title: Quantification of minimal residual disease (MRD) in acute lymphoblastic leukemia (ALL) using amplicon-fusion-site polymerase chain reaction (AFS-PCR).
abstract: The amplification of putative oncogenes is a common finding within the genome of various cancer types. Identification and further targeting of specific junction sites within the sequence of genomic amplicons (amplicon fusion sites, AFS) by PCR (AFS-PCR) is suitable for quantification of minimal residual disease (MRD). This approach has recently been developed and described for MYCN amplified neuroblastomas. To compare AFS-PCR directly to routinely used MRD diagnostic strategies, we mapped the amplified genomic regions (ampGR) of an iAMP21-amplicon in high resolution of a patient with acute lymphoblastic leukemia (ALL). Successfully, we established AFS-PCR covering junction sites between ampGR within the iAMP21-amplicon. Quantification of MRD by AFS-PCR was directly comparable to IgH/TCR based real time quantitative PCR and fluorescence activated cell sorting (FACS) analysis in consecutive bone marrow (BM) specimens. Our data give an additional proof of concept of AFS-PCR for quantification of MRD. The method could be taken into account for ALL patients with genomic amplifications as alternative MRD diagnostic, if no or qualitatively poor Ig/TCR-PCRs are available.
authors.affiliation: Department of Pediatric Oncology, Hematology and Hemostaseology, Children's Hospital, University of Leipzig, Leipzig, Germany. axel.weber@humangenetik.med.uni-giessen.de.
authors.forename: Axel
authors.initials: A
authors.lastname: Weber
authors.forename: Sylvia
authors.initials: S
authors.lastname: Taube
authors.forename: Udo
authors.initials: U
authors.lastname: Zur Stadt
authors.forename: Martin
authors.initials: M
authors.lastname: Horstmann
authors.forename: Knut
authors.initials: K
authors.lastname: Krohn
authors.forename: Jutta
authors.initials: J
authors.lastname: Bradtke
authors.forename: Andrea
authors.initials: A
authors.lastname: Teigler-Schlegel
authors.forename: Sabine
authors.initials: S
authors.lastname: Leiblein
authors.forename: Holger
authors.initials: H
authors.lastname: Christiansen