Use of Single Nucleotide Polymorphism Array Technology to Improve the Identification of Chromosomal Lesions in Leukemia
Acute leukemias are characterized by recurring chromosomal and genetic abnormalities that disrupt normal
development and drive aberrant cell proliferation and survival. Identification of these abnormalities plays important role
in diagnosis, risk assessment and patient classification. Until the last decade methods to detect these aberrations have
included genome wide approaches, such as conventional cytogenetics, but with a low sensitivity (5-10%), or gene
candidate approaches, such as fluorescent in situ hybridization, having a greater sensitivity but being limited to only
known regions of the genome. Single nucleotide polymorphism (SNP) technology is a screening method that has
revolutionized our way to find genetic alterations, enabling linkage and association studies between SNP genotype and
disease as well as the identification of alterations in DNA content on a whole genome scale. The adoption of this approach
for the study of lymphoid and myeloid leukemias contributed to the identification of novel genetic alterations, such as
losses/gains/uniparental disomy not visible by cytogenetics and implicated in pathogenesis, improving risk assessment
and patient classification and in some cases working as targets for tailored therapies. In this review, we reported recent
advances obtained in the knowledge of the genomic complexity of chronic myeloid leukemia and acute leukemias thanks
to the use of high-throughput technologies, such as SNP array.
Keywords: genetic lesions, leukemia, SNP array.
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