ForeSENTIA: Melanoma

The ForeSENTIA Melanoma panel tests for single nucleotide variants, insertions, deletions, copy number alterations, and rearrangements in 22 genes which are commonly found in melanomas. 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 and in 2020 there were more than 300,000 new cases diagnosed with melanoma. Factors such as environmental 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. Identification of mutations 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 FDA/EMA-approved drugs for melanoma, including vemurafenib.

This panel can optionally test for 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 FDA-approved drug pembrolizumab can be used as an immunotherapy option for melanoma patients with MSI-high status.