title: Chromosome 21 tandem repetition and AML1 (RUNX1) gene amplification.
abstract: In two patients with hematological neoplasias a tandem repetition of chromosome 21 in the bone marrow was revealed by cytogenetic analysis. The disease was different in the two patients: one was of the lymphoid type, acute lymphoblastic leukemia type L1, and the other was of the myeloid type, acute nonlymphoblastic leukemia type M2. In one case this chromosomal abnormality resulted in amplification of the AML1 gene (HUGO nomenclature: RUNX1), whereas in the other case the AML1 gene was not included in the tandem repetition, showing that apparently similar cytogenetic aberrations may be different at the molecular level.
authors.affiliation: Medical Genetics Department, University Hospital Ramón y Cajal, Carretera de Colmenar Km 9.100, 28034 Madrid, Spain. tferro.hrc@salud.madrid.org
authors.forename: M Teresa
authors.initials: MT
authors.lastname: Ferro
authors.forename: Rosario
authors.initials: R
authors.lastname: Hernaez
authors.forename: M Teresa
authors.initials: MT
authors.lastname: Sordo
authors.forename: Jose M
authors.initials: JM
authors.lastname: Garcia-Sagredo
authors.forename: Purificación
authors.initials: P
authors.lastname: Garcia-Miguel
authors.forename: M
authors.initials: M
authors.lastname: Fernández Guijarro
authors.forename: Javier
authors.initials: J
authors.lastname: Lopez
authors.forename: Concepción
authors.initials: C
authors.lastname: Villalón
authors.forename: Isabel
authors.initials: I
authors.lastname: Vallcorba
authors.forename: Pablo
authors.initials: P
authors.lastname: Cabello
authors.forename: Carlos
authors.initials: C
authors.lastname: San Roman
mesh_terms: D000368:Aged; D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005784:Gene Amplification / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D020080:Tandem Repeat Sequences / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; C493728:RUNX1 protein, human; D014157:Transcription Factors