Structural analysis of PAX7 rearrangements in alveolar rhabdomyosarcoma

Cancer Genet Cytogenet. 2000 Feb;117(1):37-40. doi: 10.1016/s0165-4608(99)00130-2.


In the pediatric cancer alveolar rhabdomyosarcoma, the common 2;13 and less frequent 1;13 translocations fuse PAX3 and PAX7, respectively, with FKHR to produce chimeric genes. To compare structural features of these rearrangements, we cloned and mapped a 64-kb genomic region containing PAX7 exons 5 through 8. With the use of Southern blot methodology, rearrangements of the 30-kb PAX7 intron 7 were detected in 9 of 9 PAX7-FKHR-positive cases. Similar to our t(2;13) studies, the t(1;13) breakpoints were randomly distributed within the seventh intron. In contrast with the > 90% frequency of reciprocal rearrangements in the t(2;13), reciprocal rearrangements involving the 3' PAX7 region were detected in only 4 of 9 cases. Furthermore, we detected PAX7-FKHR genomic amplification in 10 of 11 cases, in contrast with the < 5% frequency of PAX3-FKHR amplification. The differences in occurrence, reciprocity, and amplification between the PAX3-FKHR and PAX7-FKHR fusions indicate important differences in the mechanism of the two associated chromosomal translocation events.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 13
  • DNA-Binding Proteins / genetics
  • Forkhead Box Protein O1
  • Forkhead Transcription Factors
  • Homeodomain Proteins*
  • Humans
  • Muscle Proteins / genetics*
  • Nerve Tissue Proteins / genetics*
  • PAX7 Transcription Factor
  • Reverse Transcriptase Polymerase Chain Reaction
  • Rhabdomyosarcoma, Alveolar / genetics*
  • Transcription Factors / genetics
  • Translocation, Genetic


  • DNA-Binding Proteins
  • FOXO1 protein, human
  • Forkhead Box Protein O1
  • Forkhead Transcription Factors
  • Homeodomain Proteins
  • Muscle Proteins
  • Nerve Tissue Proteins
  • PAX7 Transcription Factor
  • PAX7 protein, human
  • Transcription Factors