Unbalanced translocations of 20q in AML and MDS often involve interstitial rather than terminal deletions of 20q

Dicentric chromosomes can occur in myelodysplastic syndromes and acute myeloid leukemia. As these unbalanced rearrangements often combine two recurrent deletions, they could be an efficient mechanism for the loss of two tumor suppressor genes in a single step. We report here that dicentric chromosomes involving chromosome 20 with loss of the 20q12 putative tumor suppressor gene are often the result of more complex rearrangements, with the 20q12 region being lost by an interstitial deletion independent of the site of translocation. We found interstitial deletions of 20q in two thirds of the two-way translocations tested. This points to a more complex mechanism of translocation involving at least three breakpoints and two separate events, and raises questions about the order of these events and the significance of these abnormalities.