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

Thomas Mercher1, Maryvonne Busson-Le Coniat, Florence Nguyen Khac

  • 1U434 INSERM-CEPH, 27 rue Juliette Dodu, 75010 Paris, France.

Genes, Chromosomes & Cancer
|December 18, 2001
PubMed

Insights

Translocation t(1;22) in infant acute megakaryocytic leukemia (M7) creates the OTT-MAL fusion gene. This gene is present in all studied cases, aiding in diagnosis.

Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • Acute megakaryocytic leukemia (M7) in infants can present with a specific translocation, t(1;22)(p13;q13).
  • This translocation leads to the formation of a novel fusion gene, OTT-MAL.

Purpose of the Study:

  • To investigate the prevalence of the OTT-MAL fusion gene in infant acute megakaryocytic leukemia associated with t(1;22).
  • To analyze the molecular mechanisms underlying the t(1;22) translocation and identify diagnostic tools.

Main Methods:

  • Polymerase Chain Reaction (PCR) to detect the OTT-MAL fusion gene.
  • Fluorescence In Situ Hybridization (FISH) to identify the t(1;22) translocation.
  • Nucleotide sequence analysis of translocation breakpoints.

Main Results:

  • The OTT-MAL fusion gene was identified in all five studied cases of t(1;22)-associated infant acute megakaryocytic leukemia.
  • Sequence analysis suggested a nonhomologous end joining mechanism for the translocation.
  • A noncanonical topoisomerase II-like consensus sequence was found within the OTT gene.

Conclusions:

  • The OTT-MAL fusion gene is a consistent finding in infant acute megakaryocytic leukemia with t(1;22).
  • Established FISH and PCR techniques are valuable for identifying this specific leukemia subtype.

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