EWSR1/ERG Translocation, Dual Fusion LPS008 - Detail

Ewing's sarcoma is the second most frequent primary bone cancer in patients below 20 years of age¹. It is characterized mostly by 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 85% of such tumours². Ten percent of Ewing's sarcoma cases have a translocation involving EWSR1 and ERG (t(21;22) (q22;q12)) and less than 1% of Ewing's sarcoma patients harbour each of the 7p22 (ETV1), 17q12 (E1AF) and 2q36 (FEV) translocations with EWSR1. EWSR1 is also involved in translocations in desmoplasmic small round cell tumour, a subset of angiomatoid fibrous histocytomas and possibly in myxoid liposarcoma^3,4. The EWSR1 breakapart probe can also be used to distinguish rare soft tissue sarcoma, a clear cell sarcoma from malignant myeloma which is hard to distinguish histologically and immunohistologically. EWS-ATF (Activating Transcription Factor) translocation t(12;22) (q13;q12) which never happens in the malignant myeloma, has been identified in 70% to over 90% of clear cell sarcoma⁵. FISH has been shown to be a more sensitive and reliable method than RT-PCR for the diagnosis of EWS in solid tissues⁶.

Reference:/Bibliographie/Literatur/Bibliografia

1. Bernstein M. et al. 2006 Oncologist 11(5):503-19
2. Turc-Carel C. et al. 1988 Canc Genet Cytogenet 32:229-238
3. Borden EC et al. 2003 Clin Canc Res. 9:1941-1956
4. Sandberg AA & Bridge JA 2000 Cancer Genet Cytogenet 123:1-26
5. Patel RM et al. 2005 Mod Path 18:1585-1590
6. Bridge RS et al 2006 Modern Pathology 19: 1-8