Recurrence of OTT-MAL fusion in t(1;22) of infant AML-M7.
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.
Mercher
Thomas
T
U434 INSERM-CEPH, 27 rue Juliette Dodu, 75010 Paris, France.
Busson-Le Coniat
Maryvonne
M
Nguyen Khac
Florence
F
Ballerini
Paola
P
Mauchauffé
Martine
M
Bui
Hung
H
Pellegrino
Béatrice
B
Radford
Isabelle
I
Valensi
Françoise
F
Mugneret
Francine
F
Dastugue
Nicole
N
Bernard
Olivier A
OA
Berger
Roland
R
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*
D015514:Oncogene Proteins, Fusion; D011506:Proteins; C431574:RBM15 protein, human; D016601:RNA-Binding Proteins