Use of Interphase Fluorescence In Situ Hybridization as a Powerful Diagnostic Tool in Cytology

Interphase fluorescence in situ hybridization (I-FISH) using labeled nucleic acid probes detects chromosomal and genetic aberrations at a cellular level. I-FISH is a relatively fast and sensitive technique for evaluating a large number of cells and revealing more specific information than other techniques. It has been proven to be an invaluable molecular test in cytologic analyses for the detection of subtle genetic alterations that correlate with disease progression. In this postgenomic era, with the draft of the human genome available and expansion of the knowledge of tumor-specific genetic changes, the application of I-FISH probes in cytologic analysis should be of great value in the early detection, risk assessment, and monitoring of therapy efficacy in cancer. Here, we outline the principle of the I-FISH procedure, present suggestions to efficiently analyze cytologic materials, provide examples of practical applications, and discuss new aspects of the technique.

[1]  E. Schuuring,et al.  Direct visualization of dispersed 11q13 chromosomal translocations in mantle cell lymphoma by multicolor DNA fiber fluorescence in situ hybridization. , 1996, Blood.

[2]  D. Sheer,et al.  Fluorescence in situ hybridization techniques for the rapid detection of genetic prognostic factors in neuroblastoma , 2000, British Journal of Cancer.

[3]  F. Waldman,et al.  Molecular cytometry of cancer. , 1996, Human pathology.

[4]  E. Schuuring,et al.  Multiple and sensitive fluorescence in situ hybridization with rhodamine-, fluorescein-, and coumarin-labeled DNAs. , 1993, Cytogenetics and cell genetics.

[5]  A. Waggoner,et al.  Directly labeled DNA probes using fluorescent nucleotides with different length linkers. , 1994, Nucleic acids research.

[6]  R L Stears,et al.  A novel, sensitive detection system for high-density microarrays using dendrimer technology. , 2000, Physiological genomics.

[7]  S. Shim,et al.  Use of FISH to detect chromosomal translocations and deletions. Analysis of chromosome rearrangement in synovial sarcoma cells from paraffin-embedded specimens. , 1993, The American journal of pathology.

[8]  M. Slovak,et al.  Simultaneous detection of multiple genetic aberrations in single cells by spectral fluorescence in situ hybridization. , 2001, Cancer research.

[9]  A. Rosenwald,et al.  Translocation t(2;5) is not a primary event in Hodgkin's disease. Simultaneous immunophenotyping and interphase cytogenetics. , 1996, The American journal of pathology.

[10]  J W Gray,et al.  Thick-section fluorescence in situ hybridization on formalin-fixed, paraffin-embedded archival tissue provides a histogenetic profile. , 1994, The American journal of pathology.

[11]  F. Bischoff,et al.  Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH) , 1997, Human Genetics.

[12]  S. Raimondi.  Fluorescence in Situ Hybridization: Molecular Probes for Diagnosis of Pediatric Neoplastic Diseases , 2000, Cancer investigation.

[13]  M Kozubek,et al.  High-resolution cytometry of FISH dots in interphase cell nuclei. , 1999, Cytometry.

[14]  H. Moch,et al.  DNA aberrations in urinary bladder cancer detected by flow cytometry and FISH , 2004, Urological Research.

[15]  J. Gosden,et al.  Alu- and LI-Primed PCR-Generated Probes for Nonisotopie in Situ Hybridization , 1994 .

[16]  L. Liotta,et al.  Constitutional von Hippel-Lindau (VHL) gene deletions detected in VHL families by fluorescence in situ hybridization. , 1999, Cancer research.

[17]  K. Grigor,et al.  Is chromosome 9 loss a marker of disease recurrence in transitional cell carcinoma of the urinary bladder? , 1998, British Journal of Cancer.

[18]  Fluorescence in situ hybridization (fish): A user's guide to optimal preparation of cytologic specimens , 1995, Diagnostic cytopathology.

[19]  D. Catovsky,et al.  Interphase cytogenetics in chronic lymphocytic leukemia. , 1997, Cancer genetics and cytogenetics.

[20]  P. Devilee,et al.  Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84 , 2004, Human Genetics.

[21]  P. Nederlof,et al.  Quantification of inter- and intra-nuclear variation of fluorescence in situ hybridization signals. , 1992, Cytometry.

