title: Polysomy 13 with concomitant deletion of 13q13-14 involving the retinoblastoma gene and the D13S25 locus in a case of acute myeloid leukemia.
abstract: We herein describe a case of acute myeloblastic leukemia (AML), FAB subtype M4, with an unfavorable clinical course and a complex karyotype, including 4-9 copies of chromosome 13. Polysomy 13 was a result of clonal evolution. Fluorescence in situ hybridization (FISH) revealed a cytogenetically unrecognizable deletion within 13q13-14 that included the retinoblastoma gene (RB) and the D13S25 locus in all but one copy of chromosome 13. The only chromosome 13 that did not show a deletion affecting the q13-14 region was translocated to chromosome 7, resulting in a dic(7;13)(q21;p11). In this case, the coexistence of polysomy and a partial deletion within the same chromosome point toward a possible formation of a fusion product with oncogenic potential and its consecutive amplification as a critical alteration in this case.
authors.affiliation: Department of Oncology and Hematology, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Stefanova
authors.forename: J
authors.initials: J
authors.lastname: Dierlamm
authors.forename: L
authors.initials: L
authors.lastname: Michaux
authors.forename: P
authors.initials: P
authors.lastname: Leberecht
authors.forename: D
authors.initials: D
authors.lastname: Seeger
authors.forename: K
authors.initials: K
authors.lastname: Hinz
authors.forename: D K
authors.initials: DK
authors.lastname: Hossfeld
mesh_terms: D000368:Aged; D000782:Aneuploidy; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics / Q000648:ultrastructure*; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure; D002999:Clone Cells / Q000473:pathology; D017809:Fatal Outcome; D005784:Gene Amplification; D016161:Genes, Retinoblastoma; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics*; D008297:Male; D014411:Neoplastic Stem Cells / Q000473:pathology; D014178:Translocation, Genetic
chemical_list: D005819:Genetic Markers