Detection of PAX3/PAX7-FKHR fusion transcript in rhabdomyosarcoma by one-step RT-PCR

Objective: To detect the PAX3-FKHR and PAX7-FKHR fusion transcripts in formalin-fixed, paraffin-embedded rhabdomyosarcoma tissues by one-step RT-PCR and discuss its diagnostic potential.

Methods: One-step RT-PCR were used to detect the expression of the PAX3-FKHR and PAX7-FKHR fusion transcripts in 15 cases of rhabdomyosarcoma (6 cases of ARMS, 9 cases of ERMS and 1 case of PRMS) and 15 cases of non-rhabdomyosarcomous small round cell tumor.

Results: PAX3-FKHR and PAX7-FKHR fusion transcripts were positive in 3/6 and 1/6 of ARMS patients, respectively, and were all negative in ERMS, PRMS and Control tumors including 4 cases of synovial sarcoma,4 cases of Ewing's sarcoma,4 cases of lymphoma and 3 cases of neuroblastoma.

Conclusions: Expression of PAX3-FKHR and PAX7-FKHR fusion transcripts detected by one-step RT-PCR is useful in diagnosis and classification of rhabdomyosarcoma.