Diagnostic Molecular Pathology - 1st Edition - ISBN: 9780128008867, 9780128011577

Diagnostic Molecular Pathology

1st Edition

A Guide to Applied Molecular Testing

Editors: William Coleman Gregory Tsongalis
eBook ISBN: 9780128011577
Hardcover ISBN: 9780128008867
Imprint: Academic Press
Published Date: 21st October 2016
Page Count: 582
Tax/VAT will be calculated at check-out Price includes VAT (GST)
20% off
20% off
20% off
108.00
86.40
95.00
76.00
150.00
120.00
Unavailable
Price includes VAT (GST)
DRM-Free

Easy - Download and start reading immediately. There’s no activation process to access eBooks; all eBooks are fully searchable, and enabled for copying, pasting, and printing.

Flexible - Read on multiple operating systems and devices. Easily read eBooks on smart phones, computers, or any eBook readers, including Kindle.

Open - Buy once, receive and download all available eBook formats, including PDF, EPUB, and Mobi (for Kindle).

Institutional Access

Secure Checkout

Personal information is secured with SSL technology.

Free Shipping

Free global shipping
No minimum order.

Description

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing is organized around disease types (genetic disease, infectious disease, neoplastic disease, among others). In each section, the authors provide background on disease mechanisms and describe how laboratory testing is built on knowledge of these mechanisms. Sections are dedicated to general methodologies employed in testing (to convey the concepts reflected in the methods), and specific description of how these methods can be applied and are applied to specific diseases are described.

The book does not present molecular methods in isolation, but considers how other evidence (symptoms, radiology or other imaging, or other clinical tests) is used to guide the selection of molecular tests or how these other data are used in conjunction with molecular tests to make diagnoses (or otherwise contribute to clinical workup). In addition, final chapters look to the future (new technologies, new approaches) of applied molecular pathology and how discovery-based research will yield new and useful biomarkers and tests.

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing contains exercises to test readers on their understanding of how molecular diagnostic tests are utilized and the value of the information that can be obtained in the context of the patient workup. Readers are directed to an ancillary website that contains supplementary materials in the form of exercises where decision trees can be employed to simulate actual clinical decisions.

Key Features

  • Focuses on the menu of molecular diagnostic tests available in modern molecular pathology or clinical laboratories that can be applied to disease detection, diagnosis, and classification in the clinical workup of a patient
  • Explains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for prognostication of disease
  • Features an ancillary website with self-testing exercises where decision trees can be employed to simulate actual clinical decisions
  • Highlights new technologies and approaches of applied molecular pathology and how discovery-based research will yield new and useful biomarkers and tests

Readership

Medical fellows in pathology and laboratory medicine, clinical pathologists, clinical laboratory scientists, and clinicians across internal medicine subspecialties, as well as biomedical science graduate students

