t(8;21) myelodysplasia, an early presentation of M2 AML

• Published in: British journal of haematology Vol. 89; no. 4; p. 890
• Main Authors: Taj, A S, Ross, F M, Vickers, M, Choudhury, D N, Harvey, J F, Barber, J C, Barton, C, Smith, A G
• Format: Journal Article
• Language: English
• Published: England 01-04-1995
• Subjects: Adult; Blotting, Southern; Chromosomes, Human, Pair 21; Chromosomes, Human, Pair 8; Female; Humans; Karyotyping; Leukemia, Myeloid, Acute - genetics; Male; Myelodysplastic Syndromes - genetics; Translocation, Genetic
• ISSN: 0007-1048
• DOI: 10.1111/j.1365-2141.1995.tb08429.x

The reciprocal translocation of genetic material between chromosomes 8 and 21, t(8;21), is usually restricted to cases of acute myeloid leukaemia (AML). Cases of AML with t(8;21) exhibit characteristic dysplastic features in myeloid and erythroid lineages with reduction in megakaryocytes. We report details of three patients presenting with myelodysplastic features; two had a typical t(8;21), and the third had a variant t(8;21) translocation. We discuss the significance of t(8;21) in the aetiology of myelodysplastic syndrome (MDS) and implications for the management of such patients.