The MLL gene, located on chromosome band 11q23 is fused to different partne
r genes as a result of various chromosomal translocations in hematopoietic
malignancies. A t(1;11) (q21;q23) resulting in a MLL-AF1q fusion gene has p
reviously been reported. Cytogenetic studies on six cases are reported, inc
luding one three-way translocation. FISH analysis using a YAC encompassing
the MLL gene and a YAC encompassing the AF1q locus showed splitting in thre
e cases and two patients, respectively. PCR analysis of two cases confirmed
that AF1q is specifically associated with t(1;11)(q21;q23). The MLL-AF1q f
usion mRNA was similar to that previously described in one case and involve
d MLL exon 7 in the other. This study confirms the specific involvement of
AF1q in t(1;11) (q21;q23)-positive acute leukemia with monocytic involvemen
t.