[22]  B. Schlegelberger,et al.  Simultaneous fluorescence immunophenotyping and interphase cytogenetics: a contribution to the characterization of tumor cells. , 1992, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

[23]  T. Cremer,et al.  FISH of Alu-PCR-amplified YAC clones and applications in tumor cytogenetics. , 1994, Methods in molecular biology.

[24]  G. Thomas,et al.  Multiple chromosomal mechanisms generate an EWS/FLI1 or an EWS/ERG fusion gene in Ewing tumors. , 1997, Cancer genetics and cytogenetics.

[25]  M. Simon,et al.  Characterization of a human chromosome 22 enriched bacterial artificial chromosome sublibrary. , 1995, Genetic analysis : biomolecular engineering.

[26]  C. Stratakis,et al.  Large-scale preparation of sequence-ready bacterial artificial chromosome DNA using QIAGEN columns. , 1999, BioTechniques.

[27]  N. Gutiérrez,et al.  Detection of inv(16) and t(16;16) by fluorescence in situ hybridization in acute myeloid leukemia M4Eo. , 2000, Haematologica.

[28]  K. Grigor,et al.  Aneusomy of chromosomes 7 and 17 predicts the recurrence of transitional cell carcinoma of the urinary bladder , 2000, BJU international.

[29]  S. Martin,et al.  Detection of hyperdiploid malignant cells in body cavity effusions by fluorescence in Situ hybridization on thinPrep slides , 1997, Cancer.

[30]  N. Takahashi,et al.  Lineage involvement of stem cells bearing the philadelphia chromosome in chronic myeloid leukemia in the chronic phase as shown by a combination of fluorescence-activated cell sorting and fluorescence in situ hybridization. , 1998, Blood.

[31]  C. Price.  Fluorescence in situ hybridization. , 1993, Blood reviews.

[32]  T. Hudson,et al.  Novel fluorescence in situ hybridization approaches in solid tumors. Characterization of frozen specimens, touch preparations, and cytological preparations. , 1995, The American journal of pathology.

[33]  B. Trask,et al.  Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. , 1991, Trends in genetics : TIG.

[34]  H. Höfler,et al.  Numerical abnormalities of chromosome 7 in human prostate cancer detected by fluorescence in situ hybridization (FISH) on paraffin‐embedded tissue sections with centromere‐specific dna probes , 1994, The Journal of pathology.

[35]  P. Bray-Ward,et al.  Small Marker Chromosome Identification in Metaphase and Interphase Using Centromeric Multiplex FISH (CM-FISH) , 2001, Laboratory Investigation.

[36]  C. Epstein,et al.  The mapping of transgenes by fluorescence in situ hybridization on G-banded mouse chromosomes , 1994, Mammalian Genome.

[37]  E. Schuuring,et al.  Interphase FISH detection of BCL2 rearrangement in follicular lymphoma using breakpoint‐flanking probes , 2000, Genes, chromosomes & cancer.

[38]  F. Jiang,et al.  Detection of chromosome 11q13 breakpoints by interphase fluorescence in situ hybridization. A useful ancillary method for the diagnosis of mantle cell lymphoma. , 2000, American journal of clinical pathology.

[39]  P. Bray-Ward,et al.  Improvements in cytogenetic slide preparation: controlled chromosome spreading, chemical aging and gradual denaturing. , 2001, Cytometry.

[40]  I. Buño,et al.  Diagnostic utility of fluorescence in situ hybridization in mantle‐cell lymphoma , 2000, British journal of haematology.

[41]  Harold Weintraub,et al.  DNA Dendrimers Localize Myod mRNA in Presomitic Tissues of the Chick Embryo , 2000, The Journal of cell biology.

[42]  P Komminoth,et al.  Amplification Methods to Increase the Sensitivity of In Situ Hybridization: Play CARD(S) , 1999, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

[43]  H. Avet-Loiseau.  Fish analysis at diagnosis in acute lymphoblastic leukemia. , 1999, Leukemia & lymphoma.

[44]  A R Zinsmeister,et al.  The application of fluorescent in situ hybridization to detect Mbcr/abl fusion in variant Ph chromosomes in CML and ALL. , 1993, Cancer genetics and cytogenetics.

[45]  T. Cremer,et al.  A complete set of repeat-depleted, PCR-amplifiable, human chromosome-specific painting probes , 1999, Cytogenetic and Genome Research.

[46]  T. Ried.  Interphase cytogenetics and its role in molecular diagnostics of solid tumors. , 1998, The American journal of pathology.

[47]  S. Hidaka,et al.  Differences in 20q13.2 copy number between colorectal cancers with and without liver metastasis. , 2000, Clinical cancer research : an official journal of the American Association for Cancer Research.

[48]  Chunde Li,et al.  Chromosomal Numerical Aberrations Detected by Fluorescence in situ Hybridization on Bladder Washings from Patients with Bladder Cancer , 2000, European Urology.

[49]  R. Siebert,et al.  Feasibility of simultaneous fluorescence immunophenotyping and fluorescence in situ hybridization study for the detection of estrogen receptor expression and deletions of the estrogen receptor gene in breast carcinoma cell lines , 2000, Virchows Archiv.

[50]  M. Solé,et al.  Numeric Alterations in Chromosomes 7 and 8 Detected by Fluorescent in situ Hybridization Correlate with High-Grade Localized Prostate Cancer , 1998, European Urology.

[51]  L. Bolund,et al.  Nonradioactive, sequence-specific detection of RNA in situ by primed in situ labeling (PRINS). , 1991, Experimental cell research.

[52]  D. Demetrick,et al.  Laser Capture Microdissection–Guided Fluorescence In Situ Hybridization and Flow Cytometric Cell Cycle Analysis of Purified Nuclei from Paraffin Sections , 2000, Modern Pathology.

[53]  J. Tchinda,et al.  Applications of single-color and double-color oligonucleotide primed in situ labeling in cytology. , 1997, Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.

[54]  E. Bergstralh,et al.  Aneuploidy and aneusomy of chromosome 7 detected by fluorescence in situ hybridization are markers of poor prognosis in prostate cancer. , 1994, Cancer research.

[55]  J. S. Heslop-Harrison,et al.  Direct fluorochrome-labeled DNA probes for direct fluorescent in situ hybridization to chromosomes. , 1994, Methods in molecular biology.

[56]  J. Davison,et al.  Subtracted, unique-sequence, in situ hybridization: experimental and diagnostic applications. , 1998, The American journal of pathology.

[57]  M. Hausmann,et al.  Fast-FISH Detection and Semi-Automated Image Analysis of Numerical Chromosome Aberrations in Hematological Malignancies , 1998, Analytical cellular pathology : the journal of the European Society for Analytical Cellular Pathology.

[58]  Y. Chen,et al.  Detecting activation of ribosomal protein S6 kinase by complementary DNA and tissue microarray analysis. , 2000, Journal of the National Cancer Institute.

[59]  F. Waldman,et al.  Fluorescence in situ hybridization for detecting erbB-2 amplification in breast tumor fine needle aspiration biopsies. , 1996, Acta cytologica.

[60]  A. A. Long.  In-situ polymerase chain reaction: foundation of the technology and today's options. , 1998, European journal of histochemistry : EJH.

[61]  C. Bartoli,et al.  c-erbB2/neu gene and chromosome 17 analysis in breast cancer by FISH on archival cytological fine-needle aspirates , 1999, British Journal of Cancer.

[62]  Kirschner Ls,et al.  Large-scale preparation of sequence-ready bacterial artificial chromosome DNA using QIAGEN columns. , 1999 .

[63]  L Peltonen,et al.  Visual mapping by fiber-FISH. , 1995, Genomics.

[64]  R. Cajulis,et al.  Detection of numerical chromosomal abnormalities by fluorescence in situ hybridization of interphase cell nuclei with chromosome‐specific probes on archival cytologic samples , 1996, Diagnostic cytopathology.

[65]  D J O'Kane,et al.  A comparison of cytology and fluorescence in situ hybridization for the detection of urothelial carcinoma. , 2000, The Journal of urology.

[66]  D Pinkel,et al.  Detection of bcr-abl fusion in chronic myelogeneous leukemia by in situ hybridization , 1990, Science.

[67]  L. Shaffer,et al.  Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities , 1997, Human Genetics.

[68]  W. Keith,et al.  Mapping of the gene for the human telomerase reverse transcriptase, hTERT, to chromosome 5p15.33 by fluorescence in situ hybridization. , 2000, Neoplasia.

[69]  J. Kononen,et al.  Tissue microarrays for high-throughput molecular profiling of tumor specimens , 1998, Nature Medicine.

[70]  M. Fiegl,et al.  Malignant cell detection by fluorescence in situ hybridization (FISH) in effusions from patients with carcinoma. , 2000, Human pathology.