Moving Forward Together

After a presentation showcasing the capabilities of optical genome mapping (OGM) in oncology and cell therapy, the upcoming session will feature two invited speakers who will demonstrate the utility of OGM in the field of cancer research.

Dr. Juan Díaz-Martín, PhD (IBiS, Spain) will present a study where OGM was used to comprehensively characterize SVs and detect alterations associated with clinical features on undifferentiated small round cell sarcomas, including Ewing sarcoma (ES) and related entities. These highly aggressive neoplasms primarily affect children and adolescents, and patients who experience relapse have a poor survival rate. Consequently, there is a need for prognostic markers to identify individuals at risk. Recent reports, along with previous studies, have indicated that genomic structural variants (SVs) such as chromoplexy/chromothripsis, copy number alterations, and aneuploidy significantly impact disease outcomes. Aim of this study is to validate OGM as a molecular ancillary test for mesenchymal malignancies, including ES.

Dr. Marc-Henri Stern, MD, PhD (Institut Curie, France) will present a study on triple-negative breast cancer (TNBC) where OGM was used to detect translocations and structural variations (SVs) missed by WGS. Additionally, OGM identified structural variations (SVs) in low-tumor-content samples that remained undetected by WGS. These findings suggest that OGM enables the characterization and stratification of Homologous Recombination Deficiency (HRD) in breast tumor samples.