Multiple copies of RUNX1: description of 14 new patients, follow-up, and a review of the literature.
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.
Pérez-Vera
Patricia
P
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
Montero-Ruíz
Oreth
O
Frías
Sara
S
Rivera-Luna
Roberto
R
Valladares
Adán
A
Arenas
Diego
D
Paredes-Aguilera
Rogelio
R
Carnevale
Alessandra
A
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
D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human