Abstract

We present a novel, rare but recurrent variant three way translocation of t(8;21), t(8;16;21)(q22;q24;q22), as a primary cytogenetic abnormality, resulting in AML1/ETO fusion gene in order to clarify the clinical features and outcome of these patients. According to WHO 2008 our case is described as AML expressing both myeloid and lymphoid markers, although according to EGIL scoring system is described as Biphenotypic Acute Leukemia. Our patient was considered as a high risk patient based on his single blast population with evidence of simultaneous myeloid and B-lymphoid differentiation, the unknown implications of t(8;16;21) and the discovery of minimal residual disease shortly after the last chemotherapy cycle. Eventually, he displayed an excellent outcome after allogeneic BMT and he is in an excellent condition 4 years post diagnosis. This case could be advisable for prognostic and therapeutic purposes.

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