title: Multiple copies of RUNX1: description of 14 new patients, follow-up, and a review of the literature.
abstract: RUNX1 over-representation is present in children with acute lymphoblastic leukemia. Although these cases have been related with poor outcome, not all reports describe patient follow-up. To understand its associated clinical features and prognosis, we report on 14 children with ALL and RUNX1 over-representation with laboratory data and outcomes compared to previous reports. Eighty-six children with RUNX1 over-representation have been described, including the 14 patients of this study. Most of them are between 6 and 15 years of age, have low leukocyte counts, pre-B immunophenotype, and three to eight RUNX1 copies. Of the 69 patients with follow-up data, 21 of them relapsed or died, suggesting that RUNX1 over-representation is associated to a poor outcome.
authors.affiliation: Departamento de Investigación en Genética Humana, Instituto Nacional de Pediatría, Insurgentes Sur No. 3700-C, Col. Insurgentes Cuicuilco, CP 04530 México, DF. pperezvera@yahoo.com
authors.forename: Patricia
authors.initials: P
authors.lastname: Pérez-Vera
authors.forename: Oreth
authors.initials: O
authors.lastname: Montero-Ruíz
authors.forename: Sara
authors.initials: S
authors.lastname: Frías
authors.forename: Roberto
authors.initials: R
authors.lastname: Rivera-Luna
authors.forename: Adán
authors.initials: A
authors.lastname: Valladares
authors.forename: Diego
authors.initials: D
authors.lastname: Arenas
authors.forename: Rogelio
authors.initials: R
authors.lastname: Paredes-Aguilera
authors.forename: Alessandra
authors.initials: A
authors.lastname: Carnevale
mesh_terms: D002648:Child; D002675:Child, Preschool; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005784:Gene Amplification; D018628:Gene Dosage; D005820:Genetic Testing; D006801:Humans; D007621:Karyotyping; D008297:Male; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis / Q000235:genetics*; D011379:Prognosis
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human