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

The Journal of Pathology
C ReichmuthH Höfler

Abstract

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 undiffe...Continue Reading

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Citations

Apr 6, 2006·Proteome Science·Mark Abramovitz, Brian Leyland-Jones
Jun 5, 2003·Journal of Clinical Pathology·N J Sebire, M Malone
Apr 22, 2008·BMC Medical Genomics·Andrea OberliRolf Jaggi
Jun 22, 2006·Annals of Surgical Oncology·Shinsuke WadaKatsunobu Kawahara
May 5, 2007·Virchows Archiv : an International Journal of Pathology·Matthias FrankMartin-Leo Hansmann
Aug 26, 2009·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Erinn Downs-KellyJohn R Goldblum
Jun 14, 2005·Laboratory Investigation; a Journal of Technical Methods and Pathology·Janine AntonovRolf Jaggi
Apr 12, 2006·Laboratory Investigation; a Journal of Technical Methods and Pathology·Jun NishioJulia A Bridge
Jun 26, 2003·Histopathology·J M Coindre
Dec 18, 2007·Archives of Pathology & Laboratory Medicine·Fabiola MedeirosKevin C Halling

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