Klin Padiatr 2010; 222 - A52
DOI: 10.1055/s-0030-1254503

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

M Karl 1, M Krumbholz 1, J Tauer 2, M Suttrop 2, M Metzler 1
  • 1Department of Pediatrics, University of Erlangen, Erlangen, Germany
  • 2Department of Pediatrics; University Hospital “Carl Gustav Carus“, Dresden, Germany

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 Conclusion: MLR-PCR of genomic BCR-ABL fusion-sites allows a highly sensitive absolute quantification of tumor cells. In contrast to quantification of fusion transcripts by RT-PCR, DNA based diagnostic is independent of tumor cells' expressional activity and allows sensitive detection of residual tumor cells including quiescent CML cells during and after TKI treatment.