DDIT3 (CHOP) (12q13) gene rearrangement

CMDL > DDIT3 (CHOP) (12q13) gene rearrangement
Intended Use: DDIT3 (CHOP) (12q13) gene rearrangement
Myxoid/round cell liposarcoma (MRCLS) is the most common liposarcoma with an increased incidence in the extremities. Compared to other liposarcomas, MRCLS has a greater tendency for metastasis. It is characterized by the reciprocal translocation t(12;16)(q13;p11) which is present in up to 95% of cases. The resulting FUS-DDIT3 fusion protein has oncogenic potential and interferes with adipogenic differentiation. A paralog of FUS with high sequence homology is the EWS RNA Binding Protein 1 (EWSR1). EWSR1 is an alternative translocation partner of DDIT3 and the resulting fusion protein EWSR1-DDIT3, originating from t(12;22)(q13;q12). DDIT3 rearrangements are highly specific for MRCLS due to the presence of FUS-DDIT3 or EWSR1-DDIT3 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 DDIT3 (CHOP) (12q13) gene rearrangement status.

Resources

Sample Reports

  • Enhanced Report
  • See report