Development of Five Dual-Color, Double-Fusion Fluorescence in Situ Hybridization Assays for the Detection of Common MLL Translocation Partners Jeannette.

Slides:

Advertisements

Similar presentations

A Genome-Wide High-Resolution Array-CGH Analysis of Cutaneous Melanoma and Comparison of Array-CGH to FISH in Diagnostic Evaluation Lu Wang, Mamta Rao,

Advertisements

EGFR Mutations in Lung Adenocarcinomas

Intratumoral Patterns of Clonal Evolution in Meningiomas as Defined by Multicolor Interphase Fluorescence in Situ Hybridization (FISH) José María Sayagués,

Whole-Genome Scanning by Array Comparative Genomic Hybridization as a Clinical Tool for Risk Assessment in Chronic Lymphocytic Leukemia Shelly R. Gunn,

Detection of TMPRSS2-ETS Fusions by a Multiprobe Fluorescence in Situ Hybridization Assay for the Early Diagnosis of Prostate Cancer Qi-Peng Sun, Liao-Yuan.

Tracy I. George, Joanna E. Wrede, Charles D. Bangs, Athena M

Detection of TMPRSS2-ETS Fusions by a Multiprobe Fluorescence in Situ Hybridization Assay for the Early Diagnosis of Prostate Cancer Qi-Peng Sun, Liao-Yuan.

Comprehensive Screening of Gene Copy Number Aberrations in Formalin-Fixed, Paraffin-Embedded Solid Tumors Using Molecular Inversion Probe–Based Single-

A Case of FIP1L1-PDGFRA-Positive Chronic Eosinophilic Leukemia with a Rare FIP1L1 Breakpoint Frédéric Lambert, Pierre Heimann, Christian Herens, Alain.

Carmo Martins, Branca Cavaco, Giovanni Tonon, Frederic J

Tony L. Ng, Maureen J. O'Sullivan, Catherine J

Harvey A. Greisman, Noah G. Hoffman, Hye Son Yi

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification Enables a Rapid and Reliable Distinction between Male FMR1 Premutation and Full-Mutation.

FISH Analysis for the Detection of Lymphoma-Associated Chromosomal Abnormalities in Routine Paraffin-Embedded Tissue Roland A. Ventura, Jose I. Martin-Subero,

Jennelle C. Hodge, Patrick P. Bedroske, Kathryn E. Pearce, William R

Homogeneous Polymerase Chain Reaction Nucleobase Quenching Assay to Detect the 1-kbp Deletion in CLN3 That Causes Batten Disease Paul G. Rothberg, Denia.

Detection of Genetic Alterations by ImmunoFISH Analysis of Whole Cells Extracted from Routine Biopsy Material Göran Mattsson, Soo Yong Tan, David J.P.

Comparative Genomic Hybridization Analysis of Astrocytomas

Analysis of HER2 Gene Amplification Using an Automated Fluorescence in Situ Hybridization Signal Enumeration System Rachel Stevens, Imad Almanaseer,

FISH Analysis of Crizotinib Target Genes ROS1/ALK/MET in Malignant Mesothelioma Sandra Salvi, PhD, Serena Varesano, PhD, Simona Boccardo, PhD, Jean Louis.

Whole-Genome Scanning by Array Comparative Genomic Hybridization as a Clinical Tool for Risk Assessment in Chronic Lymphocytic Leukemia Shelly R. Gunn,

Fluorescence in Situ Hybridization Analysis of Immunoglobulin Heavy Chain Translocations in Plasma Cell Myeloma Using Intact Paraffin Sections and Simultaneous.

Molecular Diagnosis in Ewing Family Tumors

Fluorescence In Situ Hybridization

Undifferentiated Small Round Cell Sarcomas with Rare EWS Gene Fusions

Mucinous Differentiation Correlates with Absence of EGFR Mutation and Presence of KRAS Mutation in Lung Adenocarcinomas with Bronchioloalveolar Features

The Development of a Multitarget, Multicolor Fluorescence in Situ Hybridization Assay for the Detection of Urothelial Carcinoma in Urine Irina A. Sokolova,

Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples Karina M. Sørensen,

Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families Tamim H. Shaikh, Marcia L. Budarf, Livija.

William L. Gerald, M.D., Ph.D, 1954–2008

Identification of Combinatorial Genomic Abnormalities Associated with Prostate Cancer Early Recurrence Xiaoyu Qu, Claudio Jeldres, Lena Glaskova, Cynthia.

A Multicolor FISH Assay Does Not Detect DUP25 in Control Individuals or in Reported Positive Control Cells Yanina Weiland, Jürgen Kraus, Michael R. Speicher

Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic.

