Abstract
We report a 29-year-old Japanese male with acute myelogenous leukemia (AML)-M4 with a cryptic t(7;11)(p15;p15), in which a chimeric NUP98-HOXA9 fusion was detected by polymerase chain reaction analysis and a chromosomal analysis showed 46,XY. The patient received intensive chemotherapy and underwent autologous stem cell transplantation, and remission was confirmed by the disappearance of NUP98-HOXA9. However, 6 months after transplantation, the patient relapsed; NUP98-HOXA9 was detected again and karyotypic analysis revealed 46,XY, t(1;21)(p32;q22). Fluorescent in situ hybridization (FISH) analysis using an AML1-ETO translocation dual probe, showed that the 21q22 breakpoint involved AML1 locus. A retrospective FISH analysis showed that t(1;21) was absent at onset. This is the first reported case with AML who had a cryptic t(7;11)(p15;p15), and additionally acquired t(1;21)(p32;q22) at relapse.
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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Asian People
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Chromosomes, Human / genetics*
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Core Binding Factor Alpha 2 Subunit / genetics*
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Core Binding Factor Alpha 2 Subunit / metabolism
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Homeodomain Proteins / genetics*
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Homeodomain Proteins / metabolism
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Humans
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Japan
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Leukemia, Myeloid, Acute / genetics*
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Leukemia, Myeloid, Acute / metabolism
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Leukemia, Myeloid, Acute / pathology
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Leukemia, Myeloid, Acute / therapy*
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Male
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Nuclear Pore Complex Proteins / genetics*
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Nuclear Pore Complex Proteins / metabolism
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Oncogene Proteins, Fusion / genetics*
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Oncogene Proteins, Fusion / metabolism
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RUNX1 Translocation Partner 1 Protein
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Recurrence
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Stem Cell Transplantation
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Time Factors
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Translocation, Genetic*
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Transplantation, Autologous
Substances
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AML1-ETO fusion protein, human
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Core Binding Factor Alpha 2 Subunit
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Homeodomain Proteins
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NUP98-HOXA9 fusion protein, human
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Nuclear Pore Complex Proteins
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Oncogene Proteins, Fusion
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RUNX1 Translocation Partner 1 Protein