NeoThetis: Melanoma

Melanoma is a malignant type of skin cancer that arises from cells in the skin, the melanocytes. It is the 17th most common type of cancer worldwide. In 2020, there were more than 300,000 new cases diagnosed with melanoma. Factors such as environment and inheritance can increase the risk of developing melanoma. Accumulation of genetic alterations (mutations) in the DNA can result in melanoma initiation and development. Mutations in genes, including BRAF, NRAS and others, are frequently found in patients with melanoma. This panel identifies the genetic mutations in 28 genes in the circulating tumour DNA, released from these tumours, which can have huge potential and can provide the necessary information about the genetic characteristics of the tumour, therefore having a prognostic and therapeutic value. Personalised medicine tailored to each patient can be beneficial for increasing the chances of melanoma treatment depending on the unique mutations in each cancer patient. Indeed, over the last decade novel personalised therapeutic opportunities have been developed, and currently, there are different /-approved drugs for melanoma, including vemurafenib.

This panel also tests for the microsatellite instability (MSI) immunotherapy biomarker. Studies show that MSI is frequently found in melanoma patients and can be a predictive factor for identifying patients who might respond to immunotherapy. The approved drug pembrolizumab can be used as an immunotherapy option for melanoma patients with MSI-high status.