Amplification of AML1 gene in association with karyotype, age and diagnosis in acute leukemia patients
Abstract:
The AML1 gene, located in the chromosomal band 21q22, belongs to the runt domain family of genes and encodes the subunit of the core-binding factor (CBF). AML1 is normally expressed in all hematopoietic lineages and is essential for the transcriptional regulation of a number of hematopoietic specific genes. In acute leukemia three types of abnormality of AML1 have been observed – chromosomal translocations, point mutation and duplication or amplification of the unrearranged gene. The most common origin of extra copies of the AML1 gene is polysomy of chromosome 21 or a partial duplication of the long arm of chromosome 21, less frequently ring, isochromosome or the tandem repetition of chromosome 21. In the study 13 children and 5 adults with ALL and AML or MDS, respectively, have been included. Using standard G-banding and dual color FISH analyses, gain of AML1 originated in polysomy of chromosome 21 in each group of patients was proved. True high-level amplification was not observed but some uncommon changes in noteworthy association with other chromosome aberrations, age or diagnoses were presented.