title: The diagnostic potential of the chromosome translocation t(2;13) in rhabdomyosarcoma: a Pcr study of fresh-frozen and paraffin-embedded tumour samples.
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 undifferentiated small cell tumour, where it may be indicative of clinical behaviour.
authors.affiliation: GSF-Forschungszentrum für Umwelt und Gesundheit, Institut für Pathologie, Neuherberg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Reichmuth
authors.forename: M A
authors.initials: MA
authors.lastname: Markus
authors.forename: M
authors.initials: M
authors.lastname: Hillemanns
authors.forename: M J
authors.initials: MJ
authors.lastname: Atkinson
authors.forename: K K
authors.initials: KK
authors.lastname: Unni
authors.forename: G
authors.initials: G
authors.lastname: Saretzki
authors.forename: H
authors.initials: H
authors.lastname: Höfler
mesh_terms: D015139:Blotting, Southern; D002648:Child; D002882:Chromosomes, Human, Pair 13; D002889:Chromosomes, Human, Pair 2; D015925:Cryopreservation; D003937:Diagnosis, Differential; D006801:Humans; D016612:Paraffin Embedding; D016133:Polymerase Chain Reaction; D018232:Rhabdomyosarcoma, Alveolar / Q000175:diagnosis* / Q000235:genetics; D018233:Rhabdomyosarcoma, Embryonal / Q000175:diagnosis* / Q000235:genetics; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured