Advances in Molecular Pathology reviews the year’s most important findings and updates within the field in order to provide practitioners with the current clinical information they need to improve patient outcomes. A distinguished editorial board, led by Dr. Ahmad Abou Tayoun, identifies key areas of major progress and controversy and invites preeminent specialists to contribute original articles devoted to these topics. These insightful overviews in molecular pathology inform and enhance clinical practice by bringing concepts to a clinical level and exploring their everyday impact on patient care.
1. Cover image - p. i 2. Title page - p. i 3. Table of Contents - p. i 4. Copyright - p. ii 5. Editorial Board - p. iii 6. Contributors - p. v 7. Preface - p. xvii 8. SECTION: GENETICS - p. xviii 9. Advances in Inherited Bone Marrow Failure Syndromes: Clinical Manifestations, Genetics, and Diagnostic Approaches - p. 1 10. Advances in Prenatal Genomic Sequencing - p. 15 11. SECTION: HEMATOPATHOLOGY - p. 26 12. Role of Long-read Sequencing in Comprehensive Genomic Profiling of Hematolymphoid Malignancies - p. 27 13. DNA Methylation-Based Profiling in Mature B-cell Neoplasms - p. 41 14. SECTION: SOLID TUMORS - p. 52 15. Emerging Biomarkers in Non–small Cell Lung Cancer: ERBB2 and MET Amplifications - p. 53 16. Perspectives on Homologous Recombination Repair Deficiency (HRD): Updates on Testing to Treatments - p. 69 17. A Review of Molecular Techniques and Biomarkers for the Diagnosis of Tumors of the Central Nervous System - p. 83 18. SECTION: PHARMACOGENOMICS - p. 95 19. Economic Analysis of Pharmacogenomics: Challenges and Progress - p. 97 20. SECTION: INFECTIOUS DISEASE - p. 112 21. A Beginner’s Guide to Assay Development for Emerging Pathogens - p. 113 22. Current State of Metagenomics for Infectious Diseases Diagnosis: Limitations and Future Directions - p. 131 23. Molecular Detection of Antimicrobial Resistance Markers, Clinical Application, and Limitations - p. 145 24. SECTION: HOT TOPICS - p. 161 25. Health Disparities and Precision Medicine - p. 163 26. The Near Future of Cancer Cytogenetics: Whole Genome Sequencing, Long-Read Sequencing, or Optical Genome Mapping? - p. 175 27. Economics of Molecular Pathology - p. 189
Advances in Molecular Pathology reviews the year’s most important findings and updates within the field in order to provide practitioners with the current clinical information they need to improve patient outcomes. A distinguished editorial board, led by Dr. Ahmad Abou Tayoun, identifies key areas of major progress and controversy and invites preeminent specialists to contribute original articles devoted to these topics. These insightful overviews in molecular pathology inform and enhance clinical practice by bringing concepts to a clinical level and exploring their everyday impact on patient care.
1. Cover image - p. i 2. Title page - p. i 3. Table of Contents - p. i 4. Copyright - p. ii 5. Editorial Board - p. iii 6. Contributors - p. v 7. Preface - p. xvii 8. SECTION: GENETICS - p. xviii 9. Advances in Inherited Bone Marrow Failure Syndromes: Clinical Manifestations, Genetics, and Diagnostic Approaches - p. 1 10. Advances in Prenatal Genomic Sequencing - p. 15 11. SECTION: HEMATOPATHOLOGY - p. 26 12. Role of Long-read Sequencing in Comprehensive Genomic Profiling of Hematolymphoid Malignancies - p. 27 13. DNA Methylation-Based Profiling in Mature B-cell Neoplasms - p. 41 14. SECTION: SOLID TUMORS - p. 52 15. Emerging Biomarkers in Non–small Cell Lung Cancer: ERBB2 and MET Amplifications - p. 53 16. Perspectives on Homologous Recombination Repair Deficiency (HRD): Updates on Testing to Treatments - p. 69 17. A Review of Molecular Techniques and Biomarkers for the Diagnosis of Tumors of the Central Nervous System - p. 83 18. SECTION: PHARMACOGENOMICS - p. 95 19. Economic Analysis of Pharmacogenomics: Challenges and Progress - p. 97 20. SECTION: INFECTIOUS DISEASE - p. 112 21. A Beginner’s Guide to Assay Development for Emerging Pathogens - p. 113 22. Current State of Metagenomics for Infectious Diseases Diagnosis: Limitations and Future Directions - p. 131 23. Molecular Detection of Antimicrobial Resistance Markers, Clinical Application, and Limitations - p. 145 24. SECTION: HOT TOPICS - p. 161 25. Health Disparities and Precision Medicine - p. 163 26. The Near Future of Cancer Cytogenetics: Whole Genome Sequencing, Long-Read Sequencing, or Optical Genome Mapping? - p. 175 27. Economics of Molecular Pathology - p. 189
