EWSR1 (22q12) gene rearrangement

CMDL > EWSR1 (22q12) gene rearrangement
Intended Use: EWSR1 (22q12) gene rearrangement
EWS is typified by chromosomal translocations resulting in fusion genes between the EWS RNA Binding Protein 1 (EWSR1) and a member of the group of ETS transcription factors. t(11;22)(q24;q12) is the most common of these translocations represented by the EWSR1-FLI1 fusion gene with a frequency of about 85%. The EWSR1 part contributes a strong transcriptional domain while FLI1 is providing the ETS family DNA binding domain. The chimeric protein is dysregulating target genes leading to oncogenic transformation and is absolutely required for tumorigenesis in EWS. Other translocation partners are known, but no difference in survival has been observed between different fusion genes.
Specimen Required

Paraffin-embed tissue (3–4-micron thick sections in positively charged/silanized slides).

Patient Preparation
  • Sample collection: Tumor tissue (FFPE tissue block). Submit block/slides along with the corresponding Histopathology Report.
  • Specimen preparation: Formalin fix (10 percent neutral buffered formalin) and paraffin-embed tissue (3–4-micron thick sections). Fixative duration: 6-48 hours.
  • Storage/Transport Temperature: Room temperature. Protect paraffin block from excessive heat. Also acceptable: Refrigerated. Ship in cooled container during summer months.
  • Unacceptable Conditions: Paraffin block with no tumor tissue remaining. Specimens fixed in any fixative other than 10 percent neutral buffered formalin. Decalcified specimens. Specimens with fixation delayed for more than one hour. Tissue fixed or less than 6 hours of greater than 48 hours.
  • Remarks
  • Stability: Ambient: Indefinitely; Refrigerated: Indefinitely; Frozen: Unacceptable
Methodology

Fluorescence in situ Hybridization (FISH)

Sample received to report Turnaround time (TAT)

5 working days

Reference Interval

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Interpretive Data

The most recent WHO classification of Tumours of Hematopoietic and Lymphoid Tissues (Revised 5th edition) is used for interpretation criteria for evaluating EWSR1 (22q12) gene rearrangement status.

Resources

Sample Reports

  • Enhanced Report
  • See report