The importance of molecular diagnosis in melanoma treatments

Melanoma is a malignant neoplasm of melanocytes that are responsible for the majority of skin cancer deaths. In the past years, its incidence has been increasing faster than expected due to some causes such as sun exposition, being the main cause of melanoma in some countries like Australia. Although some melanomas are detected in early stages, and they are cured with local excision, when the patient has progressed, metastatic melanoma carried a bad prognosis, with a medial survival of nine months and a long-term survival rate of 10%. So the urgency to find more suitable and effective treatments in more than necessary. Efforts have focused on the genetic changes that drive melanoma metastasis, that could lead to potential new targets to the new drugs been focused on.

What it has been seen in melanoma patients, is that approximately one-half of advanced melanomas have a mutation in the BRAF gene, being the most common mutation V600E. Targeted therapy with BRAF and MEK inhibitors is associated with significant long-treatment benefit in patients with BRAF V600 mutated melanoma. Reasons why in some protocols is used as an inclusion criteria the determination of the expression levels of these type of genes, in the biopsy tissue.

An important improvement in the treatment of patients with advanced-stage melanoma has occurred with the addition of checkpoint inhibitors. Further improvements in overall survival will occur with the inclusion of targeted therapy with immunotherapy, either in sequence or in combination. It is important that the BRAF mutation status in a patient will be promptly and accurately determined at the time of the initial diagnosis, because is the only one considered as a reliable predictive biomarker that could have an important impact in the treatment of advanced melanoma. VE1 immunostaining for the detection of BRAF-mutated protein is a quick and low cost test that can be combined with other melanoma biomarkers. However, since the only mutation that can be detected with the VE1 antibody by IHC is the most common V600E mutant, the presence or absence of other mutations is not determined by this diagnostic test; therefore, evaluation using DNA-based methods, such as the FDA-approved companion diagnostic tests, is still needed.

In ALTHIAN, we have protocols that are using immunotherapy to treat melanoma. And as you saw in paragraphs above, it is important the determination of the subject mutation status in order the system can assign the correct treatment. We have experience managing this type of protocols; and we now the importance to generate reliable data by following every step of the protocol. Contact us for further information, you will not regret it.