Translocation t(1;22)(p13;q13) is associated with a peculiar subtype of acu
te megakaryocytic leukemia (M7) occurring in infants. We have recently char
acterized 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 tw
o translocation breakpoints suggests a nonhomologous end joining mechanism
in the genesis of this translocation and reveals a noncanonical topoisomera
se 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 M
7. (C) 2002 Wiley-Liss, Inc.