Molecular Pathology

Molecular Pathology

The Molecular Basis of Human Disease

1st Edition - February 10, 2009

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  • Editors: William Coleman, Gregory Tsongalis
  • eBook ISBN: 9780080922195

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Molecular Pathology: The Molecular Basis of Human Disease provides a current and comprehensive view of the molecular basis and mechanisms of human disease. Combining accepted principles with broader theoretical concepts and with contributions from a group of experts, the book looks into disease processes in the context of traditional pathology and their implications for translational molecular medicine. It also discusses concepts in molecular biology and genetics, recent scientific and technological advances in modern pathology, the concept of ""molecular pathogenesis"" of disease, and how disease evolves from normal cells and tissues due to perturbations in molecular pathways. The book describes the integration of molecular and cellular pathogenesis using a bioinformatics approach and a systems biology approach to disease pathogenesis. It also discusses current and future strategies in molecular diagnosis of human disease, and the impact of molecular diagnosis on treatment decisions and the practice of personalized medicine. This book is a valuable resource for students, biomedical researchers, practicing physician-scientists who undertake disease-related basic science and translational research, and pathology residents and other postdoctoral fellows.

Key Features

  • Exam Master® web site will host "Self-assessment" questions that students can use to study for the molecular section of the board exam
  • Teaches from the perspective of “integrative systems biology,” which encompasses the intersection of all molecular aspects of biology, as applied to understanding human disease
  • Outlines the principles and practice of molecular pathology
  • Explains the practice of “molecular medicine” and the translational aspects of molecular pathology


Medical students, pathology graduate students, biomedical graduate students, and some allied health students.

Table of Contents

  • List of Contributors




    Part I Essential Pathology – Mechanisms of Disease

        Chapter 1 Molecular Mechanisms of Cell Death


             Modes of Cell Death

             Structural Features of Necrosis and Apoptosis

             Cellular and Molecular Mechanisms Underlying Necrotic Cell Death

             Pathways to Apoptosis



             Endoplasmic Reticulum


             Concluding Remark

        Chapter 2 Acute and Chronic Inflammation Induces Disease Pathogenesis


             Leukocyte Adhesion, Migration, and Activation

             Acute Inflammation and Disease Pathogenesis

             Pattern Recognition Receptors and Inflammatory Responses

             Chronic Inflammation and Acquired Immune Responses

             Tissue Remodeling During Acute and Chronic Inflammatory Disease

        Chapter 3 Infection and Host Response

             Microbes and Hosts—Balance of Power?

             The Structure of the Immune Response

             Regulation of Immunity

             Pathogen Strategies

             The African Trypanosome and Antibody Diversity: Dueling Genomes

             Staphylococcus Aureus: the Extracellular Battleground

             Mycobacterium Tuberculosis and the Macrophage

             Herpes Simplex Virus: Taking Over

             HIV: The Immune Guerilla


        Chapter 4 Neoplasia


             Cancer Statistics and Epidemiology

             Classification of Neoplastic Diseases

             Characteristics of Benign and Malignant Neoplasms

             Clinical Aspects of Neoplasia

    Part II Concepts in Molecular Biology and Genetics

        Chapter 5 Basic Concepts in Human Molecular Genetics


             Molecular Structure of DNA, DNA Transcription, and Protein Translation

             Molecular Pathology and DNA Repair Mechanisms

             Modes of Inheritance

             Central Dogma and Rationale for Genetic Testing

             Allelic Heterogeneity and Choice of Analytical Methodology


        Chapter 6 The Human Genome: Implications for the Understanding of Human Disease


             Structure and Organization of the Human Genome

             Overview of the Human Genome Project

             Impact of the Human Genome Project on the Identification of Disease-Related Genes

             Sources of Variation in the Human Genome

             Types of Genetic Diseases

             Genetic Diseases and Cancer


        Chapter 7 The Human Transcriptome: Implications for the Understanding of Human Disease


             Gene Expression Profiling: The Search for Candidate

             Genes Involved in Pathogenesis

             Transcriptome Analysis Based on Microarrays: Technical Prerequisites

             Microarrays: Bioinformatic Analysis

             Microarrays: Applications in Basic Research and Translational Medicine Perspectives

