title: New rearrangement t(3;17)(q26.3;q12) in an AML patient with a poor outcome.
abstract: In more than 90% of acute promyelocytic leukemia (APL) cases a reciprocal translocation t(15;17)(q22;q12) can be observed. The RARalpha gene on 17q12 is known to have other translocation partners than PML (in 15q22) in a minority of APL cases. Here, we describe a previously unrecorded chromosomal translocation involving the RARalpha gene and an unknown partner on chromosome 3. The chromosomal rearrangement was studied in detail by 24-color-FISH using whole chromosome painting probes plus multicolor banding. Thus, the breakpoint could be characterized as t(3;17) (q26;q12). In this case 10% of blasts showed AML-M3 characteristics although typical rearrangements with RARalpha were not detected by molecular methods. The characterization of the present and other comparable APL-cases with exceptional translocation partners of PML or RARalpha will help to enlighten the understanding of the pathogenesis of APL.
authors.affiliation: Instituto Nacional do Câncer, INCa, Rio de Janeiro, RJ, Brasil. luizamacedo@inca.gov.br
authors.forename: Maria Luiza
authors.initials: ML
authors.lastname: Macedo Silva
authors.forename: Marcelo
authors.initials: M
authors.lastname: Land
authors.forename: Anita
authors.initials: A
authors.lastname: Heller
authors.forename: Eliana
authors.initials: E
authors.lastname: Abdelhay
authors.forename: Maria
authors.initials: M
authors.lastname: do Socorro Pombo-de-Oliveira
authors.forename: Raul
authors.initials: R
authors.lastname: Ribeiro
authors.forename: Gilda
authors.initials: G
authors.lastname: Alves
authors.forename: Décio
authors.initials: D
authors.lastname: Lerner
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics / Q000473:pathology*; D008297:Male; D032681:Spectral Karyotyping; D014178:Translocation, Genetic