Characterization of chromosome aberrations associated with soft-tissue leiomyosarcomas by twenty-four-color karyotyping and comparative genomic hybridization analysis

Data on the chromosome aberrations associated with leiomyosarcomas of soft tissues are limited. complex. and incomplete. The aim of this study was to characterize genetic aberrations associated with this tumor group, to ident ify consistent regions of involvement and to determine correlations with cl inical outcome. Chromosomes were prepared from 10 primary soft-tissue leiom yosarcoma samples, and preparations from four of them, plus the cell line S K-LMS-I, were suitable for analysis using 24-color karyotyping by multifluo r fluorescence in situ hybridization. This method allowed rearranged chromo somes to be characterized, which would not have been possible by banding an alysis alone. The remaining six chromosome preparations were analyzed using standard Giemsa banding. The chromosome imbalances associated with all the samples were determined by comparative genomic hybridization analysis. Tak en together, the results show both intra- and intertumor heterogeneity and considerable complexity. Although no highly consistent rearrangements were found, some regions of the genome frequently were involved. including 1q21, 5p14-pter, and 20q13, which likely harbor genes that play a role in the pa thogenesis of soft-tissue leiomyosarcomas. There were no obvious correlatio ns between the chromosomal changes identified and available clinical detail s. (C) 2001 Wiley-Liss, Inc.