Detection and clinical significance of bone marrow involvement in patients with rhabdomyosarcoma
BACKGROUND MyoD1 and myogenin are differentially expressed in early myogenesis and have been identified in rhabdomyosarcoma (RMS). This study evaluates reverse transcriptase-polymerase chain reaction (RT-PCR) for MyoD1 and myogenin mRNA as diagnostic markers of RMS, and the potential application of this method for the detection of small volume disease in bone marrow (BM) and peripheral blood (PB). PROCEDURE Expression of MyoD1 and myogenin mRNA was examined by RT-PCR in RMSs (9 alveolar RMS, 10 embryonal RMS, 1 pleomorphic RMS), and 21 other paediatric tumor samples (10 neuroblastoma, 10 Ewing sarcomas, and 1 Sarcoma (not otherwise specified) (S(NOS)). BM (n = 19) and PB (n = 22) samples from the same RMS study population were also examined for MyoD1 and myogenin mRNA expression. RESULTS Positive expression of both markers was demonstrated in adult muscle, but not in normal PB. Myogenin mRNA was expressed in 16/18 and MyoD1 mRNA in 12/12 RMSs studied. Myogenin was not expressed in 10/10 neuroblastomas, but was present in 2/10 Ewing sarcomas. However, MyoD1 mRNA was detected in 10/10 Ewing sarcomas and 7/10 neuroblastomas. Myogenin mRNA was detected in two BM samples from children with histologically negative BM and in 1/22 PB samples. Detection of MyoD1 mRNA in BM and PB was compromised by the amplification of a similar sized, non-specific product. CONCLUSIONS Myogenin mRNA is a more specific marker than MyoD1 for the diagnosis of RMS. Myogenin mRNA is potentially a useful target for the assessment of small volume disease in RMS.