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

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

Development of a Novel One-Tube Isothermal Reverse Transcription Thermophilic Helicase-Dependent Amplification Platform for Rapid RNA Detection James Goldmeyer,

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.

EGFR Mutations in Lung Adenocarcinomas

Detection of Exon 12 Mutations in the JAK2 Gene

Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization,

Detection of Low-Level KRAS Mutations Using PNA-Mediated Asymmetric PCR Clamping and Melting Curve Analysis with Unlabeled Probes Ji Eun Oh, Hee Sun.

Rapid Detection of the Epidermal Growth Factor Receptor Mutation in Non-Small-Cell Lung Cancer for Analysis of Acquired Resistance Using Molecular Beacons

A Multiplex SNaPshot Assay as a Rapid Method for Detecting KRAS and BRAF Mutations in Advanced Colorectal Cancers Sandrine Magnin, Erika Viel, Alice.

EGFR and HER2 Genomic Gain in Recurrent Non-small Cell Lung Cancer After Surgery: Impact on Outcome to Treatment with Gefitinib and Association with EGFR.

Mutation Screening in Juvenile Polyposis Syndrome

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

Joanna Wang, Chetan Bettegowda The Journal of Molecular Diagnostics

A Pyrosequencing-Based Assay for the Rapid Detection of IDH1 Mutations in Clinical Samples Prashanth Setty, Jennifer Hammes, Thomas Rothämel, Valentina.

Jeung-Yeal Ahn, Katie Seo, Olga Weinberg, Scott D. Boyd, Daniel A

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

Rapid Real-Time PCR Assays for Detection of Klebsiella pneumoniae with the rmpA or magA Genes Associated with the Hypermucoviscosity Phenotype Laurie.

Molly Yancovitz, Joanne Yoon, Maryann Mikhail, Weiming Gai, Richard L

Influenza A Subtyping The Journal of Molecular Diagnostics

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

Detection of an Apparent Homozygous 3120G>A Cystic Fibrosis Mutation on a Routine Carrier Screen Denise LaMarche Heaney, Patrick Flume, Lauren Hamilton,

A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families Wenhui L.

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

Tetsuya Mitsudomi, MD, Hirohito Tada, MD Journal of Thoracic Oncology

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.

Dynamics of the Emergence of a Human Cytomegalovirus UL97 Mutant Strain Conferring Ganciclovir Resistance in a Pediatric Stem-Cell Transplant Recipient

Kyong-Ah Yoon, Sohee Park, Sang Hee Lee, Jin Hee Kim, Jin Soo Lee

The Human Androgen Receptor X-Chromosome Inactivation Assay for Clonality Diagnostics of Natural Killer Cell Proliferations Michaël Boudewijns, Jacques.

Detection of Exon 12 Mutations in the JAK2 Gene

Expression of Two Breast-Specific Molecules in the Lung

Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population Isabel Fernandez-Carvajal, Paulina Walichiewicz,

Analysis of Rare APC Variants at the mRNA Level

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

EGFR Exon 19 Insertions Show Good Response to Gefitinib, but Short Time to Progression in Japanese Patients Jangchul Park, MD, Chiaki Kondo, MD, Junichi.

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

Absence of the Caveolin-1 P132L Mutation in Cancers of the Breast and Other Organs Shinya Koike, Yasuhiro Kodera, Akimasa Nakao, Hiroji Iwata, Yasushi.

Development of a Quantitative Real-Time Polymerase Chain Reaction Assay for the Detection of the JAK2 V617F Mutation Elizabeth C. Wolstencroft, Katy.

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

Testing for Maternal Cell Contamination in Prenatal Samples

Detection of BRAF V600E Mutation in Colorectal Cancer

A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis Lawrence N. Hjelm, Ephrem L.H. Chin,

Larissa V. Furtado, Helmut C. Weigelin, Kojo S. J

The Pitfalls of Companion Diagnostics

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.

Identification of MGB1 as a Marker in the Differential Diagnosis of Lung Tumors in Patients with a History of Breast Cancer by Analysis of Publicly Available.

Detection of the Activating JAK2 V617F Mutation in Paraffin-Embedded Trephine Bone Marrow Biopsies of Patients with Chronic Myeloproliferative Diseases

Rapid and Sensitive Real-Time Polymerase Chain Reaction Method for Detection and Quantification of 3243A>G Mitochondrial Point Mutation Rinki Singh,

Validation of High-Resolution DNA Melting Analysis for Mutation Scanning of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Marie-Pierre.

Amplification Refractory Mutation System, a Highly Sensitive and Simple Polymerase Chain Reaction Assay, for the Detection of JAK2 V617F Mutation in Chronic.

Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B

A Real-Time PCR Assay for the Simultaneous Detection of Functional N284I and L412F Polymorphisms in the Human Toll-Like Receptor 3 Gene Robert A. Brown,

A Platform for Rapid Detection of Multiple Oncogenic Mutations With Relevance to Targeted Therapy in Non–Small-Cell Lung Cancer Zengliu Su, Dora Dias-Santagata,

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

A New Insertion/Deletion of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Accounts for 3.4% of Cystic Fibrosis Mutations in Sardinia: Implications.

Improved Detection of KIT Exon 11 Duplications in Formalin-Fixed, Paraffin-Embedded Gastrointestinal Stromal Tumors Jerzy Lasota, Bartosz Wasag, Sonja.

PTEN and PIK3CA Expression Is Associated with Prolonged Survival after Gefitinib Treatment in EGFR-Mutated Lung Cancer Patients Hideki Endoh, MD, PhD,

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

Activation of MET by Gene Amplification or by Splice Mutations Deleting the Juxtamembrane Domain in Primary Resected Lung Cancers Ryoichi Onozato, MD,

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

Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Feras M. Hantash, Joy B. Redman,

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

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

Efficacy of Erlotinib for Brain and Leptomeningeal Metastases in Patients with Lung Adenocarcinoma Who Showed Initial Good Response to Gefitinib Tatsuya.

Presentation transcript:

A Rapid, Sensitive Assay to Detect EGFR Mutation in Small Biopsy Specimens from Lung Cancer Yasushi Yatabe, Toyoaki Hida, Yoshitsugu Horio, Takayuki Kosaka, Takashi Takahashi, Tetsuya Mitsudomi The Journal of Molecular Diagnostics Volume 8, Issue 3, Pages 335-341 (July 2006) DOI: 10.2353/jmoldx.2006.050104 Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Sensitivity of the new assay. A: The sensitivity of the fragment analysis in the new assay. As few as 5% of tumor cells with the deletion could be detected. In the top of B, a brief explanation of the cycleave technology is displayed. Using this technique, as few as 5% of tumor cells with point mutation at codon 858 could be detected (bottom of B). The Journal of Molecular Diagnostics 2006 8, 335-341DOI: (10.2353/jmoldx.2006.050104) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 A representative result of the new assay. DNA was extracted from a paraffin section of the biopsy followed by simultaneous analysis using cycleave real-time PCR and fragment analysis. The entire procedure was completed within 4 hours. In this case, point mutation at codon 858 was detected, and the patient responded to gefitinib therapy. The Journal of Molecular Diagnostics 2006 8, 335-341DOI: (10.2353/jmoldx.2006.050104) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Detection of acquired mutation at codon 790. A: The sensitivity of this cycleave assay for T790M mutation. As few as 5% of tumor cells with T790M mutation could be detected. A representative result of acquired mutation at codon 790 after gefitinib treatment is displayed in B (Table 3, case 2). In contrast to the 15-bp deletion in exon 19 of the EGFR gene in both primary and recurrent tumors, T790M was detected only in the recurrent tumor, suggesting acquired mutation after gefitinib treatment. The result of the cycleave method was more obvious than that with direct sequencing. The Journal of Molecular Diagnostics 2006 8, 335-341DOI: (10.2353/jmoldx.2006.050104) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions