be linked to malignant and / or DTIC-resistant phenotype and therefore have potential as biomarkers. Data generated so far shows that there are variations within the same metastatic lesion in individual patients (intra-tumor heterogeneity), and that different metastases in the same patient may have very different genetic changes.