Amplification of the MLL region in acute myeloid leukemia

We report amplification of the MLL gene region (11q23-->11qter) in a 72-year-old woman with myelodysplastic syndrome progressing to acute myelomonocytic leukemia and in a 51-year-old man with a history of hairy cell leukemia and secondary myelodysplasia progressing to acute myelogenous leukemia. The amplicons containing MLL were shown by molecular cytogenetics to extend from chromosomal region 11q23 to the distal long arm of chromosome 11 and to be present in the first patient in five copies on a large ring chromosome and present in the second patient also in five copies on two derived chromosomes. Other karyotypic findings in the first patient included del(5q), +8, and der(21)t(17;21), resulting in the loss of a copy of 17p, whereas deletion 7q was observed in the second patient. Southern-blot analysis for the second patient was consistent with MLL amplification but did not demonstrate rearrangement of the germ-line MLL band. Amplification of MLL and the 11q23 region has been documented in only a few cases and appears to be yet another mechanism by which MLL contributes to the leukemia phenotype.