AML with inv(16)

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AML with inv(16)

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Author: Ke Xu, MD
Category: Myeloid Neoplasms and acute leukemia (WHO 2016) > Acute Myeloid Leukemia > Acute Myeloid Leukemia with recurrent genetic abnormalities > AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
Published Date: 05/03/2021

A 33-year-old female presented with pancytopenia. Hb 47 g/L, WBC 9.3x10^9/L, neutrophil 0.65x 10^9/L, Platelet 11x 10^9/L. Bone marrow aspirate showed 67% blasts and abnormal eosinophils with large basophilic (blue) colored granules. Flow showed 50% blasts. They are CD117+CD34weakCD33+HLADR+CD13+CD38+ and MPO+. Target FISH confirmed a presence of CBFB-MYH11 fusion gene and trisomy 8. PCR was positive for the FLT3 D835/I836 Variant. Negative for the FLT3 Internal Tandem Duplication, and negative for a NPM1 exon 12 mutation.

The abnormal eosinophils with basophilic inclusions ("eo-basos") have been associated with acute myeloid leukemia with the inversion 16 cytogenetic abnormality.

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