In addition to other actions, work is being conducted on identifying biomarkers with blood and tissue samples that determine, precisely and as soon as possible, if a patient is susceptible to having cutaneous melanoma, and knowing what the illness’ prognosis is.
Studying cutaneous melanoma is one of the greatest scientific challenges in cancer research. The Basque public health system is contributing with its research to improve identification and treatment of cutaneous melanoma, which is the most aggressive form of skin cancer. To this end, it has researcher teams at different Osakidetza organisations which, in collaboration with other players, such as the University of the Basque Country/Euskal Herriko Unibertsitatea (UPV/EHU), aim to continue making progress in researching this illness.
Research projects on this illness are being carried out at the Biocruces Healthcare Research Institute (OSI Ezkerraldea-Enkarterri-Cruces) and the Biodonostia Healthcare Research Institute (OSI Donostialdea); doctors, biologists, chemists, physicists and mathematicians, along with other professionals, are working on these projects in a multi-disciplinary fashion.
The Biodonostia Molecular Oncology group is working on identifying and evaluating biomarkers to diagnose the illness, and on seeking out drug resistance factors and new therapeutic measures.
Thus, it analyses liquid biopsies from melanoma patients with three different approaches: discovering new RNA biomarkers in blood, specific detection of relevant DNA mutations in blood samples, and the development of a portable, fast, economic and easy-to-use device to detect DNA/RNA biomarkers in blood.
These projects are possible thanks to over 1,3000 plasma samples from melanoma patients that Biodonostia has received from different collaborators (Oxford University, University Hospital 12 de Octubre, University Hospital of Donostia and Onkologikoa).
In order to discover new biomarkers in blood, next-generation sequencing was conducted to detect the different kinds of RNA in plasma from healthy volunteers and from melanoma patients, comparing them. As a result of these experiments, genes were identified that are able to distinguish between different stages of melanoma, and between healthy and ill individuals, with a high degree of certainty. These results were validated in over 300 patient samples, and are currently under review for publication.
Moreover, it was verified that many melanomas have gene mutations, BRAF. Biodonostia uses a recently-implemented technique, called digital PCR in drops, to replace the tumour tissue with plasma samples in analysing the presence of said mutation