Intratumoral Patterns of Clonal Evolution in Meningiomas as Defined by Multicolor Interphase Fluorescence in Situ Hybridization (FISH) José María Sayagués,

A Genome-Wide High-Resolution Array-CGH Analysis of Cutaneous Melanoma and Comparison of Array-CGH to FISH in Diagnostic Evaluation Lu Wang, Mamta Rao,

Development of an NPM1/MLF1 D-FISH Probe Set for the Detection of t(3;5)(q25;q35) Identified in Patients with Acute Myeloid Leukemia Umut Aypar, Ryan.

Chromosomal Biomarkers for Detection of Human Papillomavirus Associated Genomic Instability in Epithelial Cells of Cervical Cytology Specimens Irina.

Raymond R. Tubbs, James Pettay, Pat Roche, Mark H

The MECT1-MAML2 Gene Fusion and Benign Warthin's Tumor

A Practical Approach to the Detection of Prognostically Significant Genomic Aberrations in Multiple Myeloma Zhong Chen, Bonnie Issa, Shiang Huang, Emily.

EGFR Mutations in Lung Adenocarcinomas

Chromosomal Abnormalities in Non-Small Cell Lung Carcinomas and in Bronchial Epithelia of High-Risk Smokers Detected by Multi-Target Interphase Fluorescence.

Rapid One-Step Carrier Detection Assay of Mucolipidosis IV Mutations in the Ashkenazi Jewish Population Feras M. Hantash, Susan C. Olson, Ben Anderson,

Daynna J. Wolff, Adam Bagg, Linda D. Cooley, Gordon W. Dewald, Betsy A

Kathleen M. Murphy, Julie S. Cohen, Amy Goodrich, Patricia P

Defining Ploidy-Specific Thresholds in Array Comparative Genomic Hybridization to Improve the Sensitivity of Detection of Single Copy Alterations in Cell.

Molecular Cytogenetic Analyses of Immunoglobulin Loci in Nodular Lymphocyte Predominant Hodgkin's Lymphoma Reveal a Recurrent IGH-BCL6 Juxtaposition

Array Comparative Genomic Hybridization Detects Chromosomal Abnormalities in Hematological Cancers That Are Not Detected by Conventional Cytogenetics

Automated Multiplexing Quantum Dots in Situ Hybridization Assay for Simultaneous Detection of ERG and PTEN Gene Status in Prostate Cancer Wenjun Zhang,

The Detection of t(14;18) in Archival Lymph Nodes

Long Polymerase Chain Reaction-Based Fluorescence in Situ Hybridization Analysis of Female Carriers of X-Linked Chronic Granulomatous Disease Deletions

High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage

Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected.

Amplification and Overexpression of the EMS 1 Oncogene, a Possible Prognostic Marker, in Human Hepatocellular Carcinoma Bao-Zhu Yuan, Xiaoling Zhou,

Gayatry Mohapatra, Rebecca A. Betensky, Ezra R

Large Clinically Consequential Imbalances Detected at the Breakpoints of Apparently Balanced and Inherited Chromosome Rearrangements Sarah T. South,

Statistical Treatment of Fluorescence in Situ Hybridization Validation Data to Generate Normal Reference Ranges Using Excel Functions Allison L. Ciolino,

Disruption of ERBB2IP Is not Associated with Dystrophic Epidermolysis Bullosa in Both Father and Son Carrying a Balanced 5;13 Translocation Margarita.

Telomeric IGH Losses Detectable by Fluorescence in Situ Hybridization in Chronic Lymphocytic Leukemia Reflect Somatic VH Recombination Events Iwona Wlodarska,

Kathleen M. Murphy, Tanya Geiger, Michael J. Hafez, James R

Jie Hu, Malini Sathanoori, Sally J. Kochmar, Urvashi Surti

Fluorescence In Situ Hybridization Identifies Cryptic t(16;16)(p13;q22) Masked By del(16)(q22) in a Case of AML-M4 Eo Shakil H. Merchant, Skip Haines,

Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier Franck Pellestor, Ph.D., Jacques.

Monique A. Johnson, Marvin J. Yoshitomi, C. Sue Richards

Congenital Diaphragmatic Hernia and Chromosome 15q26: Determination of a Candidate Region by Use of Fluorescent In Situ Hybridization and Array-Based.

Primary Cutaneous CD30-Positive T-Cell Lymphoproliferative Disorders with Biallelic Rearrangements of DUSP22 Courtney R. Csikesz, Ryan A. Knudson, Patricia.

Patterns of Meiotic Recombination in Human Fetal Oocytes

ALK Gene Rearrangements: A New Therapeutic Target in a Molecularly Defined Subset of Non-small Cell Lung Cancer Benjamin Solomon, MBBS, PhD, Marileila.

