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FLI1/EWSR1 Translocation, Dual Fusion

Applications
pathology
Catalogue Numbers
LPS 007 (10 tests)
LPS 007-S (5 tests)

Ewing's sarcoma (EWS) is the second most frequent primary bone cancer in patients under 20 years of age1.

It is mainly characterised by a translocation between the two genes - EWSR1 (Ewing's Sarcoma Region 1) and FLI1 (Friend Leukaemia virus Integration 1) - in the t(11;22)(q24;q12) translocation, found in 83% of such tumours2. 10% of the remaining cases have a variant translocation involving EWSR1 and ERG, t(21;22)(q22;q12), and less than 1% carry one of the 7p22 (ETV1), 17q12 (E1AF) or 2q36 (FEV) translocations with EWSR13.

EWSR1 is also involved in translocations in desmoplasmic small round cell tumours, a subset of angiomatoid fibrous histocytomas, and possibly in myxoid liposarcoma4,5.

The EWSR1 breakapart probe can also be used to distinguish rare soft tissue sarcoma, a clear cell sarcoma, from malignant myeloma, a distinction that is difficult to make via either histology or immunohistology. The EWS-ATF1 (Activating Transcription Factor 1) translocation, t(12;22) (q13;q12), has been identified in 70-90% of clear cell sarcoma yet has not been observed in malignant myeloma6. This translocation can be detected using the EWSR1 breakapart probe.

FISH has been shown to be a more sensitive and reliable method than RT-PCR for the diagnosis of EWS in solid tissues7.

References

1. Bernstein M et al., Oncologist 2006;11(5):503-19

2. Turc-Carel C et al., Cancer Genet Cytogenet 1988;32:229-38

3. Suárez Antelo et al., Arch Bronconeumol. 2010;46(01):44-6

4. Borden EC et al., Clin Canc Res 2003;9:1941-56

5. Sandberg AA, Bridge JA, Cancer Genet Cytogenet 2000;123(1):1-26

6. Patel RM et al., Modern Path 2005;18:1585-90

7. Bridge RS et al., Modern Path 2006;19:1-8

Microscope Images

FLI1 EWSR1 Translocation Dual Fusion magnified
Area of Interest*
Sarcoma

Disclaimer

This product is intended to be used on formalin-fixed paraffin-embedded (FFPE) tissues.

*Disease information supported by the literature and is not a reflection of the intended purpose of this product.