THE DIAGNOSTIC POTENTIAL OF THE CHROMOSOME TRANSLOCATION t(2;13) IN RHABDOMYOSARCOMA: A PCR STUDY OF FRESH-FROZEN AND PARAFFIN-EMBEDDED TUMOUR SAMPLES
✍ Scribed by REICHMUTH, C.; MARKUS, M. A.; HILLEMANNS, M.; ATKINSON, M. J.; UNNI, K. K.; SARETZKI, G.; HÖFLER, H.
- Book ID
- 102647690
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 808 KB
- Volume
- 180
- Category
- Article
- ISSN
- 0022-3417
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✦ Synopsis
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.