81879-9

LOINC 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