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Structural Analysis ofPAX7Rearrangements in Alveolar Rhabdomyosarcoma

Authors
Journal
Cancer Genetics and Cytogenetics
0165-4608
Publisher
Elsevier
Publication Date
Volume
117
Issue
1
Identifiers
DOI: 10.1016/s0165-4608(99)00130-2
Disciplines
  • Biology
  • Medicine

Abstract

Abstract 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.

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