Derivative (1)t(1;16)(p11;p11.1) in myelodysplastic syndrome: a case report and review of the literature

We report on the occurrence of an unbalanced translocation between chromosomes 1 and 16 as a single abnormality in an 81-year-old patient with myelodysplastic syndrome (MDS) diagnosed as refractory cytopenia with multilineage dysplasia. The derivative chromosome, causing trisomy 1q and monosomy 16q, was described on the basis of fluorescent in situ hybridization results as der(1)t(1;16)(p11;p11.1). Review of the literature showed that the der(1)t(1;16) is a rare but nonrandom abnormality in MDS, being reported to date in an additional seven MDS cases. Notably, all MDS patients carrying t(1;16) described to date are men, suggesting a putative association of this translocation with male gender in the context of MDS. The unbalanced nature of the t(1;16)(p11;p11.1) indicates that gain of 1q and/or loss of 16q might be relevant for neoplastic transformation in a subset of MDS patients.