The NGS Ewing Fusion Profile is a targeted next-generation sequencing panel that can detect various translocations relevant in Ewing's sarcoma in the gene EWSR1.
Many different soft tissue sarcomas are characterized by the presence of a translocation involving the EWS gene. This test is designed to determine the partner gene in cases that have been determined to contain an EWS translocation by FISH studies. It will identify Ewing sarcoma/primitive neuroectodermal tumor (PNET) and six of its translocation variants, including all of the most common ones. It will also distinguish cases of EWS-translocation positive desmoplastic small round-cell tumor, clear cell sarcoma, Ewing-like bone sarcoma, myoepithelial tumor of soft tissue and bone, extraskeletal myxoid chondromsarcoma, myxoid/round cell liposarcoma, pulmonary myxoid sarcoma, and angiomatoid fibrous histiocytoma from Ewing sarcoma/PNET, and most often will allow distinction of these cases from one another. These studies are most useful for specific diagnosis, and identification of specific translocations may also be useful in determining therapy.
FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Use cold pack for transporting block during summer to prevent block from melting. Slides can be packed at room temperature.