title: Quantitative detection of rare interphase chromosome breaks and translocations by high-throughput imaging.
abstract: We report a method for the sensitive detection of rare chromosome breaks and translocations in interphase cells. HiBA-FISH (High-throughput break-apart FISH) combines high-throughput imaging with the measurement of the spatial separation of FISH probes flanking target genome regions of interest. As proof-of-principle, we apply hiBA-FISH to detect with high sensitivity and specificity rare chromosome breaks and translocations in the anaplastic large cell lymphoma breakpoint regions of NPM1 and ALK. This method complements existing approaches to detect translocations by overcoming the need for precise knowledge of translocation breakpoints and it extends traditional FISH by its quantitative nature.
authors: Cell Biology of Genomes, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA.|Program in Cell, Molecular, and Developmental Biology, Tufts University Sackler School of Biomedical Sciences, Boston, MA, 02111, USA.
authors: Bharat
authors: B
authors: Burman
authors: Cell Biology of Genomes, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA. mistelit@mail.nih.gov.
authors: Tom
authors: T
authors: Misteli
authors: NCI High-Throughput Imaging Facility, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA. gianluca.pegoraro@nih.gov.
authors: Gianluca
authors: G
authors: Pegoraro
mesh_terms: D002460:Cell Line; D019457:Chromosome Breakage; D005456:Fluorescent Dyes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007399:Interphase / Q000235:genetics*; D000090243:Nucleophosmin; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D005456:Fluorescent Dyes; C000716967:NPM1 protein, human; D000090243:Nucleophosmin; C107023:p80(NPM-ALK) protein; D011505:Protein-Tyrosine Kinases