Ewing Sarcoma: Molecular Pathogenesis, Diagnosis, and Emerging Therapeutic Targets

This NEJM review covers the biology and management of Ewing sarcoma, characterized by EWSR1-FLI1 and related gene fusions. For diagnostic labs, accurate detection of these pathognomonic translocations by FISH or RT-PCR remains the cornerstone of diagnosis, with emerging roles for NGS-based fusion panels in ambiguous cases and liquid biopsy for disease monitoring.