Neoplasma Vol.53, p.150-154, 2006
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Title: Amplification of AML1 gene in association with karyotype, age and
diagnosis in acute leukemia patients
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Author: G., KIRSCHNEROVA
; A., TOTHOVA
; O., BABUSIKOVA
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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.
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Keywords: AML1 gene, amplification, ALL, AML
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Year: 2006, Volume: 53, Issue: |
Page From: 150, Page To: 154 |
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