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

^* Institute of Human Genetics, Newcastle upon Tyne, UK
^° Dept. of Hematology, Royal Victoria Infirmary, Newcastle upon Tyne, UK

Correspondence: David Rowe, Institute of Human Genetics, Central Parkway, Newcastle upon Tyne, NE1 3BZ United Kingdom. Phone: international +44.191.2418793. Fax: international +44.191.2418713. E-mail: david.rowe{at}ncl.ac.uk

We present a case of acute myeloid leukemia (AML) with a cytogenetically typical inv(16)(p13q22), M4 morphology and eosinophilia. However, studies revealed a CBFß-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.

Key words: leukemia, inv(16), MYH11, variant.