81879-9LOINC 2.82
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
EWSR1-FLI1 + EWSR1-ERG Bld/T
Definition
- 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.
Component
- t(11;22)(q24;q12.2)(FLI1,EWSR1) & t(21;22)(q22.3;q12.2)(ERG,EWSR1) fusion transcript
Specimen / system
- Bld/Tiss
Class
- MOLPATH.TRNLOC
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- Blood; DNA; Document; Ewing sarcoma breakpoint region 1; Ewing sarcoma breakpoint region 2; EWS; EWSCR; EWSR1-FLI1 + EWSR1-ERG; EWSR2; Finding; Findings; Friend leukemia virus integration 1; gene fusion; gene translocation; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.TRANSLOCATION; PCR; Point in time; Random; RNA; SIC-1; T prime; t(11,22)(FLI1,EWSR1) gene translocation; t(11;22)(FLI1,EWSR1); t(21,22)(ERG,EWSR1) gene translocation; t(21;22)(ERG,EWSR1); Tissue; Tissue, unspecified; translocation; WB; Whole blood; Whole blood or Tissue
Index terms
- 22)(ERG,EWSR1)
- 22)(FLI1,EWSR1)
- Blood
- DNA
- Document
- Ewing sarcoma breakpoint region 1
- Ewing sarcoma breakpoint region 2
- EWS
- EWSCR
- EWSR1-FLI1 + EWSR1-ERG
- EWSR2
- Finding
- Findings
- Friend leukemia virus integration 1
- gene fusion
- gene translocation
- Genetics
- Heredity
- Heritable
- Inherited
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.TRANSLOCATION
- PCR
- Point in time
- Random
- RNA
- SIC-1
- T prime
- t(11
- t(11,22)(FLI1,EWSR1) gene translocation
- t(11;22)(q24;q12.2)(FLI1,EWSR1) & t(21;22)(q22.3;q12.2)(ERG,EWSR1) fusion transcript
- t(21
- t(21,22)(ERG,EWSR1) gene translocation
- Tissue
- Tissue, unspecified
- translocation
- WB
- Whole blood
1 further terms