title: RUNX1 amplification in AML with myelodysplasia-related changes and ring 21 chromosomes.
abstract: Ring 21 is an unstable structural abnormality of chromosome 21 that can lead to RUNX1 gene amplification. We present a unique case with a carrier patient of a constitutional ring chromosome 21 (partial monosomy and trisomy 21) with dysmorphic features and congenital malformations phenotype, who developed acute myeloid leukaemia with myelodysplasia-related changes and two ring 21 chromosomes with RUNX1 amplification. The patient's constitutional ring 21 chromosome showed alterations in tumour suppressor genes, and oncogenes, but not in RUNX1. RUNX1 gene expression at acute myeloid leukaemia diagnosis, showed no upregulation, so other genes may also be the genetic amplification targets in this patient. Copyright © 2016 John Wiley & Sons, Ltd.
authors.affiliation: Servicio de Inmunología, Hospital Universitario Virgen del Rocío, Seville, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Burillo-Sanz
authors.affiliation: Department of Hematology, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
authors.forename: M T
authors.initials: MT
authors.lastname: Vargas
authors.affiliation: Department of Hematology, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
authors.forename: R M
authors.initials: RM
authors.lastname: Morales-Camacho
authors.affiliation: Department of Hematology, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
authors.forename: T
authors.initials: T
authors.lastname: Caballero-Velázquez
authors.affiliation: Department of Genetics, Reproduction and Fetal Medicine, Seville, Spain.|Centre of Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Sánchez
authors.affiliation: Servicio de Inmunología, Hospital Universitario Virgen del Rocío, Seville, Spain.
authors.forename: J R
authors.initials: JR
authors.lastname: García-Lozano
authors.affiliation: Department of Hematology, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Pérez de Soto
authors.affiliation: Department of Hematology, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Prats-Martín
authors.affiliation: Department of Hematology, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Bernal
authors.affiliation: Department of Hematology, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
authors.forename: J A
authors.initials: JA
authors.lastname: Pérez-Simón
mesh_terms: D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005260:Female; D005784:Gene Amplification; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D012303:Ring Chromosomes
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human
keywords: AML; RUNX1 amplification; r(21)