title: Association between structural and numerical chromosomal aberrations in acute myeloblastic leukemia: a study by RT-PCR and FISH in 447 patients with de-novo AML.
abstract: We analyzed 447 patients with de novo AML using alpha-satellite probes for the chromosomes 7, 8, X, and Y and RT-PCR for t(8;21), t(15;17) and inv(16). In 130/447 patients (29%) chromosomal aberrations were found. Thirty-three patients (7%) had a t(8;21); 11 of these had the additional loss of a sex chromosome (p<0.001) and two a trisomy 8. Twenty-nine patients (6%) had a t(15;17); four of these had a trisomy 8. Sixteen patients (4%) displayed an inv(16); four of these had a trisomy 8. Twenty-two patients (5%) had a sole trisomy 8 and one patient the combination of trisomy 8 and trisomy X. Five patients (1%) displayed the loss of a Y-chromosome as the sole abnormality and two patients had a sole trisomy X. In 22 patients (5%) a monosomy 7 was found, and in none of these patients were additional chromosomal aberrations detected by RT-PCR (p < 0.05). In conclusion, trisomy 8 and the loss of a gonosome are frequently associated with structural chromosomal aberrations with a significant association of -X/Y and t(8;21). The absence of these genomic lesions in AMLs with monosomy 7 suggests that the monosomy 7 has a specific role in the development of these leukemias and their clinical course.
authors.affiliation: Department of Hematology/Oncology, Hannover Medical School, Germany. Krauter.juergen@mh-hannover.de
authors.forename: J
authors.initials: J
authors.lastname: Krauter
authors.forename: A
authors.initials: A
authors.lastname: Ganser
authors.forename: L
authors.initials: L
authors.lastname: Bergmann
authors.forename: A
authors.initials: A
authors.lastname: Raghavachar
authors.forename: D
authors.initials: D
authors.lastname: Hoelzer
authors.forename: M
authors.initials: M
authors.lastname: Lübbert
authors.forename: G
authors.initials: G
authors.lastname: Schlimok
authors.forename: R
authors.initials: R
authors.lastname: Arnold
authors.forename: H
authors.initials: H
authors.lastname: Kirchner
authors.forename: M
authors.initials: M
authors.lastname: Port
authors.forename: G
authors.initials: G
authors.lastname: Heil
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009006:Monosomy; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014314:Trisomy