Table of Contents

  • Endorsements
  • Dedication
  • List of Contributors
  • Preface
  • Section I: Introduction to Molecular Testing
    • Chapter 1. Basic Concepts in Molecular Pathology—Introduction to Molecular Testing in Human Disease
      • Abstract
      • Introduction
      • Mutations and Epimutations
      • Sources of Nucleic Acids for Molecular Testing
      • Classification of Disease
      • Molecular Classification of Disease
      • Molecular Testing and Companion Diagnostics
      • Molecular Detection of Disease
      • Molecular Diagnosis of Disease
      • Molecular Prognostication of Disease
      • Perspectives
      • References
    • Chapter 2. Laboratory Approaches in Molecular Pathology—The Polymerase Chain Reaction
      • Abstract
      • Introduction
      • The Polymerase Chain Reaction
      • Components of the PCR
      • Optimization of PCR Amplification Reactions
      • Increasing PCR Specificity and Sensitivity
      • PCR Contaminants
      • Inhibitors of PCR
      • Analysis of PCR Products
      • Variations of the Typical PCR Amplification Reaction
      • References
    • Chapter 3. Next-Generation Sequencing in the Clinical Laboratory
      • Abstract
      • Introduction
      • DNA Sequencing Chemistry
      • Computer Science
      • Sequence Interpretation and Clinical Reporting
      • Conclusion
      • References
    • Chapter 4. Automation of the Molecular Diagnostic Laboratory
      • Abstract
      • Introduction
      • Automation of Nucleic Acid Extraction
      • Automation in Infectious Disease Molecular Diagnostics
      • Automation in Genetics and Molecular Oncology Diagnostics
      • Conclusions
      • References
  • Section II: Molecular Testing in Infectious Disease
    • Chapter 5. Molecular Testing for Human Imunodeficiency Virus
      • Abstract
      • Introduction
      • Background on HIV Infection and AIDS
      • Molecular Tools in the Diagnosis and Follow-Up of HIV Infection
      • Special Emphasis on the Use of HIV Molecular Tools in Specific Clinical Situations
      • New Insights in Molecular HIV Testing
      • Conclusions
      • References
    • Chapter 6. Molecular Testing in Hepatitis Virus Related Disease
      • Abstract
      • Introduction
      • HAV and HAV RNA Detection Tests
      • HBV Infection
      • HCV and HCV RNA Detection Assays
      • HDV and HDV RNA Detection
      • HEV and Detection of HEV RNA
      • GB Virus C and Molecular Detection of GB Virus C Genome
      • References
    • Chapter 7. Molecular Testing for Human Papillomaviruses
      • Abstract
      • Introduction
      • Molecular Target
      • Molecular Technologies
      • Clinical Utility
      • Limitations
      • References
    • Chapter 8. Molecular Testing for Herpes Viruses
      • Abstract
      • Introduction
      • Herpes Simplex Virus
      • Varicella-Zoster Virus
      • Epstein–Barr Virus
      • Cytomegalovirus
      • Human Herpesvirus-6
      • Human Herpesvirus-7
      • Human Herpesvirus-8
      • Conclusions
      • Acknowledgments
      • References
    • Chapter 9. Molecular Testing for Parvoviruses
      • Abstract
      • The Family Parvoviridae
      • Parvovirus B19
      • Molecular Target
      • Molecular Technologies
      • Clinical Utility
      • References
    • Chapter 10. Molecular Testing for Polyomaviruses
      • Abstract
      • Introduction
      • Molecular Targets
      • Molecular Technologies
      • Clinical Utility
      • Limitations of Testing
      • References
    • Chapter 11. Molecular Testing for Respiratory Viruses
      • Abstract
      • Introduction
      • Molecular Targets
      • Clinical Utility of Molecular Diagnostics for Respiratory Virus Infection
      • Molecular Technologies and Limitations of Testing
      • Conclusions
      • References
    • Chapter 12. Molecular Testing for Diseases Associated with Bacterial Infections
      • Abstract
      • Introduction
      • Identification of Bacteria
      • Respiratory Infections
      • Gastrointestinal Infections
      • Bloodstream Infections
      • Group B Streptococcus Screening
      • Future Perspectives
      • References
    • Chapter 13. Agents Associated with Sexually Transmitted Infections
      • Abstract
      • Introduction
      • Syphilis
      • Gonorrhea
      • Genital Chlamydia Infection
      • Mycoplasma genitalium Infection
      • Trichomoniasis
      • Future Directions
      • Concluding Remarks
      • References
    • Chapter 14. Molecular Methods for Healthcare-Acquired Infections
      • Abstract
      • Introduction
      • MRSA Molecular Diagnostic Testing and Clinical Utility
      • MRSA Molecular Typing and Clinical Utility
      • MRSA Molecular Screening/Surveillance
      • Clostridium difficile
      • C. difficile Molecular Testing and Clinical Utility
      • C. difficile Molecular Typing and Clinical Utility
      • References
    • Chapter 15. Molecular Testing in Emerging Infectious Diseases
      • Abstract
      • Background and Catalogue of Emerging Infectious Agents
      • Discovery of Emerging Infectious Agents Using Molecular Methods
      • Molecular Epidemiological Studies of Emerging Infectious Pathogens
      • Molecular Diagnostics of Emerging Infectious Pathogens
      • Limitations of Current Testing and Future Prospects
      • References
  • Section III: Molecular Testing in Genetic Disease
    • Chapter 16. Noninvasive Prenatal Screening (NIPS) for Fetal Aneuploidies
      • Abstract
      • Introduction
      • The Molecular Target: Approaches Using Plasma Nucleic Acids
      • Molecular Technologies and Clinical Utility: Four Approaches by Four Commercial Laboratories
      • Limitations of Testing
      • Conclusions and Future Directions
      • References
    • Chapter 17. Molecular Testing in Inherited Cardiomyopathies
      • Abstract
      • Introduction
      • Major Forms of Cardiomyopathy
      • Molecular Target
      • Molecular Technologies
      • Clinical Utility
      • Limitations of Testing
      • References
    • Chapter 18. Molecular Diagnostics for Coagulopathies
      • Abstract
      • Introduction
      • Molecular Targets
      • Clinical Utility
      • Limitations of Testing
      • References
    • Chapter 19. Molecular Diagnosis of Cystic Fibrosis
      • Abstract
      • Introduction
      • Molecular Target
      • Molecular Technologies
      • Clinical Utility
      • Limitations of Testing
      • References
    • Chapter 20. Molecular Testing in Hemochromatosis
      • Abstract
      • Introduction