The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic,

Quantification of bcl-2/JH Fusion Sequences and a Control Gene by Multiplex Real- Time PCR Coupled with Automated Amplicon Sizing by Capillary Electrophoresis

Presentation transcript:

Development of Five Dual-Color, Double-Fusion Fluorescence in Situ Hybridization Assays for the Detection of Common MLL Translocation Partners Jeannette G. Keefe, William R. Sukov, Ryan A. Knudson, Lai P. Nguyen, Cynthia Williamson, Jason P. Sinnwell, Rhett P. Ketterling The Journal of Molecular Diagnostics Volume 12, Issue 4, Pages 441-452 (July 2010) DOI: 10.2353/jmoldx.2010.090214 Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Probe design schematics for MLL, AFF1, MLLT4, MLLT3, ELL, and MLLT1 as used in the dual-color D-FISH probe assays. A: Probe schematic for the five BACs labeled in Spectrum Green, RP11-832A4, RP11-215H18, RP11-770J1, RP11-861M13, and CTC-89C10, spanning the 11q23 MLL region. B: Probe schematic for the four BACs labeled in Spectrum Orange, RP11-397E7, RP11-168E22, RP11-476C8, and RP11-529H2, spanning the 4q21 AFF1(AF4) region. C: Probe schematic for the five BACs labeled in Spectrum Orange, RP11-931J21, RP3-431P23, RP11-471L1, RP3-470B24, and RP11-164L23, spanning the 6q27 MLLT4(AF6) region. D: Probe schematic for the four BACs labeled in Spectrum Orange, RP11-15P13, RP11-336O12, RP11-73E6, and RP11-4E23, spanning the 9p22 MLLT3(AF9) region. E: Probe schematic for the four BACs labeled in Spectrum Orange, RP11-282P1, CTD-3137H5, CTD-2516F17, and CTD-2643B8, spanning the 19p13.1 ELL region. F: Probe schematic for the five BACs labeled in Spectrum Orange, CTC-232P5, CTB-66B24, CTC-503J8, RP11-114A7, and RP11-30F17, spanning the 19p13.3 MLLT1(ENL) region. Note: figures are not drawn to scale. The Journal of Molecular Diagnostics 2010 12, 441-452DOI: (10.2353/jmoldx.2010.090214) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 General strategy for the MLL pairing partner D-FISH assay. A: Each of the five assays uses the MLL probe labeled in green and a second probe labeled in red for one of the translocation partner genes (AFF1, MLLT4, MLLT3, ELL, or MLLT1). B: Ideograms of chromosome 4 and 11 with red (R) and green (G) ovals representing the 4q21 AFF1 and 11q23 MLL probe regions, respectively. Normal chromosome four homologues display a 2R signal pattern and normal chromosome 11 homologues display a 2G signal pattern. Reciprocal translocation of chromosomes 4 and 11 resulting in disruption of AFF1 and MLL causes splitting of one of the R and G signals, respectively. Subsequent juxtaposition of the split AFF1 and MLL signals results in two sets of paired R and G signals, observed as two yellow F signals. The normal chromosomes 4 and 11 remain as separate R and G signals. An overall 1R1G2F FISH signal pattern is observed. The Journal of Molecular Diagnostics 2010 12, 441-452DOI: (10.2353/jmoldx.2010.090214) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Representative interphase FISH signal patterns observed with the MLL/partner D-FISH assays. A: Nonneoplastic nucleus with a normal 2R2G signal pattern. B: Nonneoplastic nucleus with coincidental R and G signal overlap resulting in a 1R1G1F signal pattern. C: Neoplastic nucleus with a 1R1G2F signal pattern representing a balanced translocation resulting in two MLL/partner fusion signals. D: Neoplastic nucleus demonstrating a 2R2G1F signal pattern representing a complex translocation. E: Neoplastic nucleus demonstrating a 1R2G1F signal pattern indicating an unbalanced MLL/partner translocation with an associated deletion of the partner DNA at one of the translocation junctions. F: Neoplastic nucleus demonstrating a 2R1G1F signal pattern indicating an unbalanced MLL/partner translocation with an associated deletion of the MLL DNA at one of the translocation junctions. G: Neoplastic nucleus with a 1R1G3F signal pattern due to gain of an additional copy of one of the derivative chromosomes. H: Neoplastic nucleus with a 1R3G1F signal pattern indicating an unbalanced translocation and MLL duplication/trisomy of chromosome 11. I: Neoplastic nucleus with a 2R1G2F signal pattern indicating a balanced translocation and an additional copy of the partner chromosome. J and K: Abnormal signal patterns lacking a fusion (3R1G and 2R3G) are observed as a result of translocations that disrupt only one of the two genes covered by the probe set. The 3R1G signal pattern also denotes a deletion of 1 MLL signal. Arrows denote yellow fusion signals. The Journal of Molecular Diagnostics 2010 12, 441-452DOI: (10.2353/jmoldx.2010.090214) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions