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. 2002 Jan;33(1):22-8.
doi: 10.1002/gcc.1208.

Recurrence of OTT-MAL fusion in t(1;22) of infant AML-M7

Thomas Mercher  1 , Maryvonne Busson-Le Coniat, Florence Nguyen Khac, Paola Ballerini, Martine Mauchauffé, Hung Bui, Béatrice Pellegrino, Isabelle Radford, Françoise Valensi, Francine Mugneret, Nicole Dastugue, Olivier A Bernard, Roland Berger
Affiliations

Recurrence of OTT-MAL fusion in t(1;22) of infant AML-M7

Thomas Mercher et al. Genes Chromosomes Cancer. 2002 Jan.

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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