Novel formation and amplification of the PAX7-FKHR fusion gene in a case of alveolar rhabdomyosarcoma

✍ Scribed by Stephen Weber-Hall; Aidan McManus; John Anderson; Takayuki Nojima; Syuiti Abe; Kathy Pritchard-Jones; Janet Shipley

• Book ID: 102655778
• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 844 KB
• Volume: 17
• Category: Article
• ISSN: 1045-2257
• DOI: 10.1002/(sici)1098-2264(199609)17:1<7::aid-gcc2>3.0.co;2-0

✦ Synopsis

Alveolar rhabdomyosarcomas frequently exhibit specific translocations, resulting in the fusion of the FKHR gene at 13q 14 with either the PAX3 or PAX7 gene at 2q35 and I p36, respectively. Comparative genomic hybridization revealed amplification at 13q14 and lp36, 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.