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

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

CC Chemokine Receptor 5 and CXC Chemokine Receptor 6 Expression by Lung CD8+ Cells Correlates with Chronic Obstructive Pulmonary Disease Severity Christine.
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.
Thomas M. Williams  The Journal of Molecular Diagnostics 
Diffuse Type Gastric and Lobular Breast Carcinoma in a Familial Gastric Cancer Patient with an E-Cadherin Germline Mutation  Gisela Keller, Holger Vogelsang,
PTEN Mutational Spectra, Expression Levels, and Subcellular Localization in Microsatellite Stable and Unstable Colorectal Cancers  Xiao-Ping Zhou, Anu.
β-Catenin Expression Pattern in Stage I and II Ovarian Carcinomas
Germline and Somatic Mutations of the STK11/LKB1 Peutz-Jeghers Gene in Pancreatic and Biliary Cancers  Gloria H. Su, Ralph H. Hruban, Ravi K. Bansal,
Detection of Exon 12 Mutations in the JAK2 Gene
Triple-Negative Breast Cancer
Statistical Considerations for Immunohistochemistry Panel Development after Gene Expression Profiling of Human Cancers  Rebecca A. Betensky, Catherine.
Volume 126, Issue 1, Pages (January 2004)
Molecular Genetics of Pediatric Soft Tissue Tumors
Tony L. Ng, Maureen J. O'Sullivan, Catherine J
Identification of the Tumor Cells in Peripheral T-Cell Lymphomas by Combined Polymerase Chain Reaction-Based T-Cell Receptor β Spectrotyping and Immunohistological.
Mutation Screening in Juvenile Polyposis Syndrome
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.
Joanna Wang, Chetan Bettegowda  The Journal of Molecular Diagnostics 
Philippe Szankasi, Mohamed Jama, David W. Bahler 
Molecular Validation of the Modified Vienna Classification of Colorectal Tumors  Tamotsu Sugai, Wataru Habano, Noriyuki Uesugi, Yu-Fei Jiao, Shin-ichi.
A Pyrosequencing-Based Assay for the Rapid Detection of IDH1 Mutations in Clinical Samples  Prashanth Setty, Jennifer Hammes, Thomas Rothämel, Valentina.
Down Syndrome and Malignancies: A Unique Clinical Relationship
A Tumor Sorting Protocol that Enables Enrichment of Pancreatic Adenocarcinoma Cells and Facilitation of Genetic Analyses  Zachary S. Boyd, Rajiv Raja,
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 
Thomas W. Prior, Scott J. Bridgeman 
Patrick R. Murray  The Journal of Molecular Diagnostics 
William L. Gerald, M.D., Ph.D, 1954–2008
A Comparative Study of Fibrous Dysplasia and Osteofibrous Dysplasia with Regard to GSα Mutation at the Arg201 Codon  Akio Sakamoto, Yoshinao Oda, Yukihide.
A Novel COL7A1 Gene Mutation in an Iranian Individual Suffering Dystrophic Epidermolysis Bullosa  Hamid Galehdari, Gholamreza Mohammadian, Somayeh Azmoon,
Low Copy Number DNA Template Can Render Polymerase Chain Reaction Error Prone in a Sequence-Dependent Manner  Mansour Akbari, Marianne Doré Hansen, Jostein.
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.
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
A 39-bp Deletion Polymorphism in PTEN in African American Individuals
A Multicenter Blinded Study to Evaluate KRAS Mutation Testing Methodologies in the Clinical Setting  Vicki Whitehall, Kayla Tran, Aarti Umapathy, Fabienne.
Target-Enriched Next-Generation Sequencing Reveals Differences between Primary and Secondary Ovarian Tumors in Formalin-Fixed, Paraffin-Embedded Tissue 
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.
Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis 
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.
A Rapid, Sensitive Assay to Detect EGFR Mutation in Small Biopsy Specimens from Lung Cancer  Yasushi Yatabe, Toyoaki Hida, Yoshitsugu Horio, Takayuki.
A c-kit Mutation in Exon 18 in Familial Mastocytosis
A Commercial Real-Time PCR Kit Provides Greater Sensitivity than Direct Sequencing to Detect KRAS Mutations  Bárbara Angulo, Elena García-García, Rebeca.
A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis  Lawrence N. Hjelm, Ephrem L.H. Chin,
Microfluidic Deletion/Insertion Analysis for Rapid Screening of KIT and PDGFRA Mutations in CD117-Positive Gastrointestinal Stromal Tumors  Alberto Zamò,
The Pitfalls of Companion Diagnostics
N. Scott Reading, Stephen D. Jenson, Jeffrey K. Smith, Megan S
Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays  Lucia Pérez-Cabornero,
Sarah E. Kerr, Cheryl B. Thomas, Stephen N. Thibodeau, Matthew J
Association of Platelet-Derived Growth Factor Receptor α Mutations with Gastric Primary Site and Epithelioid or Mixed Cell Morphology in Gastrointestinal.
Homozygous Transthyretin Mutation in an African American Male
Standard Mutation Nomenclature in Molecular Diagnostics
Rapid and Sensitive Real-Time Polymerase Chain Reaction Method for Detection and Quantification of 3243A>G Mitochondrial Point Mutation  Rinki Singh,
Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B
Richard A. King, Rebecca K. Willaert, Ramona M
Rapid Polymerase Chain Reaction-Based Detection of Epidermal Growth Factor Receptor Gene Mutations in Lung Adenocarcinomas  Qiulu Pan, William Pao, Marc.
Improved Detection of KIT Exon 11 Duplications in Formalin-Fixed, Paraffin-Embedded Gastrointestinal Stromal Tumors  Jerzy Lasota, Bartosz Wasag, Sonja.
Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency  Margarita Valdes-Flores  Journal of Investigative.
Use of Pyrosequencing of 16S rRNA Fragments to Differentiate between Bacteria Responsible for Neonatal Sepsis  Jeanne A. Jordan, Allyson R. Butchko, Mary.
Karen Snow-Bailey, Ph.D., 1961–2006
Hirokatsu Yanagihori, Noritaka Oyama, Koichiro Nakamura, Fumio Kaneko 
KIT Gene Deletions at the Intron 10−Exon 11 Boundary in GI Stromal Tumors  Christopher L. Corless, Laura McGreevey, Ajia Town, Arin Schroeder, Troy Bainbridge,
Angiotensin I-Converting Enzyme
Maureen J. O'Sullivan, Peter A. Humphrey, Louis P. Dehner, John D
A Complex Rearrangement in the APC Gene Uncovered by Multiplex Ligation- Dependent Probe Amplification  Constanze Pagenstecher, Dorothea Gadzicki, Dietlinde.
Monique A. Johnson, Marvin J. Yoshitomi, C. Sue Richards 
Presentation transcript:

Association of Platelet-Derived Growth Factor Receptor α Mutations with Gastric Primary Site and Epithelioid or Mixed Cell Morphology in Gastrointestinal Stromal Tumors  Eva Wardelmann, Aksana Hrychyk, Sabine Merkelbach-Bruse, Katharina Pauls, Jennifer Goldstein, Peter Hohenberger, Inge Losen, Christoph Manegold, Reinhard Büttner, Torsten Pietsch  The Journal of Molecular Diagnostics  Volume 6, Issue 3, Pages 197-204 (August 2004) DOI: 10.1016/S1525-1578(10)60510-7 Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 SSCP and sequence analysis in exon 18 of PDGFRα. A: GIST 47: Point mutation (T -> A) leading to an amino acid exchange from asparagine to valine; DNA fragment with altered mobility marked by an arrow. B: GIST 55: Deletion of 9 bp leading to an amino acid change in codon 842 from asparagine to alanine and to a loss of codons 843 to 845 (isoleucine, methionine, and histidine; DNA fragment with altered mobility marked by an arrow). The Journal of Molecular Diagnostics 2004 6, 197-204DOI: (10.1016/S1525-1578(10)60510-7) Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Histomorphology and expression of KIT and PDGFRα receptors in two PDGFRα-mutated GISTs: Both tumors exhibited a mixed phenotype (GIST 55 in A, GIST 47 in B; H&E). GIST 55 showed a weak KIT receptor expression (C) and a strong membranous and dot-like cytoplasmatic PDGFRα receptor expression (E). GIST 47 showed a strong, but only focal KIT receptor expression (D) and a strong membranous and cytoplasmatic PDGFRα receptor expression (F). (Original magnification, ×400, A–F). The Journal of Molecular Diagnostics 2004 6, 197-204DOI: (10.1016/S1525-1578(10)60510-7) Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions