title: Prevalence of t(12;21)[ETV6-RUNX1]-positive cells in healthy neonates.
abstract: t(12;21)(p13;q22)[ETV6-RUNX1] is the most common chromosomal translocation in childhood acute lymphoblastic leukemia, and it can often be backtracked to Guthrie cards supporting prenatal initiation and high levels of circulating t(12;21)-positive cells at birth. To explore the prevalence of ETV6-RUNX1-positive cells in healthy neonates, mononuclear cells from 1417 umbilical cord blood samples were isolated within 24 hours from birth and subsequently screened for ETV6-RUNX1 transcripts using a highly sensitive real-time reverse transcription polymerase chain reaction assay. In first-run polymerase chain reaction, 14 samples were positive at levels below 10(-5), of which specific hybridization reflecting the relevant genetic region was positive in 9 cases. Repeated analyses using stored mRNA and flowcytometric sorting of a CD19(+), CD8(+), and CD19(-)/CD8(-) subpopulations from cryopreserved mononuclear cells from the same cord blood samples (mean sorted: 18 × 10(6) cells) revealed no positive findings, which demonstrates that the level and/or frequency of ETV6-RUNX1-positive cells is markedly lower than suggested in previous studies.
authors: Department of Paediatrics, The University Hospital Rigshospitalet, Copenhagen, Denmark.
authors: Ulrik
authors: U
authors: Lausten-Thomsen
authors: Hans Ole
authors: HO
authors: Madsen
authors: Therese Risom
authors: TR
authors: Vestergaard
authors: Henrik
authors: H
authors: Hjalgrim
authors: Jacob
authors: J
authors: Nersting
authors: Kjeld
authors: K
authors: Schmiegelow
mesh_terms: D000328:Adult; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit; D003430:Cross-Sectional Studies; D005260:Female; D005312:Fetal Blood / Q000166:cytology / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis* / Q000235:genetics; D011379:Prognosis; D012680:Sensitivity and Specificity; D014178:Translocation, Genetic / Q000235:genetics*; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein