Although the t(2;13)(q35;q14) translocation has been found in most cases of the pediatric cancer alveolar rhabdomyosarcoma, several cases have been reported with a variant t(1;13)(p36;q14) translocation. Our findings indicate that this t(1;13) rearranges PAX7 on chromosome 1 and fuses it to FKHR on chromosome 13. This fusion results in a chimeric transcript consisting of 5′ PAX7 and 3′ FKHR regions, which is similar to the 5′ PAX3-3′ FKHR transcript formed by the t(2;13). The 5′ PAX3 and PAX7 regions encode related DNA binding domains, and therefore we postulate that these translocations create similar chimeric transcription factors that alter expression of a common group of target genes.


This work was supported by National Cancer Institute Grant CA47983 (to F. G. B. and J. A. B.) and the University of Pennsylvania Foundation (to F. G. B.)

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