Identification of genomic fusion-sites in BCR-ABL positive childhood CML

Aims: BCR-ABL translocation resulting from t(9;22)(q34;q11) is a hallmark of chronic myeloid leukemia (CML). Each genomic DNA fusion sequence is unique to individual patients and represents an ideal marker for quantification of tumor cells. Specially designed PCR assays are necessary to cover the exceedingly large size of involved break point regions. Patients and method: In a cohort of 40 pediatric patients the genomic BCR-ABL fusion sequences have been analyzed. For identification of genomic BCR-ABL fusion sites we used a two round multiplex long-range PCR (MLR-PCR), followed by sequencing analysis. Result and…