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Novel formation and amplification of thePAX7-FKHR fusion gene in a case of alveolar rhabdomyosarcoma

1996; Wiley; Volume: 17; Issue: 1 Linguagem: Inglês

10.1002/(sici)1098-2264(199609)17

1098-2264

Stephen J. Weber-Hall, Aidan McManus, John Anderson, Takayuki Nojima, Syuiti Abe, Kathy Pritchard‐Jones, Janet Shipley,

RNA Research and Splicing

Alveolar rhabdomyosarcomas frequently exhibit specific translocations, resulting in the fusion of the FKHR gene at 13q14 with either the PAX3 or PAX7 gene at 2q35 and Ip36, respectively. Comparative genomic hybridization revealed amplification at 13q14 and Ip36, suggesting amplification of the PAX7-FKHR fusion gene in two cases of alveolar rhabdomyosarcoma. A PAX7-FKHR fusion transcript was demonstrated in both cases by reverse transcription-polymerase chain reaction followed by sequence analysis. In one case, amplification of the PAX7 gene and 3′- and 5′-FKHR gene sequences was demonstrated by using interphase fluorescence in situ hybridization on tumor imprints. The colocalization, variable copy number, and distribution of signals from the three cosmids was consistent with amplification of these sequences on double minutes, which were present cytogenetically. Chromatin release studies suggested that the amplified sequences correlated with amplification of the PAX7-FKHR fusion gene which resulted from the insertion of PAX7 sequences into the first intron of the FKHR gene, in keeping with the absence of cytogenetic evidence for derivative chromosomes. Genes Chromosom Cancer 17:7–13 (1996).