Abstrakt
The chromosomal band 11q13 has been observed to be a common site of aberrations in many different hematological malignancies. However, only a few rearranged genes have been identified until recently such as CCND1 (cyclin D1), NUMA1 (nuclear mitotic apparatus protein 1) and MACROD1 (MACRO domaincontaining 1, which is also known as LRP16).
Therefore, we studied the 11q13 breakpoint in bone marrow cells of two patients with acute myeloid leukemia (AML). This region was analyzed using a fluorescent in situ hybridization (FISH) analysis, which was based on positional cloning strategy using a locus-specific probe for the cyclin D1 gene and a series of 6 bacterial artificial chromosome probes.
In both patients, the 11q13 breakpoint was identified in an LRP5 gene (low-density lipoprotein receptor-related protein 5), which encodes a protein involved in the Wnt/beta-catenin signaling pathway. To our knowledge, this is the first report describing an aberration in the LRP5 gene in leukemia.