Acute myeloid leukemia with inv(8)(p11q13)

A patient with acute monoblastic leukemia (AML M5a) and the pericentric inv ersion inv(8)(p11q13) as well as additional chromosome abnormalities in her bone marrow cells is described. This is the fourth known case of inv(8)(p1 1q13)-positive acute leukemia. and the second such case in which gain of Iq material occurred during clonal evolution. All patients with acute leukemi a and inv(8)(p11q13) have been females. most have been young, and there has been a tendency for the disease to run an aggressive course. Both hematolo gically and cytogenetically, therefore, inv(8)(p11q13)-positive leukemia ma y be viewed as a variant of AML with t(8;16)(p11:p13). This similarity is a lso apparent at the molecular genetic level, in-as-much as the MOZ gene in 8p11 is rearranged in both the translocation and the inversion: in t(8;16)- positive leukemia, a MOZ-CBP chimeric gene is generated. whereas inv(8) has been shown to generate a MOZ-TIF2 fusion gene. Southern blot analysis of t he present case after MOZ0.8 hybridization of BamHI digested DNA gave an 11 kb aberrant band in addition to the germline band. corresponding to a brea kpoint immediately upstream of the 4 kb long MOZ exon that begins at positi on 3746. Also previously investigated inv(8)-positive leukemias have shown breaks in this intron indicating that it contains sequence motifs predispos ing to illegitimate recombination.