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  • Title: Recurrence of OTT-MAL fusion in t(1;22) of infant AML-M7.
    Author: Mercher T, Busson-Le Coniat M, Nguyen Khac F, Ballerini P, Mauchauffé M, Bui H, Pellegrino B, Radford I, Valensi F, Mugneret F, Dastugue N, Bernard OA, Berger R.
    Journal: Genes Chromosomes Cancer; 2002 Jan; 33(1):22-8. PubMed ID: 11746984.
    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.
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