title: Highly complex karyotypic changes in acute myelogenous leukemia: a case report.
abstract: We report on a patient with a clinically diagnosed acute myelogenous leukemia (AML) with so far unrecorded complex translocations. As GTG-banding was not able to resolve all karyotypic changes, spectral karyotyping (SKY) and multiplex-fluorescence in situ hybridization (M-FISH) were performed for comparison. Both methods gave nearly identical results, however, they were unable to characterize all involved chromosomal breakpoints in detail. Thus, multicolor banding (MCB) technique was applied and its results were confirmed for two large derivative chromosomes by microdissection and reverse painting. Using this battery of molecular cytogenetic approaches the karyotype of this AML case could be described as 40 approximately 44,XY,der(1)t(1;5;8;20) (1qter-->1p12::5q14.3-->5q15 or 5q15-->5q14.3::8p11.2-->8p23.? 3::20p11.1-->20p13),del(2)(q12),der(3)t(3;6),der(5)t(5;18) (5p15.33-->5q11::18q21.3-->18q23),del(6),-8,der(9)t(9;17;15),der(10)t(3;10),del(11)(q24),-15,-16,del(17),der(18) t(8;18;5;2;20)(8q24.3-->8q24.2 or 8q24.2-->8q24.3::18p11.22-->18q21.3::5q14.3-->5q11::2q32-->2q12::20q13.2-->20q13.33), der(20)t(1;20;18)(1p36.33-->1p31.3-22.3::20p11.1-->20q11.2 or 20q11.2-->20p11.1::18p11.22-->18p11.32).
authors.affiliation: Institute of Human Genetics and Anthropology, D-07740 Jena, Germany.
authors.forename: Anita
authors.initials: A
authors.lastname: Heller
authors.forename: Nikolai
authors.initials: N
authors.lastname: Rubtsov
authors.forename: Soili
authors.initials: S
authors.lastname: Kytölä
authors.forename: Tatyana V
authors.initials: TV
authors.lastname: Karamysheva
authors.forename: Olga V
authors.initials: OV
authors.lastname: Sablina
authors.forename: Marina M
authors.initials: MM
authors.lastname: Degtyareva
authors.forename: Heike
authors.initials: H
authors.lastname: Starke
authors.forename: Hermann
authors.initials: H
authors.lastname: Metzke
authors.forename: Uwe
authors.initials: U
authors.lastname: Claussen
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
mesh_terms: D002871:Chromosome Banding; D002875:Chromosomes / Q000648:ultrastructure; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D014178:Translocation, Genetic