Study Findings May Pave Way to Earlier Diagnosis of Ewing Sarcomas
New data suggest aggressive Ewing sarcomas originate with a sudden burst of complex, loop-like genomic rearrangements (chromoplexy) that occurs at least a year before the primary tumor is diagnosed. The chromoplexy causes EWSR1-ETS gene fusions characteristic of Ewing sarcoma and several other genetic disruptions. Conclusions were based on whole-genome sequencing of primary tumors from 124 children with Ewing sarcoma. Researchers found evidence of chromoplexy in 42% of the samples. Chromoplexy was associated with a worse prognosis and an increased risk of relapse. The researchers also determined that metastatic Ewing sarcoma tumors diverge from the primary tumor early and have genetically distinct mutations. The team found signs of chromoplexy in 3 other types of bone or soft-tissue malignancies. More research is needed to determine whether an event drives the chromoplexy or if it occurs spontaneously. The findings may lead to earlier methods of detecting Ewing sarcoma.
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Anderson ND, de Borja R, Young MD, et al. Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors. Science. 2018;361(6405). pii: eaam8419. doi: 10.1126/science.aam8419.