      • Background on Disease Mechanisms
      • Clinical Strategy Leading to Diagnosis of HC
      • Clinical Strategy for Molecular Testing in Individuals
      • Clinical Strategy for Molecular Testing in Family Screening
      • Molecular Biology Methods and Strategy
      • Perspectives
      • Conclusions
      • References
  • Section IV: Molecular Testing in Oncology
    • Chapter 21. Molecular Testing in Breast Cancer
      • Abstract
      • Introduction
      • HER2 Testing by Fluorescence In Situ Hybridization
      • Breast Cancer Molecular Subtype
      • Prognostic Signatures and Prediction of Benefit from Chemotherapy
      • Conclusions
      • References
    • Chapter 22. Molecular Pathology of Prostate Cancer
      • Abstract
      • Introduction
      • Molecular Targets
      • Molecular Technologies
      • Clinical Utility
      • Limitations of Testing
      • Acknowledgments
      • Disclosures
      • References
    • Chapter 23. Molecular Testing in Lung Cancer
      • Abstract
      • Introduction
      • Molecular Targets
      • Molecular Technologies
      • Limitations of Testing
      • Clinical Utility
      • Acknowledgment
      • References
    • Chapter 24. Molecular Testing in Colorectal Cancer
      • Abstract
      • Introduction
      • Genetic Pathways to CRC
      • Hereditary Colon Cancer Syndromes
      • Biomarkers for Targeted Therapies in CRC
      • Molecular Technologies, Clinical Utility, and Limitations of Testing
      • References
    • Chapter 25. Molecular Pathology and Testing in Melanocytic Tumors
      • Abstract
      • Introduction
      • Melanoma-Associated Conditions and Syndromes
      • Molecular Analysis of Melanoma
      • Molecular Testing in Melanoma
      • Conclusions
      • References
    • Chapter 26. Molecular Testing for Glioblastoma
      • Abstract
      • Molecular Target
      • Molecular Technologies
      • Clinical Utility
      • Limitations of Testing
      • References
    • Chapter 27. Molecular Testing in Pancreatic Cancer
      • Abstract
      • Introduction
      • PDAC Biomarkers in Serum
      • PDAC Biomarkers in Pancreatic Juice
      • PDAC Biomarkers in Stool
      • PDAC Biomarkers in Urine
      • PDAC Biomarkers in Saliva
      • Summary
      • References
    • Chapter 28. Molecular Testing in Gynecologic Cancer
      • Abstract
      • Background
      • HPV and Uterine Cervical Cancer
      • Gestational Trophoblastic Disease
      • Endometrial Stromal Sarcoma
      • Adult Granulosa Cell Tumor
      • Lynch Syndrome Screening in Endometrial Cancer
      • Future Directions in Molecular Testing in Gynecologic Cancer
      • References
    • Chapter 29. The Emerging Genetic Landscape in Renal Cell Carcinoma
      • Abstract
      • Introduction
      • Molecular Targets and Technologies
      • Clinical Utility
      • Limitations of Testing
      • References
    • Chapter 30. Molecular Testing in Thyroid Cancer
      • Abstract
      • Introduction
      • Molecular Targets in Thyroid Cancer Diagnostics
      • Molecular Technologies
      • Clinical Utility
      • Limitations of Testing
      • References
    • Chapter 31. Molecular Testing in Pediatric Cancers
      • Abstract
      • Introduction
      • Retinoblastoma
      • Wilms Tumor
      • Neuroblastoma
      • References
  • Section V: Molecular Testing in Hematopathology
    • Chapter 32. Molecular Testing in Chronic Myelogenous Leukemia
      • Abstract
      • Introduction
      • Molecular Biology of CML
      • Molecular Methods
      • Indications for Testing and Interpreting Results
      • Conclusions
      • References
    • Chapter 33. Molecular Testing in Acute Myeloid Leukemia
      • Abstract
      • Introduction
      • Diagnostic Workup of AML
      • Cytogenetic Abnormalities in AML
      • Gene Mutations in AML
      • Minimal Residual Disease Testing
      • New Horizons
      • References
    • Chapter 34. Molecular Testing in Myeloproliferative Neoplasms
      • Abstract
      • Introduction
      • Molecular Pathogenesis of MPNs
      • Molecular Testing in MPNs
      • Molecular Methods for MPN Testing
      • Future Directions
      • Conclusions
      • References
    • Chapter 35. Molecular Testing in the Assessment of Bone Marrow Transplant Engraftment
      • Abstract
      • Introduction
      • Molecular Target
      • Molecular Technologies
      • Clinical Utility
      • Limitations of Testing
      • References
  • Section VI: Molecular Testing in Personalized Medicine
    • Chapter 36. Personalized Medicine in Cardiovascular Disease
      • Abstract
      • Introduction
      • Warfarin
      • Clopidogrel
      • Statins
      • Bucindolol
      • Conclusion and Future Perspective
      • References
    • Chapter 37. Personalized Medicine for Coagulopathies
      • Abstract
      • Introduction
      • Genomics of Coagulation Disorders
      • Pharmacogenomics of Antiplatelet and Anticoagulant Drugs
      • Genomics of Bleeding Disorders and Personalized Medicine in Hemophilia Care
      • References
    • Chapter 38. Personalized Medicine for Hepatitis C Virus
      • Abstract
      • Introduction
      • HCV Antiviral Treatments
      • When and in Whom to Initiate HCV Treatment
      • Initial Treatment of HCV Infection
      • Monitoring Patients Who Are Starting HCV Treatment, Are on Treatment, or Have Completed Treatment
      • Viral Resistance Variants
      • Role of Host Pharmacogenetics as Predictors of HCV Treatment Outcome
      • References
    • Chapter 39. Personalized Medicine in Cancer Treatment
      • Abstract
      • Introduction
      • Molecular Target: Fluoropyrimidines and DPYD
      • Molecular Target: Irinotecan and UGT1A1
      • Molecular Target: Rasburicase and G6PD Deficiency
      • Molecular Target: Tamoxifen and CYP2D6
      • Molecular Target: Thiopurines and Thiopurine Methyltransferase
      • Other Considerations for Personalized Medicine in Cancer Treatment
      • References
  • Section VII: The Future of Molecular Testing
    • Chapter 40. Imaging Mass Spectrometry in Clinical Pathology
      • Abstract
      • Introduction
      • Imaging Mass Spectrometry
      • Applications to Anatomic Pathology
      • Computational Approaches in IMS
      • Conclusions
      • References
    • Chapter 41. Whole Genome Sequencing in the Molecular Pathology Laboratory
      • Abstract
      • Introduction
      • Molecular Technology
      • Does WGS Add Clinical Utility?
      • Application of WGS in the Future
      • Optimism Surrounding WGS
      • References
  • Index

