Multiple genetic alterations have been identified in melanoma.
Therapy directed against mutations in the BRAF gene acts on the genetic or molecular changes that promote growth, division and spread of cancer cells. Currently, vemurafenib and dabrafenib (BRAFV600 inhibitors) in combination with other drugs that inhibit MEK have been approved for the treatment of advanced melanoma. These treatments are very active against melanomas with BRAF mutations, although this does not last indefinitely.
In recent years, a great benefit has been achieved with the use of immunotherapy such as Yervoy (ipilimumab), Opdivo® (nivolumab) and Keytruda® (pembrolizumab). These are monoclonal antibodies that are administered in intravenous fluids during an outpatient appointment, and can achieve
long-lasting responses to treatment. These treatments have already achieved long-lasting (several years) remissions in very advanced melanomas.
Immunothearpy is currently one of the most interesting areas in oncology, since it offers the possibility to extend these favorable results to other patients via combination therapy. This is being investigated in clinical trials.
To have a genetic diagnosis of treatable alterations in melanoma, in addition to traditional tissue biopsy, the possibility of determining these mutations through a simple blood test, or
"liquid biopsy", is particularly interesting. We are currently conducting clinical trials in our center in collaboration with the Spanish Melanoma Group (GEM).