Probes: EWSR1 (22q12)
Disease(s): Ewing sarcoma, primitive neuroectodermal tumor (PNET)
This EWSR1 break-apart FISH test is for diagnostic confirmation and classification of tumors diagnosed or suspected to be Ewing sarcoma/primitive neuroectodermal tumor (ES / PNET) based on morphology or immunohistologic studies. EWSR1 translocations are the hallmark and pathognomic molecular findings of Ewing sarcoma (almost all ES) and "Ewing-like sarcoma". EWSR1 rearrangement partners will not be identified by this FISH test. For that purpose, please see the NGS Sarcoma Fusion Profile which may be ordered separately or as a reflex after positive FISH.
- Bone marrow aspirate: N/A
- Peripheral blood: N/A
- Fresh, unfixed tissue: N/A.
- Fluids: N/A
- Paraffin block: Send paraffin block. Also send circled H&E slide for tech-only (required)
- Cut slides: H&E slide (required) plus 4 unstained slides cut at 4-5 microns. Circle H&E slide for tech-only
Refrigerate specimen. Do not freeze. Use cold pack for transport, making sure cold pack is not in direct contact with specimen.