Application of genomic breakpoints as molecular markers in pediatric leukemia and sarcoma

Chromosomal translocations and the resultant fusion genes are recurrent tumor-specific markers of a large spectrum of pediatric tumors, particularly leukemia and sarcoma. The use of DNA fusion sequences as genomic minimal residual disease markers is often hampered by the extended size of breakpoint cluster regions, difficult to cover by conventional PCR applications. We developed and optimized nested multiplex long-range PCR assays for the identification of frequent fusion genes involved in ALL (TEL-AML1, E2A-PBX1, MLL, BCR-ABL1), AML (AML1-ETO, MLL), CML (BCR-ABL1), ALCL (NPM-ALK), Ewing's sarcoma (EWS-FLI1, EW…