Abstract
The t(8;21)(q22;q22) is the second-most frequently observed nonrandom karyotypic abnormality associated with acute myelogenous leukemia (AML), especially in FAB M2. Trisomy 4 is also a specific chromosomal abnormality for AML FAB M2 or M4. We experienced a 37-year-old woman with a morphologically AML FAB M2 carrying a rare complex translocation (6;21;8)(p21;q22;q22) resulting in AML1 gene rearrangement. A subclone with an additional chromosomal abnormality, trisomy 4, was also revealed. Similarly to the typical t(8;21), a conventional chemotherapy successfully induced into complete remission associated with a recovery of normal karyotype, 46,XX, although AML1/MTG8 (ETO) chimera mRNA was detected by reverse transcriptase polymerase chain reaction.
MeSH terms
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Adult
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Chromosome Banding
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Chromosome Mapping
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Chromosomes, Human, Pair 21*
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Chromosomes, Human, Pair 4*
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Chromosomes, Human, Pair 6*
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Chromosomes, Human, Pair 8*
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Core Binding Factor Alpha 2 Subunit
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DNA-Binding Proteins / genetics
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Female
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Genetic Variation
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Humans
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Karyotyping
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Leukemia, Myeloid, Acute / genetics*
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Leukemia, Myeloid, Acute / pathology
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Proto-Oncogene Proteins / genetics
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RNA, Messenger / genetics
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RUNX1 Translocation Partner 1 Protein
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Recombinant Fusion Proteins / biosynthesis
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Reverse Transcriptase Polymerase Chain Reaction
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Transcription Factors / genetics
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Translocation, Genetic*
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Trisomy*
Substances
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Core Binding Factor Alpha 2 Subunit
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DNA-Binding Proteins
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Proto-Oncogene Proteins
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RNA, Messenger
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RUNX1 Translocation Partner 1 Protein
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RUNX1 protein, human
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RUNX1T1 protein, human
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Recombinant Fusion Proteins
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Transcription Factors