Duplication of chromosome 1 [dup(1)(q21q32)] as the sole cytogenetic abnormality in a patient previously treated for AML

A nonrandom structural gain of 1q may be seen in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), and often it is due to an unbalanced translocation. Dup(1)(q21q32) as the sole abnormality has only rarely been reported. Reports have suggested that the dup(1)(q21q32) is predictive of a poor prognosis. We describe a case report of a 55 year old male who presented in 2002 with AML-M2, t(8;21)(q22;q22). He underwent induction with “7+3” followed by consolidation chemotherapy resulting in a complete remission. Two years later, his bone marrow revealed a dup(1)(q21q32) as an isolated aberration for the first time. In 2010, cytogenetic analysis of the bone marrow again confirmed this finding and FISH for AML1/ETO t(8;21) remained negative. Dup(1q) developed as an isolated abnormality two years after AML treatment, and to date, there is no evidence of progression to MDS. This is the first report of an acquired dup(1)(q21q32) as the sole abnormality in a patient treated for AML. This suggests that the dup(1q) may not be exclusively associated with a poor prognosis.