Molecular Pathology
Dr. Anna Kowalski
LeMay Publishing
MEDICAL
Molecular Pathology
Pathology16,464 words89 chapters
Published by LeMay Publishing. 16,464 words across 89 chapters.
About This Publication
Molecular diagnostic methods and companion diagnostics, covering the central dogma's relevance to diagnostic pathology, molecular alterations in human disease, and specimen preparation for molecular analysis.
Published by LeMay Publishing, a division of LeMay. Massachusetts.
ISBN: 979-8-0000-7046-8
Chapters
1MOLECULAR PATHOLOGY
2Molecular Diagnostic Methods and Companion Diagnostics
3ABOUT THE AUTHOR
4TABLE OF CONTENTS
5PREFACE
6CHAPTER 1
7Foundations of Molecular Pathology
81.1 Historical Development and Scope of the Discipline
91.2 The Central Dogma and Its Relevance to Diagnostic Pathology
101.3 Types of Molecular Alterations in Human Disease
111.4 Specimen Types and Preanalytical Considerations
121.5 Quality Assurance and Regulatory Frameworks
13CHAPTER 2
14Nucleic Acid Extraction and Quantification
152.1 Principles of DNA and RNA Isolation
162.2 Extraction from Formalin-Fixed Paraffin-Embedded Tissues
172.3 Extraction from Fresh and Frozen Tissues
182.4 Cell-Free Nucleic Acid Isolation from Liquid Specimens
192.5 Quantification, Purity Assessment, and Quality Metrics
20CHAPTER 3
21Polymerase Chain Reaction and Its Variants
223.1 Fundamental Principles of PCR Amplification
233.2 Real-Time Quantitative PCR
243.3 Reverse Transcription PCR
253.4 Digital PCR
263.5 Allele-Specific and Multiplex PCR Applications
273.6 Clinical Applications and Interpretive Considerations
28CHAPTER 4
29Sequencing Technologies
304.1 Sanger Sequencing: Principles and Current Applications
314.2 Next-Generation Sequencing Platforms and Chemistries
324.3 Targeted Panel Sequencing
334.4 Whole-Exome and Whole-Genome Sequencing
344.5 RNA Sequencing and Transcriptomic Analysis
354.6 Long-Read Sequencing Technologies
364.7 Bioinformatic Pipelines and Variant Interpretation
37CHAPTER 5
38In Situ Hybridization and Cytogenetic Methods
395.1 Fluorescence In Situ Hybridization
405.2 Chromogenic In Situ Hybridization
415.3 RNA In Situ Hybridization
425.4 Comparative Genomic Hybridization and Microarray Analysis
435.5 Conventional Cytogenetics and Karyotyping
44CHAPTER 6
45Companion Diagnostics in Oncology
466.1 Definition, Regulatory Framework, and Clinical Imperatives
476.2 Companion Diagnostics in Lung Cancer
486.3 Companion Diagnostics in Breast Cancer
496.4 Companion Diagnostics in Colorectal Cancer
506.5 Companion Diagnostics in Melanoma
516.6 Tumor-Agnostic Biomarkers and Pan-Cancer Diagnostics
526.7 Emerging Targets and Pipeline Considerations
53CHAPTER 7
54Liquid Biopsy and Circulating Biomarkers
557.1 Circulating Tumor DNA: Biology and Detection
567.2 Circulating Tumor Cells
577.3 Exosomes and Extracellular Vesicles
587.4 Clinical Applications: Treatment Selection, Monitoring, and Minimal Residual Disease
597.5 Analytical and Clinical Validation Challenges
60CHAPTER 8
61Molecular Diagnostics in Hematopathology
628.1 Clonality Assessment by Antigen Receptor Gene Rearrangement
638.2 Recurrent Chromosomal Translocations in Hematologic Malignancies
648.3 Molecular Classification of Acute Myeloid Leukemia
658.4 Molecular Markers in Myeloproliferative Neoplasms
668.5 Minimal Residual Disease Monitoring
67CHAPTER 9
68Molecular Diagnostics in Infectious Disease
699.1 Nucleic Acid Amplification Testing
709.2 Pathogen Identification and Genotyping
719.3 Antimicrobial Resistance Detection
729.4 Viral Load Quantification and Monitoring
739.5 Metagenomic Sequencing for Pathogen Discovery
74CHAPTER 10
75Pharmacogenomics and Precision Medicine
7610.1 Principles of Pharmacogenomic Testing
7710.2 Drug-Metabolizing Enzymes and Clinical Significance
7810.3 Implementation in Clinical Practice
7910.4 Direct-to-Consumer Testing and Ethical Considerations
80CHAPTER 11
81Emerging Technologies and Future Directions
8211.1 CRISPR-Based Diagnostics
8311.2 Artificial Intelligence and Machine Learning in Molecular Pathology
8411.3 Spatial Transcriptomics and Multi-Omics Integration
8511.4 Point-of-Care Molecular Testing
8611.5 The Evolving Role of the Molecular Pathologist
87GLOSSARY
88BIBLIOGRAPHY
89INDEX