Detection of Desmoplastic Small Round Cell Tumor

3 Molecular Detection of Desmoplastic Small Round Cell Tumor 

The second but rare translocation associated with this tumor results the fusion of the above-mentioned EWS gene to the ERG gene on chromosome 21q22. The t(21 22)(q22 ql2) translocation generates the EWS-ERG fusion transcript, which is homologous to the fusion transcript found in Ewing s sarcoma. 

The t(ll 17)(pl3 qll.2) translocation is a third translocation described in rare cases of desmoplastic small round cell tumor. 

The detection of the above-described specific fusion transcripts for the desmoplastic small round cell tumor by RT-PGR can be used as molecular markers specific for this tumor, offering an accurate method to distinguish this tumor from other similar tumors, especially when the tumor occurs in an atypical location or shows an ambiguous immunophenotype. 

Method The method used is mRNA extraction from frozen or paraffin-embedded tissue or ENA cells, followed by RT-PGR. 

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