Abstract
Reciprocal t(16;21)(p11;q22) is a rare chromosomal abnormality in acute myeloid leukemia (AML). The chimeric transcript FUS-ERG formed by this translocation which causes the replacement of RNA-binding domain of FUS (alias TLS) with the DNA-binding domain of ERG, and this event is thought to be responsible for leukemogenesis. Here we report two cases of AML with t(16;21)(p11.2;q22) showing unusual characteristics, and address the clinical, hematological, and molecular aspects of leukemia with t(16;21), along with a review of the literature.
MeSH terms
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Adult
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Aged
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Base Sequence
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Chromosomes, Human, Pair 16*
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Chromosomes, Human, Pair 21*
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Cytogenetic Analysis
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DNA Mutational Analysis
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Female
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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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Oncogene Proteins, Fusion / genetics*
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Oncogene Proteins, Fusion / isolation & purification
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RNA, Messenger / genetics
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RNA, Messenger / isolation & purification
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RNA-Binding Protein FUS / genetics*
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RNA-Binding Protein FUS / isolation & purification
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Translocation, Genetic*
Substances
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Oncogene Proteins, Fusion
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RNA, Messenger
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RNA-Binding Protein FUS
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TLS-ERG fusion protein, human