This expert volume in the Diagnostic Pathology series is an excellent point-of-care resource for practitioners at all levels of experience and training. Providing a clear understanding of molecular pathology as it relates to the transformation and pathogenesis of cancer in an era of personalized medicine, it incorporates the most recent scientific and technical knowledge in the field to provide a comprehensive overview of all key issues relevant to today’s practice. Richly illustrated and easy to use, the third edition of Diagnostic Pathology: Molecular Oncology is a visually stunning, one-stop resource for every practicing pathologist, hematopathologist, molecular pathologist, oncologist, or pathologist in training as an ideal day-to-day reference or as a reliable learning resource. Provides up-to-date, comprehensive coverage of relevant molecular tests and their clinical applications, along with organ-based chapters on the molecular genetic data relevant to individual disease entities Contains new chapters and substantial revisions to existing content that include updates from the 2022 International Consensus Classification and the 5th edition WHO Classification of Hematolymphoid Tumors Provides expert guidance on selecting the right test(s) at the right time, as well as comparisons of molecular testing methods ( FISH vs. cytogenetics, for example) Includes current information for new actionable mutations and targeted therapies Covers ultrasensitive molecular techniques for minimal residual disease detection and disease monitoring Discusses circulating cell-free DNA analysis for detection of resistance-associated mutations and disease monitoring, and provides usage details Features an image-rich layout with more than 2,300 print and online images— high-resolution H&E stains, immunostains, FISH images, gross pathology and clinical photographs, detailed full-color medical illustrations, and informative diagrams, charts, and schematics Employs consistently templated chapters, bulleted content, key facts, a variety of tables, annotated images, pertinent references, and an extensive index for quick, expert reference at the point of care Includes an eBook version that enables you to access all text, figures, and references, with the ability to search, customize your content, make notes and highlights, and have content read aloud Molecular oncology is a rapidly evolving field with tremendous amounts of information that is new since the 2e published in March 2019. There is new molecular genetic data linked to either new targeted therapies or that serves as diagnostic or prognostic indicators. The 3e will include 8-10 new chapters and substantial updates and rewrites to existing contents to make sure ongoing edits and revisions to the upcoming WHO Classification of Hematopoietic Tumors are included in the 3e. The authors provide guidance on selecting the right test(s) at the right time for the right patient and comparisons of molecular testing methods (i.e., FSH testing vs. cytogenetics) are included. The market lacks a definitive source of all the recent changes, and DP3 Molecular Oncology will provide a comprehensive information source.
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SECTION 1: INTRODUCTION 4 Structure of Chromosomes and Nucleic Acids
Jeremy C. Wallentine, MD
8 DNA Replication, Transcription, and Translation
Jeremy C. Wallentine, MD
12 Gene Mutations
Jeremy C. Wallentine, MD
SECTION 2: COMMON TECHNIQUES FOR ANALYSIS OF ALTERATIONS IN CHROMOSOMES AND DNA
18 Cytogenetics and FISH
Mohammad A. Vasef, MD and David R. Czuchlewski, MD
22 Chromosomal Microarray
Sibel Kantarci, PhD, Durga Cherukuri, PhD, and
Mohammad A. Vasef, MD
26 Amplification Methods
Devon Chabot-Richards, MD
30 DNA High-Resolution Melting Curve Analysis
Amer Mahmoud, MD, FCAP
32 Sequencing Technologies
Eric Y. Loo, MD and Mohammad A. Vasef, MD
36 High-Throughput Methods in Molecular Pathology
Rama Gullapalli, MD, PhD
38 DNA Methylation Analysis
Devon Chabot-Richards, MD
SECTION 3: MOLECULAR GENETIC TESTS IN HEMATOPOIETIC TUMORS
42 BCR::ABL1 Fusion Gene
Eric Y. Loo, MD and Mohammad A. Vasef, MD
46 PML::RARA Fusion Gene
Devon Chabot-Richards, MD
48 Reverse Transcription PCR for Other Myeloid
Leukemia Transcripts
Kristin Hunt Karner, MD
50 FLT3, NPM1, and CEBPA Mutations
Devon Chabot-Richards, MD
54 JAK2 Mutations and Rearrangements
Mohammad A. Vasef, MD
56 MPL Mutations
Eric Y. Loo, MD and David R. Czuchlewski, MD
58 Calreticulin (CALR) Mutations
Eric Y. Loo, MD and Mohammad A. Vasef, MD
60 CSF3R Mutations
Amer Mahmoud, MD, FCAP
62 SETBP1 Mutations
Amer Mahmoud, MD, FCAP
64 KIT Mutations
Eric Y. Loo, MD and Mohammad A. Vasef, MD
68 IDH1 and IDH2 Mutations
Eric Y. Loo, MD and David R. Czuchlewski, MD
70 Other Mutations and Gene Panel Testing in Myeloid Neoplasms
Mohammad A. Vasef, MD and David R. Czuchlewski, MD
72 Immunoglobulin Heavy (IGH) Chain Gene
Rearrangements
Mohammad A. Vasef, MD and Anna P. Matynia, MD
76 T-Cell Receptor Gamma (TRG) and Delta (TRD) Chain
Rearrangements
Mohammad A. Vasef, MD and Anna P. Matynia, MD
80 T-Cell Receptor Beta (TRB) Chain Gene
Rearrangements
Mohammad A. Vasef, MD and Anna P. Matynia, MD
84 Southern Blot Analysis of Antigen Receptor Genes
Mohammad A. Vasef, MD
86 EBV-Associated Human Neoplasms
Mohammad A. Vasef, MD
94 MYD88 Mutation
Giovanni Insuasti-Beltran, MD
96 NOTCH1 Mutation
Giovanni Insuasti-Beltran, MD
98 EZH2 Mutation
Amer Mahmoud, MD, FCAP
SECTION 4: MOLECULAR GENETIC TESTS IN SOLID TUMORS, BONE AND SOFT TISSUE TUMORS, AND CNS TUMORS
104 ALK Gene Rearrangements and Mutations
Guanghua Wang, MD
106 ROS1 Rearrangements
Mohammad A. Vasef, MD and David R. Czuchlewski, MD