Diagnostic Molecular Pathology

1st Edition

A Guide to Applied Molecular Testing

Editors: William Coleman Gregory Tsongalis
Hardcover ISBN: 9780128008867
eBook ISBN: 9780128011577
Imprint: Academic Press
Published Date: 21st October 2016
Page Count: 582
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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


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
      • Introduct


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About the Editor

William Coleman

William B. Coleman, PhD is Professor of Pathology and Laboratory Medicine and Director of Graduate Studies for the Molecular and Cellular Pathology Graduate Program at the University of North Carolina School of Medicine (Chapel Hill, NC). Dr. Coleman is co-director of the UNC Program in Translational Medicine, and co-director of the Environmental Pathology Predoctoral and Postdoctoral Training Program. In addition, he is affiliated with the Curriculum in Toxicology and is a member of the UNC Lineberger Comprehensive Cancer Center. Dr. Coleman is actively involved in teaching biomedical graduate students and is a three-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 on the editorial boards of Clinica Chimica Acta, The American Journal of Pathology, Experimental and Molecular Pathology, Archives of Pathology and Laboratory Medicine, and Laboratory Investigation, and has served as an ad hoc reviewer for 48 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 100 original research articles, reviews, and book chapters. In addition, Dr. Coleman has co-edited or co-authored six 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, UNC Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine, Chapel Hill, NC, USA

Gregory Tsongalis

Dr. Tsongalis’s research interests are in the pathogenesis of solid tumors, disease association of SNP genotyping and personalized medicine. He has authored/edited eight textbooks in the field of molecular pathology, published more than 170 peer reviewed manuscripts, and has been an invited speaker at both national and international meetings. Dr. Tsongalis has been the recipient of numerous investigator/scientist awards. He is on the editorial board of 9 journals including Clinical Chemistry, the Journal of Molecular Diagnostics and Clinical Chemistry and Laboratory Medicine.

Affiliations and Expertise

Professor of Pathology, Director, Molecular Pathology, and Co-Director Translational Research Program, Department of Pathology, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA


"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)