Demonstration That Mast Cells, T Cells, and B Cells Bearing the Activating Kit Mutation D816V Occur in Clusters within the Marrow of Patients with Mastocytosis

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.

Immunoglobulin Gene Mutations and Frequent Use of VH1-69 and VH4-34 Segments in Hepatitis C Virus-Positive and Hepatitis C Virus-Negative Nodal Marginal.

Alexander A. Morley, Sue Latham, Michael J. Brisco, Pamela J

β-Catenin Expression Pattern in Stage I and II Ovarian Carcinomas

Detection of Exon 12 Mutations in the JAK2 Gene

Effectiveness of Capillary Electrophoresis Using Fluorescent-Labeled Primers in Detecting T-Cell Receptor γ Gene Rearrangements Timothy C. Greiner, Ronald.

Elevated serum tryptase levels identify a subset of patients with a myeloproliferative variant of idiopathic hypereosinophilic syndrome associated with.

Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene by A.

Allele-Specific Polymerase Chain Reaction for the Imatinib-Resistant KIT D816V and D816F Mutations in Mastocytosis and Acute Myelogenous Leukemia Christopher.

Natalia Kholod, Jacques Boniver, Philippe Delvenne

Kirby Siemering, Shehnaaz S. M. Manji, Wendy M

Molecular Genetics of Pediatric Soft Tissue Tumors

Effectiveness of Capillary Electrophoresis Using Fluorescent-Labeled Primers in Detecting T-Cell Receptor γ Gene Rearrangements Timothy C. Greiner, Ronald.

Detection of Clonally Restricted Immunoglobulin Heavy Chain Gene Rearrangements in Normal and Lesional Skin Minakshi Nihal, Debra Mikkola, Gary S. Wood

Multiplex Preamplification of Serum DNA to Facilitate Reliable Detection of Extremely Rare Cancer Mutations in Circulating DNA by Digital PCR Jennifer.

Analysis of T-Cell Clonality Using Laser Capture Microdissection and High-Resolution Microcapillary Electrophoresis Evgeny Yakirevich, Cynthia L. Jackson,

Comparison of BIOMED-2 Versus Laboratory-Developed Polymerase Chain Reaction Assays for Detecting T-Cell Receptor-γ Gene Rearrangements Keyur P. Patel,

Tiago R. Matos, Menno A. de Rie, Marcel B.M. Teunissen

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

Betaine, Dimethyl Sulfoxide, and 7-Deaza-dGTP, a Powerful Mixture for Amplification of GC-Rich DNA Sequences Marco Musso, Renata Bocciardi, Sara Parodi,

Systemic Mastocytosis Associated with Chronic Idiopathic Myelofibrosis

Ultrasensitive Detection of KRAS2 Mutations in Bile and Serum from Patients with Biliary Tract Carcinoma Using LigAmp Technology Chanjuan Shi, Arjun.

Silke Lassmann, Ulrike V

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

Ken B. Waites, Li Xiao, Vanya Paralanov, Rose M. Viscardi, John I

Rapid and Accurate Detection of Monoclonal Immunoglobulin Heavy Chain Gene Rearrangement by DNA Melting Curve Analysis in the LightCycler System Dongsheng.

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

Hillary S. Sloane, James P. Landers, Kimberly A. Kelly

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

Catherine E. Keegan, Anthony A. Killeen

Heteroduplex Formation in SMN Gene Dosage Analysis

Cecily P. Vaughn, Kojo S.J. Elenitoba-Johnson

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.

Iris Schrijver, Tiffanee J. Lenzi, Carol D. Jones, Marla J

Ultrasensitive Detection of KRAS2 Mutations in Bile and Serum from Patients with Biliary Tract Carcinoma Using LigAmp Technology Chanjuan Shi, Arjun.

Suzanne M. Morgan, Elizabeth Hodges, Tracey J

A Commercial Real-Time PCR Kit Provides Greater Sensitivity than Direct Sequencing to Detect KRAS Mutations Bárbara Angulo, Elena García-García, Rebeca.

Mast cell activation syndrome: Proposed diagnostic criteria

Successful Application of Hyperbranched Multidisplacement Genomic Amplification to Detect HIV-1 Sequences in Single Neurons Removed from Autopsy Brain.

Successful Application of a Direct Detection Slide-Based Sequential Phenotype/Genotype Assay Using Archived Bone Marrow Smears and Paraffin Embedded.

Human Urine Contains Small, 150 to 250 Nucleotide-Sized, Soluble DNA Derived from the Circulation and May Be Useful in the Detection of Colorectal Cancer

Identification of Activating c-kit Mutations in Adult-, but not in Childhood-Onset Indolent Mastocytosis: A Possible Explanation for Divergent Clinical.

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

Performance and Clinical Evaluation of a Sensitive Multiplex Assay for the Rapid Detection of Common NPM1 Mutations Michael Hafez, Fei Ye, Keith Jackson,

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

Validation of Denaturing High Performance Liquid Chromatography as a Rapid Detection Method for the Identification of Human INK4A Gene Mutations Irene.

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

Novel Polymorphism in the FMR1 Gene Resulting in a “Pseudodeletion” of FMR1 in a Commonly Used Fragile X Assay Thomas M. Daly, Arash Rafii, Rick A. Martin,

T Cell Receptor γ-Chain Gene Polymerase Chain Reaction to Diagnose Central Nervous System Involvement by Cutaneous T Cell Lymphoma Robert Taylor, Jo-Anne.

The Distribution of Gene Segments in T-Cell Receptor γ Gene Rearrangements Demonstrates the Need for Multiple Primer Sets Lyle C. Lawnicki, Ronald J.

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 and Accurate Detection of Monoclonal Immunoglobulin Heavy Chain Gene Rearrangement by DNA Melting Curve Analysis in the LightCycler System Dongsheng.

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.

Triplet Repeat Primed PCR (TP PCR) in Molecular Diagnostic Testing for Friedreich Ataxia Paola Ciotti, Emilio Di Maria, Emilia Bellone, Franco Ajmar,

Sensitive Detection of Polyalanine Expansions in PHOX2B by Polymerase Chain Reaction Using Bisulfite-Converted DNA Hidekazu Horiuchi, Ayako Sasaki, Motoki.

Steven F. Dobrowolski, Richard A. Banas, Joseph G

Comparison of Sanger Sequencing, Pyrosequencing, and Melting Curve Analysis for the Detection of KRAS Mutations Athanasios C. Tsiatis, Alexis Norris-Kirby,

Hirokatsu Yanagihori, Noritaka Oyama, Koichiro Nakamura, Fumio Kaneko

Molecular Diagnosis of Mast Cell Disorders

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,

Analytical Evaluation of Primer Engineered Multiplex Polymerase Chain Reaction– Restriction Fragment Length Polymorphism for Detection of Factor V Leiden.

Xiangfeng Cui, Helen Feiner, Honghua Li

Analysis of the lineage relationship between mast cells and basophils using the c-kit D816V mutation as a biologic signature Can N. Kocabas, MD, Akif.

Improved Detection of the KIT D816V Mutation in Patients with Systemic Mastocytosis Using a Quantitative and Highly Sensitive Real-Time qPCR Assay Thomas.

Maureen J. O'Sullivan, Peter A. Humphrey, Louis P. Dehner, John D

Detection of the Single Hotspot Mutation in the JH2 Pseudokinase Domain of Janus Kinase 2 in Bone Marrow Trephine Biopsies Derived from Chronic Myeloproliferative.

Presentation transcript:

Demonstration That Mast Cells, T Cells, and B Cells Bearing the Activating Kit Mutation D816V Occur in Clusters within the Marrow of Patients with Mastocytosis Marcia L. Taylor, Devinder Sehgal, Mark Raffeld, Harold Obiakor, Cem Akin, Rose G. Mage, Dean D. Metcalfe The Journal of Molecular Diagnostics Volume 6, Issue 4, Pages 335-342 (November 2004) DOI: 10.1016/S1525-1578(10)60529-6 Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Representative laser capture microdissection. Mast cells, lymphocytes, B cells, and T cells were obtained from lesional and non-lesional areas of bone marrow biopsy tissue from a patient with mastocytosis. Micrographs shown before and after microdissection and cells captured on cap. The Journal of Molecular Diagnostics 2004 6, 335-342DOI: (10.1016/S1525-1578(10)60529-6) Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Detection of the D816V mutation in mast cells, lymphocytes, B cells, and T cells in patients with different categories of mastocytosis. A: Indolent mastocytosis. B: Smoldering mastocytosis. C: Mastocytosis with associated hematological non-mast cell disease. Analysis of T cells and B cells in lesional areas only. A non-lesional area is defined as an area where there are a sparse number of mast cells. L, denotes lesional area; N, denotes non-lesional area. The Journal of Molecular Diagnostics 2004 6, 335-342DOI: (10.1016/S1525-1578(10)60529-6) Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Sensitivity of detection of the D816V mutation by nested PCR. Results of HinfI restriction digestion of mixtures of mutant HMC1.2 (0,5,10,50,100) and wild-type HMC1.1 cells (100,95,90,50,0) with the corresponding gel fluorescence graph. Data are representative of three experiments. The Journal of Molecular Diagnostics 2004 6, 335-342DOI: (10.1016/S1525-1578(10)60529-6) Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 4 Molecular analysis of clonality of B cells from bone marrow biopsies from a patient with mastocytosis. A: B cells obtained from lesional areas of a bone marrow biopsy from a patient with mastocytosis and from normal human appendix by LCM. B: Starting PCR product of B cells (400 to 500 cells) as well as cloned CDR3 obtained from microdissected B cells from a patient with mastocytosis and from normal human appendix. C: Corresponding IgH CDR3 VDJ sequences from the patient. The nucleotide and deduced amino acid sequences are shown with the segments encoded by D genes (regular font) and n nucleotides (bold) indicated. GenBank Accession Numbers for these and control human appendix cell sequences are given in Table 2. The Journal of Molecular Diagnostics 2004 6, 335-342DOI: (10.1016/S1525-1578(10)60529-6) Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions