Abstract
Several partner genes on different chromosomes have been reported to be fused with the ETV6 gene (located in chromosome band 12p13), with different breakpoints and different frequencies, in various hematologic malignancies, particularly acute myeloid and lymphoid leukemias and myelodysplastic syndromes. By using FISH and molecular analyses, we have analyzed five different pediatric and adult patients carrying cytogenetic abnormalities involving 12p13. Our findings demonstrate that ETV6 was rearranged in all the cases analyzed. In particular, ETV6 was disrupted by translocations with chromosomal bands 7q22, 7q36, 9q11, and 13q12, not previously described as partners of ETV6 in translocations, thus extending its promiscuity in rearranging with different partner genes.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Chromosomes, Human / genetics*
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Chromosomes, Human, Pair 12 / genetics
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Chromosomes, Human, Pair 13 / genetics
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Chromosomes, Human, Pair 7 / genetics
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Chromosomes, Human, Pair 9 / genetics
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DNA-Binding Proteins / genetics*
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ETS Translocation Variant 6 Protein
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Female
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Gene Deletion
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Humans
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Infant
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Karyotyping
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Leukemia, Myeloid / genetics*
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Leukemia, Myeloid, Acute / genetics
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Male
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Middle Aged
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Myelodysplastic Syndromes / 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*
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Transcription Factors / genetics*
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Translocation, Genetic*
Substances
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DNA-Binding Proteins
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Proto-Oncogene Proteins c-ets
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Repressor Proteins
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Transcription Factors