The diagnostic potential of the chromosome translocation t(2;13) in rhabdomyosarcoma: a Pcr study of fresh-frozen and paraffin-embedded tumour samples

J Pathol. 1996 Sep;180(1):50-7. doi: 10.1002/(SICI)1096-9896(199609)180:1<50::AID-PATH629>3.0.CO;2-C.


The chromosomal translocation t(2;13)(q35;q14) has been reported in alveolar paediatric rhabdomyosarcoma. The rearrangement leads to the juxtaposition of the PAX-3 and FORKHEAD genes and the production of a fusion protein with putative transcriptional regulatory activity. The diagnostic potential of this translocation has been examined using a reverse transcription polymerase chain reaction (RT-PCR) assay to detect translocations in both fresh-frozen and archival formalin-fixed, paraffin-embedded rhabdomyosarcoma. A total of 25 tumours and one cell line were examined. PAX-3-FORKHEAD chimeric mRNAs were amplified by PCR in 8 of 15 cases of alveolar rhabdomyosarcoma. Translocations were detectable in both fresh-frozen tissues (4 of 7) and paraffin-embedded tumours (3 of 7) and in the alveolar rhabdomyosarcoma cell line. Our study confirms that the t(2;13) translocation is not present in embryonal rhabdomyosarcomas, but can be detected in nearly half of alveolar rhabdomyosarcomas, whether fresh-frozen or paraffin-embedded. The PCR-based t(2;13) translocation assay can aid in the diagnosis of rhabdomyosarcoma, but cannot replace a careful histopathological evaluation. It may contribute in further characterizing an otherwise undifferentiated small cell tumour, where it may be indicative of clinical behaviour.

MeSH terms

  • Blotting, Southern
  • Child
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 2*
  • Cryopreservation
  • Diagnosis, Differential
  • Humans
  • Paraffin Embedding
  • Polymerase Chain Reaction
  • Rhabdomyosarcoma, Alveolar / diagnosis*
  • Rhabdomyosarcoma, Alveolar / genetics
  • Rhabdomyosarcoma, Embryonal / diagnosis*
  • Rhabdomyosarcoma, Embryonal / genetics
  • Translocation, Genetic
  • Tumor Cells, Cultured