Locus-specific multifluor FISH analysis allows physical characterization of complex chromosome abnormalities in neoplasia

David Gisselsson Nord, Nils Mandahl, Eva Pålsson, Ludmila Gorunova, Mattias Höglund

Research output: Contribution to journalArticlepeer-review

17 Citations (SciVal)

Abstract

Novel techniques in molecular cytogenetics have radically improved the ability to characterize genetic changes in neoplastic cells. In parallel, a rapid development in high-throughput genomics has resulted in detailed physical maps of the human genome. Combining these two fields, we have developed a method for the simultaneous visualization of several physically defined segments along a chromosome. Seven YAC clones and one subtelomeric cosmid clone from chromosome 12 were labeled with unique combinations of four fluors and hybridized to metaphase chromosomes from neoplastic cells. In a uterine leiomyoma and a myxoid liposarcoma with translocations 12;14 and 12;16, the breakpoints in chromosome 12 could be localized to the HMGIC and CHOP regions, respectively. In the other tumors, more complex aberrations were visualized, including two inversions in 12q with a common breakpoint between MDM2 and D12S332 in a pleomorphic adenoma, amplification of MDM2 and CDK4 in ring chromosomes from a malignant fibrous histiocytoma, and amplification of KRAS2 together with other unbalanced rearrangements in two pancreatic adenocarcinomas. Combinatorially labeled single-copy probes may thus simultaneously provide physical localization of breakpoints and an overview of complex structural rearrangements.
Original languageEnglish
Pages (from-to)347-352
JournalGenes, Chromosomes and Cancer
Volume28
Issue number3
DOIs
Publication statusPublished - 2000

Subject classification (UKÄ)

  • Medical Genetics

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