July 20, 2017
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Characterization of Gene Fusions in Distinct Subtypes of Melanoma


Research Instructor, Cutaneous Oncology Program,
Division of Medical Oncology, Department of Medicine,
University of Colorado Anschutz Medical Campus

Director, Technical Support, NuGen

This webinar describes the characterization of gene fusions across distinct subtypes of melanoma.

The majority of common sun exposure-related melanomas have high mutational burden and activating mutations in the BRAF kinase gene. In contrast, less common subtypes of melanoma not related to sun exposure (acral lentiginous and mucosal melanomas) have low mutation burden, generally lack BRAF mutations, and have increased frequency of genomic structural variants. Activating gene fusions in BRAF have been reported in melanomas lacking mutations in BRAF and other common melanoma driver genes, but gene fusions and their therapeutic potential have not been well studied across different subtypes of melanoma.

To characterize gene fusions, Kasey Couts and colleagues at the University of Colorado Anschutz Medical Campus performed targeted RNA sequencing of 65 melanoma patient-derived xenograft (PDX) models representing different melanoma subtypes (sun-exposed and non-sun-exposed) and genotypes (with or without common driver mutations). They identified several kinase gene fusions in melanomas lacking other driver mutations and tested the therapeutic potential in pre-clinical models using specific small molecule inhibitors.

During this webinar, Dr. Couts describes the gene fusion targeted RNA sequencing screen and discuss the results, which include identification of an ALK fusion (EML4-ALK) occurring in a malignant melanoma. She also discusses the successful response to targeted inhibitors in melanomas with various kinase fusions. This webinar highlights the clinically significant finding of targetable gene fusions in both sun-exposed and non-sun-exposed subtypes of melanoma.

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