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We present a case of acute myeloid leukemia (AML) with a cytogenetically typical inv(16)(p13q22), M4 morphology and eosinophilia. However, studies revealed a CBF beta-MYH11 fusion transcript which did not correspond to any of the 10 known variants. Subsequent sequencing revealed a new in-frame transcript variant resulting from a novel MYH11 exon 32 breakpoint and a seven base insertion at the fusion point. The patient remains in complete remission following standard protocols. Prognostic implications cannot, therefore, be evaluated.

A case of acute myeloid leukemia with inv(16)(p13q22) reveals a novel MYH11 breakpoint and a new CBF -MYH11 transcript variant