title: Double minute chromosomes in a patient with myelodysplastic syndrome transforming into acute myeloid leukemia.
abstract: Presence of double minute chromosomes (dmin) is rare in bone marrow cells in patients with preleukemia and leukemia. We describe a case of myelodysplastic syndrome-refractory anemia with excess of blasts (MDS-RAEB) associated with two unrelated pathological chromosomal clones that developed during the progression of the disease. The patient was followed cytogenetically for a period of 4 years. At the time of transition into RAEB-T and later to acute myeloid leukemia (AML), dmin were associated with resistance to chemotherapy. Fluorescence in situ hybridization study proved that the dmin in this case were c-MYC amplicons. At the terminal stage of the disease, dmins were present in all 50 analyzed cells.
authors.affiliation: Institute of Hematology and Blood Transfusion, General Faculty Hospital, Prague, Czech Republic.
authors.forename: K
authors.initials: K
authors.lastname: Michalová
authors.forename: J
authors.initials: J
authors.lastname: Cermák
authors.forename: J
authors.initials: J
authors.lastname: Brezinová
authors.forename: Z
authors.initials: Z
authors.lastname: Zemanová
mesh_terms: D001752:Blast Crisis; D002871:Chromosome Banding; D002874:Chromosome Mapping; D020223:Chromosome Painting; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D002895:Chromosomes, Human, Pair 5; D005784:Gene Amplification; D016259:Genes, myc; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D016271:Proto-Oncogene Proteins c-myc / Q000235:genetics; D014178:Translocation, Genetic