New rearrangement t(3;17)(q26.3;q12) in an AML patient with a poor outcome.
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.
Macedo Silva
Maria Luiza
ML
Instituto Nacional do Câncer, INCa, Rio de Janeiro, RJ, Brasil. luizamacedo@inca.gov.br
Land
Marcelo
M
Heller
Anita
A
Abdelhay
Eliana
E
do Socorro Pombo-de-Oliveira
Maria
M
Ribeiro
Raul
R
Alves
Gilda
G
Lerner
Décio
D
Liehr
Thomas
T
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