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...

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Bibliographic Details
Published in:Genes chromosomes & cancer 2002-01, Vol.33 (1), p.22-28
Main Authors: Mercher, Thomas, Busson-Le Coniat, Maryvonne, Khac, Florence Nguyen, Ballerini, Paola, Mauchauffé, Martine, Bui, Hung, Pellegrino, Béatrice, Radford, Isabelle, Valensi, Françoise, Mugneret, Francine, Dastugue, Nicole, Bernard, Olivier A., Berger, Roland
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Base Sequence
chromosome 1
chromosome 22
Chromosome Painting
Chromosomes, Human, Pair 1 - genetics
Chromosomes, Human, Pair 22 - genetics
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Leukemia, Megakaryoblastic, Acute - diagnosis
Leukemia, Megakaryoblastic, Acute - genetics
MAL gene
Male
Molecular Sequence Data
Oncogene Proteins, Fusion - genetics
OTT gene
Proteins - genetics
RNA-Binding Proteins
Translocation, Genetic - genetics
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Summary: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.
ISSN:1045-2257
1098-2264
DOI:10.1002/gcc.1208