Abstract
Comparative expression analysis of wild-typeETV6 in the disease state showed an absence of expression in ETV6-CBFA2 acute lymphoblastic leukaemia (ALL) when compared with non-ETV6-CBFA2 ALL and acute myeloid leukaemia. Fluorescent in-situ hybridization and loss of heterozygosity studies showed that 73% of the ETV6-CBFA2 samples had a fully or partially deleted second ETV6 allele, explaining the lack of wild-type expression in these patients. Although the second ETV6 allele was identified in the remaining patients, no ETV6 expression was detected. These observations support the hypothesis that loss of ETV6 expression is a critical secondary event for leukaemogenesis in ETV6-CBFA2 ALL.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Acute Disease
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Alleles
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Child
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Core Binding Factor Alpha 2 Subunit
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DNA-Binding Proteins / genetics*
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ETS Translocation Variant 6 Protein
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Gene Deletion
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Gene Expression
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Humans
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In Situ Hybridization, Fluorescence
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Leukemia, Myeloid / genetics*
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Loss of Heterozygosity
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Neoplasm Proteins / genetics
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Oncogene Proteins, Fusion / genetics
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Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
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Proto-Oncogene Proteins c-ets
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Repressor Proteins / genetics*
Substances
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Core Binding Factor Alpha 2 Subunit
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DNA-Binding Proteins
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Neoplasm Proteins
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Oncogene Proteins, Fusion
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Proto-Oncogene Proteins c-ets
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Repressor Proteins
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TEL-AML1 fusion protein