title: High incidence of the ETV6/RUNX1 fusion gene in paediatric precursor B-cell acute lymphoblastic leukaemias with trisomy 21 as the sole cytogenetic change: a Nordic series of cases diagnosed 1989-2005.
abstract: Trisomy 21 is common in ETV6/RUNX1-positive acute lymphoblastic leukaemia (ALL); both these aberrations are associated with a favourable outcome. The prognostic impact of +21 as a sole cytogenetic change could be due to a cryptic t(12;21)(p13;q22). The occurrence of ETV6/RUNX1 was determined in 66 childhood ALLs with an acquired +21 and a chromosome number <51. ETV6/RUNX1 was found in 45% of cases and in the majority (10/18; 56%) of ALLs with sole +21. Event-free survival did not differ between the t(12;21)-positive and -negative cases. Thus, the prognostic impact of +21 is not attributable to cryptic ETV6/RUNX1.
authors.affiliation: Department of Clinical Genetics, Lund University Hospital, Lund, Sweden. kristina.karrman@med.lu.se
authors.forename: Kristina
authors.initials: K
authors.lastname: Karrman
authors.forename: Erik
authors.initials: E
authors.lastname: Forestier
authors.forename: Mette K
authors.initials: MK
authors.lastname: Andersen
authors.forename: Kirsi
authors.initials: K
authors.lastname: Autio
authors.forename: Georg
authors.initials: G
authors.lastname: Borgström
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
authors.forename: Kristina
authors.initials: K
authors.lastname: Heinonen
authors.forename: Randi
authors.initials: R
authors.lastname: Hovland
authors.forename: Gitte
authors.initials: G
authors.lastname: Kerndrup
authors.forename: Bertil
authors.initials: B
authors.lastname: Johansson
mesh_terms: D000293:Adolescent; D002051:Burkitt Lymphoma / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005260:Female; D005387:Finland / Q000453:epidemiology; D052138:Genes, Neoplasm / Q000235:genetics*; D006801:Humans; D007055:Iceland / Q000453:epidemiology; D015994:Incidence; D007223:Infant; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics*; D011379:Prognosis; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D012537:Scandinavian and Nordic Countries / Q000453:epidemiology; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D009363:Neoplasm Proteins; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein; C493728:RUNX1 protein, human