Abstract
Ewing sarcoma is a highly aggressive round cell mesenchymal neoplasm, most often occurring in children and young adults. At the molecular level, it is characterized by the presence of recurrent chromosomal translocations. In the last years, next-generation technologies have contributed to a more accurate diagnosis and a refined classification. Moreover, the application of these novel technologies has highlighted the relevance of intertumoral and intratumoral molecular heterogeneity and secondary genetic alterations. Furthermore, they have shown evidence that genomic features can change as the tumor disseminates and are influenced by treatment as well. Similarly, next-generation technologies applied to liquid biopsies will significantly impact patient management by allowing the early detection of relapse and monitoring response to treatment. Finally, the use of these novel technologies has provided data of great value in order to discover new druggable pathways. Thus, this review provides concise updates on the latest progress of these breakthrough technologies, underscoring their importance in the generation of key knowledge, prognosis, and potential treatment of Ewing Sarcoma.
Highlights
Ewing sarcoma (ES) is a bone and soft tissue neoplasia, mainly occurring in children and young adults. It is characterized by a chromosomal translocation generating a driver fusion gene between the gene EWSR1 (Ewing Sarcoma Breakpoint Region 1) and one gene from the E26 transformation-specific or E-twenty-six (ETS) family (FLI1 in most of the cases), with few other genomic alterations
The results showed that NanoString assay was 100% concordant with RT-PCR
This approach shortens the turnaround time and reduces the reagent cost per sample compared with conventional techniques, and could serve as a first-line clinical diagnostic test for sarcoma gene fusions (GFs) identification, replacing multiple single plex assays
Summary
Ewing sarcoma (ES) is a bone and soft tissue neoplasia, mainly occurring in children and young adults. The study cohort comprised 212 cases, 96 of which showed fusion gene expression by the NanoString assay, including all 20 ES, 11 synovial sarcomas, and 5 myxoid liposarcomas. The highest diagnostic coverage was obtained for ES, synovial sarcoma, myxoid liposarcoma, alveolar rhabdomyosarcoma, and desmoplastic small round cell tumor This approach shortens the turnaround time and reduces the reagent cost per sample compared with conventional techniques, and could serve as a first-line clinical diagnostic test for sarcoma GF identification, replacing multiple single plex assays. When CD99 IHC is negative or weak and/or the EWSR1 FISH test does not provide clear results, NanoString methodology is presented as the pertinent diagnostic tool This multiplex technology allows the detection of ES harboring GFs that involves FUS and non-FET genes.
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