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Acute myeloid leukemia with the t(8;21)(q22;22)

Author:  Elizabeth L. Courville, MD; Gordana Raca, Ph D, 09/17/2015
Category: Myeloid Neoplasms and acute leukemia (WHO 2016) > Acute Myeloid Leukemia > Acute Myeloid Leukemia with recurrent genetic abnormalities > AML with t(8;21)(q22;q22); RUNX1-RUNX1T1
Published Date: 02/25/2016
     
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This type of AML usually presents with non-specific signs.  The general diagnostic criterium for AML is   at least 20% blasts in the bone marrow. However, t(8;21) AML shows morphological signs of neutrophil maturation. In rare cases, there may be  bone marrow blast counts below 20%; according to the WHO classification, such cases should also be classified and treated as AML.

Marrow aspirate

The blasts are relatively large with basophilic cytoplasm, high nuclear:cytoplasm ratio, fine chromatin, prominent nucleoli, often numerous azurophilic granules and a perinuclear clearing. Auer rods are common and may be detected in blasts or immature neutrophils. The cells show some signs of maturation and may also have some signs of dysplasia.

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Flow Cytometry

Immunophenotypic analysis of the blast population typically shows expression of CD13, CD19, CD33, CD34, CD117, and HLA-DR .

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Cytogenetics

Acute myeloid leukemia with the t(8;21)(q22;22).  

The translocation fuses the AML1 gene (also called RUNX1) on chromosome 21 with the ETO gene (also referred to as the RUNX1T1 gene encoding the CBFA2T1 protein) on chromosome 8.

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