The Pitfalls of Companion Diagnostics

Slides:

Advertisements

Similar presentations

Measurement of Relative Copy Number of CDKN2A/ARF and CDKN2B in Bladder Cancer by Real-Time Quantitative PCR and Multiplex Ligation-Dependent Probe Amplification.

Advertisements

CyclinD1/CyclinD3 Ratio by Real-Time PCR Improves Specificity for the Diagnosis of Mantle Cell Lymphoma Carol D. Jones, Katherine H. Darnell, Roger A.

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

High-Quality Genotyping Data from Formalin-Fixed, Paraffin-Embedded Tissue on the Drug Metabolizing Enzymes and Transporters Plus Array Hanneke I. Vos,

EGFR Mutations in Lung Adenocarcinomas

Prognostic impacts of EGFR mutation status and subtype in patients with surgically resected lung adenocarcinoma Kazuya Takamochi, MD, Shiaki Oh, MD,

Detection of Exon 12 Mutations in the JAK2 Gene

Association of Platelet-Derived Growth Factor Receptor α Mutations with Gastric Primary Site and Epithelioid or Mixed Cell Morphology in Gastrointestinal.

Triple-Negative Breast Cancer

Simultaneous Detection of Clinically Relevant Mutations and Amplifications for Routine Cancer Pathology Marlous Hoogstraat, John W.J. Hinrichs, Nicolle.

Genotyping of DNA Samples Isolated from Formalin-Fixed Paraffin-Embedded Tissues Using Preamplification Renee Baak-Pablo, Vincent Dezentje, Henk-Jan.

Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses Narasimhan Nagan, Nicole E. Faulkner,

The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients

Eligibility Criteria and Genetic Testing Results from a High-Risk Cohort for Hereditary Breast and Ovarian Cancer Syndrome in Southeastern Ontario Ricardo.

Whole Genome Amplification for Array Comparative Genomic Hybridization Using DNA Extracted from Formalin-Fixed, Paraffin-Embedded Histological Sections

Molecular Genetics of Pediatric Soft Tissue Tumors

Immunoguided Laser Assisted Microdissection Techniques for DNA Methylation Analysis of Archival Tissue Specimens Franziska C. Eberle, Jeffrey C. Hanson,

Somatic Mutations of PI3K in Early and Advanced Gallbladder Cancer

Mutation Screening in Juvenile Polyposis Syndrome

IgH PCR of Zinc Formalin-Fixed, Paraffin-Embedded Non-Lymphomatous Gastric Samples Produces Artifactual “Clonal” Bands Not Observed in Paired Tissues.

Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G

KRAS, NRAS, PIK3CA Exon 20, and BRAF Genotypes in Synchronous and Metachronous Primary Colorectal Cancers Katharina Balschun, Jochen Haag, Ann-Kathrin.

Simultaneous Detection of Clinically Relevant Mutations and Amplifications for Routine Cancer Pathology Marlous Hoogstraat, John W.J. Hinrichs, Nicolle.

Molecular Diagnosis in Ewing Family Tumors

A Lean Laboratory The Journal of Molecular Diagnostics

Implementation of Formalin-Fixed, Paraffin-Embedded Cell Line Pellets as High-Quality Process Controls in Quality Assessment Programs for KRAS Mutation.

Martin Steinau, Sonya S. Patel, Elizabeth R. Unger

ALK Status Testing in Non–Small Cell Lung Carcinoma

Thomas W. Prior, Scott J. Bridgeman

Assessment of EGFR Mutation Status in Lung Adenocarcinoma by Immunohistochemistry Using Antibodies Specific to the Two Major Forms of Mutant EGFR Marie.

Patrick R. Murray The Journal of Molecular Diagnostics

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

Low Copy Number DNA Template Can Render Polymerase Chain Reaction Error Prone in a Sequence-Dependent Manner Mansour Akbari, Marianne Doré Hansen, Jostein.

Epidermal Growth Factor Receptor (EGFR) High Gene Copy Number and Activating Mutations in Lung Adenocarcinomas Are Not Consistently Accompanied by Positivity.

Verification of Wild-Type EGFR Status in Non–Small Cell Lung Carcinomas Using a Mutant-Enriched PCR on Selected Cases Yi-Lin Chen, Cheng-Chan Lu, Shu-Ching.

High-Quality Genotyping Data from Formalin-Fixed, Paraffin-Embedded Tissue on the Drug Metabolizing Enzymes and Transporters Plus Array Hanneke I. Vos,

Pathogenicity Evaluation of BRCA1 and BRCA2 Unclassified Variants Identified in Portuguese Breast/Ovarian Cancer Families Catarina Santos, Ana Peixoto,

Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing Gemma Armengol, Virinder K. Sarhadi,

Catherine E. Keegan, Anthony A. Killeen

Target-Enriched Next-Generation Sequencing Reveals Differences between Primary and Secondary Ovarian Tumors in Formalin-Fixed, Paraffin-Embedded Tissue

PIK3CA Hotspot Mutation Scanning by a Novel and Highly Sensitive High-Resolution Small Amplicon Melting Analysis Method Panagiotis A. Vorkas, Nikoleta.

