Table 4.
Test | Evidencea of Translocation in Primary Tumor, N/No. Tested (%) | Evidencea of Translocation in Metastasis, N/No. Tested (%) |
---|---|---|
FISH | 211/236 (89.4) | 21/31 (67.7) |
RT-PCR | 48/61 (78.7) | 10/13 (76.9) |
Cytogenetics/karyotype | 17/26 (65.4) | 4/8 (50.0) |
Next-generation sequencing | 5/7 (71.4) | 1/3 (33.3) |
Abbreviations: FISH, fluorescence in situ hybridization; RT-PCR, reverse transcription–polymerase chain reaction.
FISH was considered to have evidence of a molecular diagnosis of Ewing sarcoma if it showed EWRS1 or FUS rearrangement. RT-PCR and next-generation sequencing were considered to have evidence of molecular diagnosis of Ewing sarcoma if they showed EWSR1 or FUS translocated with an ETS family member. Cytogenetics/karyotype was considered to have evidence of molecular diagnosis of Ewing sarcoma if a translocation was identified that was consistent with EWSR1 or FUS translocated with an ETS family member.