Acute Myeloid Leukemia with 8:21 Translocation and Aberrant B-Marker Expression

Abstract

Background: Acute myeloid leukemia (AML) with t(8;21)(q22;q22) is a frequently encountered subtype of AML with recurrent genetic abnormalities, found in approximately 1–5% of AML cases. Here, we present cases of AML with t(8;21) in elderly patients with aberrant B-marker expression identified at our institution, including their clinical outcomes when treated with hypomethylating agents and BCL-2 inhibitors. Case presentation: A 60-year-old patient diagnosed with AML carried the t(8;21) chromosomal translocation. Immunophenotyping and immunohistochemistry revealed aberrant expression of B-markers, including CD19, CD79a, and PAX5. Cytogenetic analysis also identified a loss of the X chromosome, a common cytogenetic aberration in AML associated with t(8;21). Due to the patient's age and inability to tolerate intensive chemotherapy, treatment was initiated using a hypomethylating agent and a BCL-2 inhibitor. Although the initial bone marrow evaluation showed an excess of blast cells, subsequent assessments demonstrated a favorable response to the treatment, with the absence of blast cells and improvements in peripheral blood parameters. Conclusion: The presence of B-marker expression in AML with t(8;21) is a relatively common occurrence. The integration of cytogenetic and molecular investigations plays a vital role in accurately diagnosing and classifying AML. A remarkable feature of AML with t(8;21) is its high remission rate, and this holds true even in cases where standard intensive chemotherapy is not utilized. Moreover, the detection of aberrant B-marker expression, particularly CD19, signifies a favorable prognosis.