BRAF Mutation Testing in Solid Tumors

A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis Valeria Faa′, Alessandra.

Multiplex Bead Suspension Array for Screening Neisseria gonorrhoeae Antibiotic Resistance Genetic Determinants in Noncultured Clinical Samples Sergey.

The Molecular Pathology of Primary Immunodeficiencies

Highly Sensitive Droplet Digital PCR Method for Detection of EGFR-Activating Mutations in Plasma Cell–Free DNA from Patients with Advanced Non–Small Cell.

EGFR Mutations in Lung Adenocarcinomas

A Rapid, Sensitive Assay to Detect EGFR Mutation in Small Biopsy Specimens from Lung Cancer Yasushi Yatabe, Toyoaki Hida, Yoshitsugu Horio, Takayuki.

Implications for Powering Biomarker Discovery Studies

Quantitative Amplification of Genomic DNA from Histological Tissue Sections after Staining with Nuclear Dyes and Laser Capture Microdissection Torsten.

Coexistence of Tyrosine Kinase Inhibitor-Sensitizing and Resistant EGFR Mutations in an Untreated Lung Adenocarcinoma Patient and Response to Erlotinib

Mutation Detection of Epidermal Growth Factor Receptor and KRAS Genes Using the Smart Amplification Process Version 2 from Formalin-Fixed, Paraffin-Embedded.

Association of Platelet-Derived Growth Factor Receptor α Mutations with Gastric Primary Site and Epithelioid or Mixed Cell Morphology in Gastrointestinal.

Comprehensive Genomic Profiling of Malignant Effusions in Patients with Metastatic Lung Adenocarcinoma Soo-Ryum Yang, Chieh-Yu Lin, Henning Stehr, Steven.

Avoiding Pitfalls in Molecular Genetic Testing

Rapid Polymerase Chain Reaction-Based Detection of Epidermal Growth Factor Receptor Gene Mutations in Lung Adenocarcinomas Qiulu Pan, William Pao, Marc.

Evaluation of High-Resolution Melting Analysis as a Diagnostic Tool to Detect the BRAF V600E Mutation in Colorectal Tumors Martin Pichler, Marija Balic,

Karen Snow-Bailey, Ph.D., 1961–2006

Validation and Reproducibility of a Microarray-Based Gene Expression Test for Tumor Identification in Formalin-Fixed, Paraffin-Embedded Specimens Raji.

Concomitant Epidermal Growth Factor Receptor Mutation and EML4-ALK Fusion in a Patient with Multifocal Lung Adenocarcinomas Jun Fan, MD Journal of Thoracic.

Varying Mutational Alterations in Multiple Primary Melanomas

Detection of BRCA1 and BRCA2 Ashkenazi Jewish Founder Mutations in Formalin- Fixed Paraffin-Embedded Tissues Using Conventional PCR and Heteroduplex/Amplicon.

Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals.

Clinical Experience with the Cervista HPV HR Assay

Angiotensin I-Converting Enzyme

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

Optimized Allele-Specific Real-Time PCR Assays for the Detection of Common Mutations in KRAS and BRAF Alois H. Lang, Heinz Drexel, Simone Geller-Rhomberg,

Lung Adenocarcinoma Harboring Mutations in the ERBB2 Kinase Domain

Tissue Heterogeneity of EGFR Mutation in Lung Adenocarcinoma

Multicenter Evaluation of the Fully Automated PCR-Based Idylla EGFR Mutation Assay on Formalin-Fixed, Paraffin-Embedded Tissue of Human Lung Cancer Solène.

Presentation transcript:

The Pitfalls of Companion Diagnostics Scott A. Turner, Jason D. Peterson, Jason R. Pettus, Francine B. de Abreu, Christopher I. Amos, Konstantin H. Dragnev, Gregory J. Tsongalis The Journal of Molecular Diagnostics Volume 18, Issue 3, Pages 331-335 (May 2016) DOI: 10.1016/j.jmoldx.2015.12.004 Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Hematoxylin and eosin–stained formalin-fixed, paraffin-embedded tissue sections from Patient 1 (tissue section A1) displaying two distinctive morphological patterns. Gross slide with macrodissection annotation (circled region) (A) and corresponding ×10 magnification solid-pattern adenocarcinoma (B). Gross slide with macrodissection annotation (circled regions) (C) and corresponding ×10 magnification enteric-type cribriform pattern adenocarcinoma (D). The Journal of Molecular Diagnostics 2016 18, 331-335DOI: (10.1016/j.jmoldx.2015.12.004) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 Epidermal growth factor receptor (EGFR) exon 19 mutation status by capillary electrophoresis fragment analysis. Fragment lengths determined for control samples with no deletion (A), 15-bp deletion (B), and three patient samples: Patient 1 tissue section 1 (C), Patient 1 tissue section 2 (D), and Patient 2 (E). Full exon 19 fragment = 207 bp. The Journal of Molecular Diagnostics 2016 18, 331-335DOI: (10.1016/j.jmoldx.2015.12.004) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions