Abstract
A 39-year-old man was diagnosed as having acute myeloblastic leukemia with maturation (AML-M2). Cytogenetic studies revealed 45,X,-Y,t(8;20)(q22;q13)[21]/46,XY[3]. Molecular analysis of the marrow mononuclear cells by reverse transcription-polymerase chain reaction with nested AML1 and ETO primers showed amplification of the AML1/ETO fusion transcript, thus confirming that the chromosomal aberration was in fact a masked t(8;21), i.e., variant t(8;20;21)(q22;q13;q22).
MeSH terms
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Adult
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Chromosome Banding
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Chromosomes, Human, Pair 20
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Chromosomes, Human, Pair 21
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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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Humans
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Leukemia, Myeloid, Acute / genetics
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Leukemia, Myeloid, Acute / pathology*
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Male
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Proto-Oncogene Proteins*
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RUNX1 Translocation Partner 1 Protein
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Transcription Factors / genetics
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Translocation, Genetic
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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RUNX1 Translocation Partner 1 Protein
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RUNX1 protein, human
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RUNX1T1 protein, human
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Transcription Factors