title: A FISH comparison of variant derivatives of the recurrent dic(17;20) of myelodysplastic syndromes and acute myeloid leukemia: Obligatory retention of genes on 17p and 20q may explain the formation of dicentric chromosomes.
abstract: The dic(17;20) is a recurrent unbalanced translocation occurring rarely in myelodysplastic syndromes and acute myeloid leukemia. We have studied eleven cases with the dic(17;20) or a more complex derivative, all of which showed deletion of 17p and 20q material. The tumor suppressor gene TP53 was not always lost, supporting a more distal gene as the target of these 17p deletions. All derivatives could be interpreted as having initially been formed as a dicentric chromosome, those with a larger amount of material between the centromeres having undergone further rearrangement to stabilize the chromosome while retaining proximal 17p and proximal 20q material. We propose that critical sequences on both 17p and 20q proximal to the sites of deletion must be retained during the critical 17p and 20q deletions. This would explain the excess of dicentric chromosomes resulting from 17;20 translocation, and the apparent stabilization of the unstable derivatives by further rearrangements which preserve 17p and 20q material.
authors.affiliation: Victorian Cancer Cytogenetics Service, St. Vincent's Hospital Melbourne, Australia. ruth.mackinnon@svhm.org.au
authors.forename: Ruth N
authors.initials: RN
authors.lastname: MacKinnon
authors.forename: Cris
authors.initials: C
authors.lastname: Patsouris
authors.forename: Ilse
authors.initials: I
authors.lastname: Chudoba
authors.forename: Lynda J
authors.initials: LJ
authors.lastname: Campbell
mesh_terms: D000208:Acute Disease; D043171:Chromosomal Instability; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D002890:Chromosomes, Human, Pair 20; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000175:diagnosis / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic