title: Efficacy of current molecular cytogenetic protocols for the diagnosis of chromosome aberrations in tumor specimens.
abstract: Molecular cytogenetics provides a powerful link between molecular genetic analysis and chromosome morphology, allowing one to pinpoint structurally aberrant chromosome regions on the molecular level. Fluorescence in situ hybridization with selected DNA probes allows the design of efficient and sensitive tools for the diagnosis of chromosomal aberrations present in tumor cells. Comparative genomic hybridization (CGH) allows the identification of chromosomal imbalances in a comprehensive manner, and is applied to solid tumors and hematological malignancies in order to (i) identify clonal differences within a specimen, (ii) contribute to tumor classifications, (iii) identify recurrent chromosomal gains and losses as starting points for the characterization and isolation of pathogenetically relevant genes, such as proto-oncogenes and tumor suppressor genes respectively, (iv) identify imbalances of prognostic relevance, (v) detect high-copy-number amplification and other markers of genetic instability, and (vi) analyze chromosomal imbalances during tumor progression.
authors.affiliation: Abteilung Organisation komplexer Genome, Deutsches Krebsforschungszentrum, Heidelberg, Germany. p.lichter@dkfz-heidelberg.de
authors.forename: P
authors.initials: P
authors.lastname: Lichter
authors.forename: K
authors.initials: K
authors.lastname: Fischer
authors.forename: S
authors.initials: S
authors.lastname: Joos
authors.forename: T
authors.initials: T
authors.lastname: Fink
authors.forename: M
authors.initials: M
authors.lastname: Baudis
authors.forename: R K
authors.initials: RK
authors.lastname: Potkul
authors.forename: S
authors.initials: S
authors.lastname: Ohl
authors.forename: S
authors.initials: S
authors.lastname: Solinas-Toldo
authors.forename: R
authors.initials: R
authors.lastname: Weber
authors.forename: S
authors.initials: S
authors.lastname: Stilgenbauer
authors.forename: M
authors.initials: M
authors.lastname: Bentz
authors.forename: H
authors.initials: H
authors.lastname: Döhner
mesh_terms: D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D003582:Cytogenetics / Q000379:methods*; D015342:DNA Probes; D018450:Disease Progression; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D009369:Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D011379:Prognosis; D014178:Translocation, Genetic
chemical_list: D015342:DNA Probes