title: Recurrence of OTT-MAL fusion in t(1;22) of infant AML-M7.
abstract: Translocation t(1;22)(p13;q13) is associated with a peculiar subtype of acute megakaryocytic leukemia (M7) occurring in infants. We have recently characterized a fusion gene, OTT-MAL, resulting from this translocation. We now report three additional cases and show that this gene fusion is present in all five t(1;22) cases studied to date. Nucleotide sequence analysis of two translocation breakpoints suggests a nonhomologous end joining mechanism in the genesis of this translocation and reveals a noncanonical topoisomerase II-like consensus sequence within the OTT gene. FISH and PCR techniques described in this work are useful for identifying t(1;22) associated with M7.
authors.affiliation: U434 INSERM-CEPH, 27 rue Juliette Dodu, 75010 Paris, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Mercher
authors.forename: Maryvonne
authors.initials: M
authors.lastname: Busson-Le Coniat
authors.forename: Florence
authors.initials: F
authors.lastname: Nguyen Khac
authors.forename: Paola
authors.initials: P
authors.lastname: Ballerini
authors.forename: Martine
authors.initials: M
authors.lastname: Mauchauffé
authors.forename: Hung
authors.initials: H
authors.lastname: Bui
authors.forename: Béatrice
authors.initials: B
authors.lastname: Pellegrino
authors.forename: Isabelle
authors.initials: I
authors.lastname: Radford
authors.forename: Françoise
authors.initials: F
authors.lastname: Valensi
authors.forename: Francine
authors.initials: F
authors.lastname: Mugneret
authors.forename: Nicole
authors.initials: N
authors.lastname: Dastugue
authors.forename: Olivier A
authors.initials: OA
authors.lastname: Bernard
authors.forename: Roland
authors.initials: R
authors.lastname: Berger
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D020223:Chromosome Painting; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007947:Leukemia, Megakaryoblastic, Acute / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D015514:Oncogene Proteins, Fusion; D011506:Proteins; C431574:RBM15 protein, human; D016601:RNA-Binding Proteins