Using Optical Genome Mapping and NGS to Understand Epitheliod Sarcoma in a Pediatric Patient
Authors: So Hyeon Park, Roy Khalife, Anthony Magliocco
Journal: Pediatric Blood & Cancer | ASPHO 2022
Publisher: WILEY
Here we are presenting a unique approach to diagnose and treat pediatric epithelioid sarcoma, a rare and commonly misdiagnosed soft-tissue tumor.
Combining traditional next generation sequencing with optical genome mapping presents a robust picture of the precise genomic alterations. Evidence of these specific structural alterations combined with immunohistochemistry provides clinically relevant variants for genetic disease, which can be utilized to identify actionable targets for therapy, and more optimal outcome for the patient.