Fusion of PAX7 to FKHR by the Variant t(1;13)(p36;q14) Translocation in Alveolar Rhabdomyosarcoma

RJ Davis, CM D'Cruz, MA Lovell, JA Biegel, FG Barr - Cancer research, 1994 - AACR
RJ Davis, CM D'Cruz, MA Lovell, JA Biegel, FG Barr
Cancer research, 1994AACR
Abstract 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 …
Abstract
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.
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