Details

No. of pages:
582
Language:
English
Copyright:
© Academic Press 2017
Published:
Imprint:
Academic Press
eBook ISBN:
9780128011577
Hardcover ISBN:
9780128008867

About the Editor

William Coleman

William B. Coleman, PhD is Professor of Pathology and Laboratory Medicine at the University of North Carolina School of Medicine (Chapel Hill, NC), and Director of the UNC Program in Translational Medicine. In addition, he is affiliated with the Curriculum in Toxicology, the Cancer Biology Training Program, and is a member of the UNC Lineberger Comprehensive Cancer Center. Dr. Coleman is actively involved in teaching biomedical graduate students and is a four-time recipient of the Joe W. Grisham Award for Excellence in Graduate Student Teaching from the Molecular and Cellular Pathology graduate students at UNC-Chapel Hill. Dr. Coleman is active in the leadership of the American Society for Investigative Pathology, and is a member of the American Association for Cancer Research. He serves as an associate editor for The American Journal of Pathology, BMC Cancer, and PLoS One, and serves on the editorial boards of Clinica Chimica Acta, Experimental and Molecular Pathology, Archives of Pathology and Laboratory Medicine, Laboratory Investigation, and Current Pathobiology Reports, and has served as an ad hoc reviewer for 95 other journals. Dr. Coleman’s major research interests are in the molecular pathogenesis of human cancers, with a specific interest in breast cancer epigenetics, liver carcinogenesis, and lung cancer biology. His research has been funded by the NIH/NCI, The Susan G. Komen Breast Cancer Foundation, Friends for an Earlier Breast Cancer Test, and the UNC Lineberger Comprehensive Cancer Center. Dr. Coleman is the author of over 125 original research articles, reviews, and book chapters. In addition, Dr. Coleman has co-edited or co-authored eight books on topics related to molecular pathology, molecular diagnostics, and the molecular pathogenesis of human cancer. Affiliations and Expertise Professor, Department of Pathology and Laboratory Medicine, Curriculum in Toxicology, UNC Program in Translational Medicine, UNC Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine, Chapel Hill, NC, USA

