title: Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival.
abstract: The prognostic impact of t(12;21)(p13;q22) [ETV6/RUNX1 fusion] in paediatric acute lymphoblastic leukaemia (ALL) has been extensively debated, particularly with regard to the frequency of late relapses and appropriate treatment regimens. We have retrospectively collected 679 ALLs with known ETV6/RUNX1 status, as ascertained by fluorescence in situ hybridization or reverse-transcription polymerase chain reaction, treated according to the Nordic Society of Paediatric Haematology and Oncology -ALL-1992 protocol. The assigned risk groups/treatment modalities for the 171 (25%) patients with t(12;21)-positive ALLs were 74 (43%) standard risk, 71 (42%) intermediate risk and 26 (15%) high risk. The 5- and 10-year event-free survival (EFS) of the 171 patients was 80% and 75% respectively, with no significant differences among the three risk groups. Most of the relapses occurred in boys and were late, with almost 50% of all relapses occurring > or = 5 years after diagnosis. Of all relapses after 6 years, 80% occurred in the t(12;21)-positive group. The overall survival was 94% at 5 years and 88% at 10 years; thus, the treatment of patients in second or later remission is usually successful. As yet, there is no reliable plateau in the EFS curve, a fact that raises the question as to when the prognostic ramifications of ALLs harbouring ETV6/RUNX1 should be evaluated.
authors.affiliation: Department of Clinical Sciences, Paediatrics, University of Umeå, Umeå, Sweden. erik.forestier@pediatri.umu.se
authors.forename: Erik
authors.initials: E
authors.lastname: Forestier
authors.forename: Mats
authors.initials: M
authors.lastname: Heyman
authors.forename: Mette K
authors.initials: MK
authors.lastname: Andersen
authors.forename: Kirsi
authors.initials: K
authors.lastname: Autio
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Blennow
authors.forename: Georg
authors.initials: G
authors.lastname: Borgström
authors.forename: Irina
authors.initials: I
authors.lastname: Golovleva
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: Johann H
authors.initials: JH
authors.lastname: Johannsson
authors.forename: Gitte
authors.initials: G
authors.lastname: Kerndrup
authors.forename: Ann
authors.initials: A
authors.lastname: Nordgren
authors.forename: Richard
authors.initials: R
authors.lastname: Rosenquist
authors.forename: Birgitta
authors.initials: B
authors.lastname: Swolin
authors.forename: Bertil
authors.initials: B
authors.lastname: Johansson
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis / Q000235:genetics*; D011379:Prognosis; D012008:Recurrence; D012189:Retrospective Studies; D016019:Survival Analysis; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein