Diagnostic Pathology: Molecular Oncology, 3rd Edition
Hardcover
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- 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 WHO Classification of Haematolymphoid Tumours, fifth edition
- Provides expert guidance on selecting the right test(s) at the right time, as well as comparisons of molecular testing methods (e.g., FISH vs. cytogenetics)
- 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 2,400 print and online-only images, including 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. Additional digital ancillary content may publish up to 6 weeks following the publication date
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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 Mohammad A. Vasef, MD and Sibel Kantarci, PhD 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 Eric Y. Loo, MD and Mohammad A. Vasef, MD 46 PML::RARA Fusion Devon Chabot-Richards, MD 48 Reverse Transcription PCR for 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 Rearrangements and Mutations Guanghua Wang, MD 106 ROS1 Rearrangements Mohammad A. Vasef, MD and David R. Czuchlewski, MD 108 RET Rearrangements Eric Y. Loo, MD and David R. Czuchlewski, MD 110 FISH for MET Amplifications Devon Chabot-Richards, MD 114 FISH for ERBB2 (HER2) Amplifications M. Carmen Frias Kletecka, MD and Kristin Hunt Karner, MD 116 KRAS Mutations Guanghua Wang, MD 118 BRAF Mutations Yongjie Zhou, MD, PhD and Guanghua Wang, MD 120 EGFR Mutations Guanghua Wang, MD 122 Targeted Hotspot Gene Panel Using Massively Parallel Sequencing (Next-Generation Sequencing) Mohammad A. Vasef, MD and David R. Czuchlewski, MD 124 Targeted Hotspot Gene Panel Table Mohammad A. Vasef, MD and David R. Czuchlewski, MD 130 MGMT Promoter Gene Methylation Assay Devon Chabot-Richards, MD SECTION 5: MOLECULAR PATHOLOGY OF MYELOID NEOPLASMS 134 Molecular Work-Up of Myeloid Neoplasms Mohammad A. Vasef, MD and David R. Czuchlewski, MD MYELOPROLIFERATIVE NEOPLASMS 136 Chronic Myeloid Leukemia, BCR::ABL1-Positive Mohammad A. Vasef, MD, Kaaren K. Reichard, MD, and David R. Czuchlewski, MD 144 Chronic Neutrophilic Leukemia Devon Chabot-Richards, MD and David R. Czuchlewski, MD 148 Polycythemia Vera Mohammad A. Vasef, MD and M. Carmen Frias Kletecka, MD 152 Primary Myelofibrosis Devon Chabot-Richards, MD, Kaaren K. Reichard, MD, and Daniel Babu, MD 156 Essential Thrombocythemia Giovanni Insuasti-Beltran, MD 160 Chronic Eosinophilic Leukemia, NOS Devon Chabot-Richards, MD, Kaaren K. Reichard, MD, and Daniel Babu, MD 162 Myeloproliferative Neoplasm, Unclassifiable Devon Chabot-Richards, MD, Kaaren K. Reichard, MD, and Daniel Babu, MD MASTOCYTOSIS 166 Mastocytosis Mohammad A. Vasef, MD MYELOID/LYMPHOID NEOPLASMS WITH EOSINOPHILIA AND GENE REARRANGEMENT 174 Myeloid/Lymphoid Neoplasms With Eosinophilia and Tyrosine Kinase Gene Fusions Devon Chabot-Richards, MD and David R. Czuchlewski, MD PREMALIGNANT CLONAL HEMATOPOIESIS AND CYTOPENIAS 178 VEXAS Syndrome Mohammad A. Vasef, MD and Michael M. Franklin, DO 182 Clonal Hematopoiesis and Premalignant Clonal Cytopenia Mohammad A. Vasef, MD MYELODYSPLASTIC SYNDROME (MDS) 184 Overview and Classification of Myelodysplastic Syndrome Devon Chabot-Richards, MD, David R. Czuchlewski, MD, and Carla S. Wilson, MD, PhD 188 Myelodysplastic Syndrome With Mutated SF3B1 Mohammad A. Vasef, MD and Carla S. Wilson, MD, PhD 192 Myelodysplastic Syndrome, NOS Kristin Hunt Karner, MD 200 Myelodysplastic Syndrome With del(5q) Giovanni Insuasti-Beltran, MD 204 Myelodysplastic Syndrome With TP53 Multihit Mutations Kristin Hunt Karner, MD 206 Myelodysplastic Syndrome/Acute Myeloid Leukemia Kristin Hunt Karner, MD 208 Pediatric Myelodysplastic Syndrome and Refractory Cytopenia of Childhood Devon Chabot-Richards, MD and Carla S. Wilson, MD, PhD MYELODYSPLASTIC/MYELOPROLIFERATIVE NEOPLASMS 214 Overview of Myelodysplastic/Myeloproliferative Neoplasms Devon Chabot-Richards, MD 216 Chronic Myelomonocytic Leukemia Kristin Hunt Karner, MD 220 Atypical Chronic Myeloid Leukemia Devon Chabot-Richards, MD 224 Juvenile Myelomonocytic Leukemia Devon Chabot-Richards, MD and Qian-Yun Zhang, MD, PhD 228 Myelodysplastic/Myeloproliferative Neoplasm, NOS Devon Chabot-Richards, MD and Kathryn Foucar, MD ACUTE MYELOID LEUKEMIA 232 Overview of Acute Myeloid Leukemia Mohammad A. Vasef, MD and Kaaren K. Reichard, MD 240 Acute Myeloid Leukemia With t(8;21)/RUNX1::RUNX1T1 Devon Chabot-Richards, MD, Kaaren K. Reichard, MD, and David R. Czuchlewski, MD 244 Acute Myeloid Leukemia With inv(16) or t(16;16)/CBFB::MYH11 Devon Chabot-Richards, MD, Kaaren K. Reichard, MD, and David R. Czuchlewski, MD 248 Acute Promyelocytic Leukemia With t(15;17)/PML::RARA Mohammad A. Vasef, MD 254 Acute Myeloid Leukemia With t(9;11)/MLLT3::KMT2A Devon Chabot-Richards, MD, Kaaren K. Reichard, MD, and David R. Czuchlewski, MD 258 Acute Myeloid Leukemia With t(6:9)/DEK::NUP214 Eric Y. Loo, MD and David R. Czuchlewski, MD 260 Acute Myeloid Leukemia With inv(3) or t(3;3)/GATA2; MECOM Eric Y. Loo, MD and David R. Czuchlewski, MD 262 Acute Myeloid Leukemia (Megakaryoblastic) With t(1;22)/RBM15::MRTFA Eric Y. Loo, MD and David R. Czuchlewski, MD 264 Acute M