SCIENTIFIC BACKGROUND

AKT1, ALK, BRAF, CTNNB1, ERBB2, FGFR1, FGFR2, FGFR3, GNA11, GNAQ, KIT, KRAS, MAP2K1, MET, MYC, NF1, NRAS, NTRK1, NTRK2, NTRK3, PDGFRA, PIK3CA, POLE, PTEN, RET, ROS1, STK11, TP53

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Scientific Background

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 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 found in circulating tumor DNA, which is released from these tumors, can have huge potential and can provide the necessary information about the genetic characteristics of the tumor, therefore having a prognostic and therapeutic value. Personalized 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 personalized therapeutic opportunities have been developed and currently, there are different FDA/EMA approved drugs for melanoma including vemurafenib.

 

This panel also 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.

 

How many genes are tested in this panel?

28 genes

 

References and more information: 

 

Information obtained from professional bodies including National Cancer Institute, and World Cancer Research Fund International

Kubeček O, Kopecký J. Microsatellite instability in melanoma: a comprehensive review. Melanoma Res. 2016 Dec;26(6):545-550. doi: 10.1097/CMR.0000000000000298. PMID: 27623135.

Alvino E, Passarelli F, Cannavò E, Fortes C, Mastroeni S, Caporali S, Jiricny J, Cappellini GC, Scoppola A, Marchetti P, Modesti A, D'Atri S. High expression of the mismatch repair protein MSH6 is associated with poor patient survival in melanoma. Am J Clin Pathol. 2014 Jul;142(1):121-32. doi: 10.1309/AJCPCX2D9YULBBLG. PMID: 24926095.

GENES

AKT1, ALK, BRAF, CTNNB1, ERBB2, FGFR1, FGFR2, FGFR3, GNA11, GNAQ, KIT, KRAS, MAP2K1, MET, MYC, NF1, NRAS, NTRK1, NTRK2, NTRK3, PDGFRA, PIK3CA, POLE, PTEN, RET, ROS1, STK11, TP53
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