LOINC display name : t(11;22)(q24;q12.2)(FLI1,EWSR1) and t(21;22)(q22.3;q12.2)(ERG,EWSR1) fusion transcript
Molgen Doc (Bld/Tiss);
LOINC long common name : t(11;22)(q24;q12.2)(FLI1,EWSR1) and t(21;22)(q22.3;q12.2)(ERG,EWSR1) fusion transcript
in Blood or Tissue by Molecular genetics method;
LOINC short name : EWSR1-FLI1 EWSR1-ERG Bld/T;
LOINC description : Rearrangements of the EWSR1 gene at 22q12 with FLI1 at 11q24 or ERG at 21q22 collectively
occur in about 95% of Ewing sarcoma (EWS) and primitive neuroectodermal tumors (PNET),
both types of small round-cell tumors. The fusion transcripts can be detected by various
methods, including reverse transcriptase PCR and FISH. A positive result is consistent
with a diagnosis of EWS/PNET. A negative result does not rule out the presence of
fusion transcripts that may be present, but below the detection limit of an assay.;