Affiliations and Expertise

PhD, Professor, Department of Pathology and Laboratory Medicine, Curriculum in Toxicology, Program in Translational Medicine, UNC Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine, Chapel Hill, NC, USA

Gregory Tsongalis

Greg Tsongalis is the Director of the Laboratory for Clinical Genomics and Advanced Technology (CGAT) at the Dartmouth-Hitchcock Medical Center and Norris Cotton Cancer Center (NCCC) in Lebanon, NH and a Professor of Pathology and Laboratory Medicine at the Audrey and Theodor Geisel School of Medicine at Dartmouth in Hanover, NH. He is a member of the NCCC Molecular Therapeutics Program and the gastrointestinal and breast cancer clinical oncology groups. In 2016 he became a member of Dartmouth College’s Program in Experimental and Molecular Medicine (PEMM), and he has served on the advisory board of the Health Care Genetics Professional Science Master’s Degree Program at the University of Connecticut (Storrs, CT). His area of expertise is in the development and implementation of clinical molecular diagnostic technologies. His research interests are in the pathogenesis of human cancers, personalized medicine and disruptive technologies. He has authored/edited twelve textbooks in the field of molecular pathology, published more than 200 peer reviewed manuscripts, and has been an invited speaker at both national and international meetings. He has served on numerous committees of the AACC, ASIP, FASEB and AMP where he is a past President. He is active in the Alliance for Clinical Trials in Oncology, the Association for Molecular Pathology, the American Association for Clinical Chemistry, the American Association of Bioanalyts, and the American Society for Investigative Pathology. He serves on the editorial boards of 8 journals including Clinical Chemistry, Experimental and Molecular Pathology, and the Journal of Molecular Diagnostics. He also serves on numerous corporate scientific advisory boards.

Affiliations and Expertise

PhD, Professor of Pathology and Laboratory Medicine, Director of Laboratory for Clinical Genomics and Advanced Technology (CGAT), Audrey and Theodor Geisel School of Medicine at Dartmouth, Dartmouth-Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, NH, USA

Reviews

"Diagnostic Molecular Pathology is destined to become an important cornerstone and go-to volume for pathologists, researchers, and clinicians—indeed anyone who wants to understand the approach and application of modern molecular techniques in disease detection and diagnosis. Drs. Coleman and Tsongalis—and their impressive stable of contributors—are to be congratulated for making the exciting and rapidly expanding science of molecular diagnosis accessible to the novice, while also providing the expert with important details on the nuances.  Beyond just a compendium of useful information, it is a well-curated journey through basic concepts, infectious diseases, malignancy, hematopathology, and genetic diseases—and even includes access to a website with lab test videos and decision-making exercises." --Richard N. Mitchell, MD, PhD (Brigham and Women's Hospital and Harvard Medical School)

"With much fanfare, molecular techniques have revolutionized clinical medicine, from diagnosis to personalized medical therapeutics.  It is with this background that Diagnostic Molecular Pathology approaches the daunting task of summarizing the advances in the field from infectious disease, heritable and acquired genetic diseases, hematological malignancies, to pharmacogenomics.  In a comprehensive publication, the editors perform a yeoman’s effort in covering this dynamic and exciting field." --Lawrence M. Silverman, PhD (University of Virginia School of Medicine)

"Diagnostic Molecular Pathology provides a panoramic view of diagnostic molecular pathology testing, written by leaders in the field.  It is a great reference and learning tool." --Dani S. Zander, MD (University of Cincinnati Medical Center)