This webinar describes the optimization and validation of two commercially available clinical research next-generation sequencing assays. The first assay is aimed at identifying fusion transcripts and can identify novel fusion partners. The second assay is used to detect pharmacogenomic targets in cancers that have not responded to current standard treatment. This webinar focuses on sarcoma samples, but the approaches used are applicable to different cancer types including other solid tumors and hematological malignancies.

Dr. George Charames, Co-Head of the Advanced Molecular Diagnostics Laboratory at Mount Sinai Hospital in Toronto, shares how his team implemented these two NGS assays for the assessment of sarcoma samples. Dr. Charames discusses a fusion panel that is capable of identifying known and novel fusion gene transcripts. He also describes the use of a sequencing panel, which his team uses to examine sarcoma tumor DNA for putative pharmacogenomic targets, thereby potentially expanding treatment options for patients.

Sarcomas represent a heterogeneous group of malignant neoplasms of mesenchymal tissue. The accurate assessment of these tumors is imperative for understanding of these rare diseases. However, this can frequently be challenging because of the rarity of these neoplasms, the fact that tumors often display ambiguous and/or overlapping histomorphologies and non-specific immunophenotypes, and limited tissue sample methods (e.g., needle core biopsies).

Therapeutic options for sarcoma patients are, at best, modest in benefit, and follow a one-size-fits-all approach. As a result, there has been little improvement in patient outcome over the past 20 years. The application of NGS clinical research assays have the potential to revolutionize the diagnosis and treatment of sarcomas.