A new complex translocation (8;22;21)(q22;q12;q22) in RUNX1/RUNX1T1 acute myeloid leukaemia.

Introduction: Acute myeloid leukaemia (AML) with t(8;21)(q22;q22) producing RUNX1-RUNX1T1 rearrangement is a distinct sub-type which is usually associated with a favourable clinical outcome. Variant forms of t(8;21) are rare. Herein we describe a novel variant of t(8;21) AML in a 25-year-old pregnant woman who presented with intermittent fever.

Case Report: Her peripheral smear and bone marrow aspirate showed many myeloblasts. Chromosomal study revealed t(8;22;21)(q22;q12;q22) and loss of X chromosome. Fluorescence in situ hybridization (FISH) using whole chromosome painting probes confirmed the three-way translocation involving chromosomes 8, 21 and 22. RUNX1-RUNX1T1 rearrangement was identified in FISH and reverse transcriptase polymerase chain reaction confirming the diagnosis of AML with variant t(8;21). The patient was treated with standard chemotherapy. She achieved morphological remission one month after induction chemotherapy.

Discussion: Although the clinical significance of variant t(8;21) is not well delineated, the evaluation of 31 such cases suggests patients with variant t(8;21) have similar prognosis to those with classical t(8;21).