constitutional chromosome rearrangement, inv(16)(p13.1q22), pericentric inversion An acquired abnormality, inv(16)(p13q22), is a hallmark of acute myeloid leukemia with eosinophilia (AML M4Eo), which leads to leukemogenesis by forming the CBFB::MYH11 fusion gene [1]. We experienced a case of inv(16)(p13.1q22) discovered incidentally during bone marrow examination without evidence of AML. F I G U R E 1 (A) Chromosome analysis of the bone marrow cells showing 46, XX, inv(16)(p13.1q22). An arrow indicates pericentric inversion of chromosome 16. (B) Fluorescence in situ hybridization (FISH) analysis of the bone marrow cells. The SpectrumRed probe hybridizes centromeric to the 16q22 breakpoint region, and the SpectrumGreen probe hybridizes telomeric to the breakpoint. Representative interphase cells showing two fused red/green (yellow) signals (arrowheads) showing no truncation of the CBFB locus on chromosome 16q22. (C) High-resolution chromosome analysis of the phytohemagglutinin (PHA)-stimulated peripheral blood lymphocytes showing inv(16)(p13.1q22). Arrows indicate the breakpoints of pericentric inversion of chromosome 16.
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