title: Minimal residual disease analysis in children with t(12;21)-positive acute lymphoblastic leukemia: comparison of Ig/TCR rearrangements and the genomic fusion gene.
abstract: Quantification of minimal residual disease (MRD) based on clonotypic immunoglobulin/ T-cell receptor (Ig/TCR) gene rearrangements is widely used as an independent prognostic parameter in childhood acute lymphoblastic leukemia (ALL). In this study we compared MRD by quantification of Ig/TCR targets and genomic ETV6-RUNX1 specific sequences. In ten of twelve patients with t(12;21)+ ALL we observed concordance with rapid blast reduction in nine, and high-level persistence in one case. The two remaining patients showed low-level persistence of the genomic breakpoint specific sequence. These patients have remained in complete remission for 38 and 41 months, so far, indicating that a small ETV6-RUNX1-positive clone is not detrimental to the short-term prognosis of affected children.
authors.affiliation: Dept. of Paediatrics, University of Erlangen-Nürnberg, Erlangen, Germany.
authors.forename: Markus
authors.initials: M
authors.lastname: Metzler
authors.forename: Georg
authors.initials: G
authors.lastname: Mann
authors.forename: Uli
authors.initials: U
authors.lastname: Monschein
authors.forename: Martin
authors.initials: M
authors.lastname: Lodzinski
authors.forename: Christine
authors.initials: C
authors.lastname: Gall
authors.forename: Thomas
authors.initials: T
authors.lastname: Flohr
authors.forename: Susanne
authors.initials: S
authors.lastname: Viehmann
authors.forename: Thorsten
authors.initials: T
authors.lastname: Langer
authors.forename: Martin
authors.initials: M
authors.lastname: Schrappe
authors.forename: Helmut
authors.initials: H
authors.lastname: Gadner
authors.forename: Oskar A
authors.initials: OA
authors.lastname: Haas
authors.forename: E Renate
authors.initials: ER
authors.lastname: Panzer-Grümayer
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D014408:Biomarkers, Tumor / Q000032:analysis* / Q000235:genetics; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002999:Clone Cells / Q000648:ultrastructure; D050676:Core Binding Factor Alpha 2 Subunit / Q000032:analysis* / Q000235:genetics; D004273:DNA, Neoplasm / Q000235:genetics; D018572:Disease-Free Survival; D005260:Female; D015322:Gene Rearrangement, B-Lymphocyte; D015329:Gene Rearrangement, T-Lymphocyte; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D018365:Neoplasm, Residual; D015514:Oncogene Proteins, Fusion / Q000032:analysis* / Q000235:genetics; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D011289:Preleukemia / Q000235:genetics; D011379:Prognosis; D012008:Recurrence; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D014408:Biomarkers, Tumor; D050676:Core Binding Factor Alpha 2 Subunit; D004273:DNA, Neoplasm; D015514:Oncogene Proteins, Fusion; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein