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
as described in our 