        Chapter 8 The Human Epigenome: Implications for the Understanding of Human Disease


             Epigenetic Regulation of the Genome

             Genomic Imprinting

             Cancer Epigenetics

             Human Disorders Associated with Epigenetics

             Environment and the Epigenome

        Chapter 9 Clinical Proteomics and Molecular Pathology

             Understanding Cancer at the Molecular Level: An Evolving Frontier

             Microdissection Technology Brings Molecular Analysis to the Tissue Level

             Serum Proteomics: An Emerging Landscape for Early Stage Cancer Detection

        Chapter 10 Integrative Systems Biology: Implications for the Understanding of Human Disease


             Data Generation

             Data Integration

             Modeling Systems

             Implications for Understanding Disease


    Part III Principles and Practice of Molecular Pathology

        Chapter 11 Pathology: The Clinical Description of Human Disease


             Terms, Definitions, and Concepts

             A Brief History of Approaches to Disease

             Current Practice of Pathology

             The Future of Diagnostic Pathology


        Chapter 12 Understanding Molecular Pathogenesis: The Biological Basis of Human Disease and Implications for Improved Treatment of Human Disease


             Hepatitis C Virus Infection

             Acute Myeloid Leukemia

             Cystic Fibrosis

        Chapter 13 Integration of Molecular and Cellular Pathogenesis: A Bioinformatics



             Overview of Bioinformatics

             Database Resources

             Data Analysis

             The Future of Bioinformatics

        Chapter 14 Molecular Basis of Cardiovascular Disease


             General Molecular Principles of Cardiovascular


             The Cells of Cardiovascular Organs


             Ischemic Heart Disease



             Valvular Heart Disease


        Chapter 15 Molecular Basis of Hemostatic and Thrombotic Diseases

             Introduction and Overview of Coagulation

             Disorders of Soluble Clotting Factors

             Disorders of Fibrinolysis

             Disorders of Platelet Number or Function


        Chapter 16 Molecular Basis of Lymphoid and Myeloid Diseases

             Development of the Blood and Lymphoid Organs

             Myeloid Disorders

             Lymphocyte Disorders

        Chapter 17 Molecular Basis of Diseases of Immunity


             Normal Immune System

             Major Syndromes

        Chapter 18 Molecular Basis of Pulmonary Disease


             Neoplastic Lung and Pleural Diseases

             Non-neoplastic Lung Disease

             Obstructive Lung Diseases

             Interstitial Lung Diseases

             Pulmonary Vascular Diseases

             Pulmonary Infections

             Pulmonary Histiocytic Diseases

             Pulmonary Occupational Diseases

             Developmental Abnormalities

        Chapter 19 Molecular Basis of Diseases of the Gastrointestinal Tract


             Gastric Cancer

             Colorectal Cancer

        Chapter 20 Molecular Basis of Liver Disease


             Molecular Basis of Liver Development

             Molecular Basis of Liver Regeneration

             Adult Liver Stem Cells in Liver Health and Disease

             Molecular Basis of Hepatocyte Death

             Molecular Basis of Nonalcoholic Fatty Liver Disease

             Molecular Basis of Alcoholic Liver Disease

             Molecular Basis of Hepatic Fibrosis and Cirrhosis

             Molecular Basis of Hepatic Tumors

        Chapter 21 Molecular Basis of Diseases of the Exocrine Pancreas

             Acute Pancreatitis

             Chronic and Hereditary Pancreatitis


        Chapter 22 Molecular Basis of Diseases of the Endocrine System


             The Pituitary Gland

             The Thyroid Gland

             The Parathyroid Gland

             The Adrenal Gland


        Chapter 23 Molecular Basis of Gynecologic Diseases


             Benign and Malignant Tumors of the Female

             Reproductive Tract

             Disorders Related to Pregnancy

        Chapter 24 Molecular Pathogenesis of Prostate Cancer: Somatic, Epigenetic, and Genetic Alterations


             Hereditary Component of Prostate Cancer Risk

             Somatic Alterations in Gene Expression


             Advances in Mouse Models of Prostate Cancer



        Chapter 25 Molecular Biology of Breast Cancer


             Traditional Breast Cancer Classification


             Gene Expression Profiling


        Chapter 26 Molecular Basis of Skin Disease


             Skin Diseases and Their Impact

             Molecular Basis of Healthy Skin

             Skin Development and Maintenance Provide New Insight into the Molecular Mechanisms of Disease

             Molecular Pathology of Mendelian Genetic Skin Disorders

             Molecular Pathology of Common Inflammatory Skin Diseases

             Skin Proteins as Targets for Inherited and Acquired Disorders

             Molecular Pathology of Skin Cancer

             Molecular Diagnosis of Skin Disease

             New Molecular Mechanisms and Novel Therapies

        Chapter 27 Molecular Pathology: Neuropathology

             Anatomy of the Central Nervous System

             Neurodevelopmental Disorders

             Neurological Injury: Stroke, Neurodegeneration, and Toxicants


             Disorders of Myelin

    Part V Practice of Molecular Medicine

        Chapter 28 Molecular Diagnosis of Human Disease


             History of Molecular Diagnostics

             Molecular Laboratory Subspecialties

             Future Applications

        Chapter 29 Molecular Assessment of Human Disease in the Clinical Laboratory


             The Current Molecular Infectious Disease Paradigm

             A New Paradigm for Molecular Diagnostic Applications

             BCR-ABL: A Model for the New Paradigm


        Chapter 30 Pharmacogenomics and Personalized Medicine in the Treatment of Human





Product details

  • No. of pages: 664
  • Language: English
  • Copyright: © Academic Press 2009
  • Published: February 10, 2009
  • Imprint: Academic Press
  • eBook ISBN: 9780080922195

About the Editors

William Coleman

William B. Coleman, PhD is the Executive Officer for the American Society for Investigative Pathology (Rockville, MD). Prior to taking this position with the American Society for Investigative Pathology, Dr. Coleman spent 28 years at the University of North Carolina School of Medicine (Chapel Hill, NC), first as a postdoctoral fellow (1990-1995) and then as a faculty member (1995-2018) in the Department of Pathology and Laboratory Medicine. During his time at the UNC School of Medicine, Dr. Coleman served as Director of Graduate Studies for the Molecular and Cellular Pathology Ph.D. Program (2006-2012; now the Pathobiology and Translational Medicine Ph.D. Program), was a co-founder of the UNC Program in Translational Medicine and served as its Co-Director (2006-2015) and then its Director (2015-2018), was affiliated with the Curriculum in Toxicology, the Cancer Biology Training Program, and was a member of the UNC Lineberger Comprehensive Cancer Center. Dr. Coleman was active 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 the UNC School of Medicine. Prior to becoming an employee, Dr. Coleman was active in the leadership of the American Society for Investigative Pathology, serving in various roles including President (2015-2016). Dr. Coleman was honored with the ASIP Outstanding Investigator Award in 2013 from the American Society for Investigative Pathology. He is also a long-time member of the American Association for Cancer Research. He serves as Senior Associate Editor for The American Journal of Pathology, and is an Associate Editor for 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 99 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 was 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 140 original research articles, reviews, and book chapters. In addition, Dr. Coleman has co-edited or co-authored ten books on topics related to molecular pathology, molecular diagnostics, and the molecular pathogenesis of human cancer.

Affiliations and Expertise

Executive Officer, American Society for Investigative Pathology, Rockville, MD, USA

Gregory Tsongalis

Gregory J. Tsongalis, PhD, HCLD, CC, FNACB., is the Vice Chair for Research and the Director of the Laboratory for Clinical Genomics and Advanced Technology (CGAT) in the Department of Pathology and Laboratory Medicine at the Dartmouth-Hitchcock Medical Center and Norris Cotton Cancer Center (NCCC) in Lebanon, NH. He is a Professor of Pathology and Laboratory Medicine at the Audrey and Theodor Geisel School of Medicine at Dartmouth in Hanover, NH and 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 and Diagnostic Genetic Sciences 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 230 peer reviewed manuscripts, and has been an invited speaker at both national and international meetings. He has served on numerous committees of the American Association for Clinical Chemistry, the American Society for Investigative Pathology, the Federation for American Societies for Experimental Biology, and the Association for Molecular Pathology (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 Bioanalysts, 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. In 2016, Dr. Tsongalis received the Norris Cotton Cancer Center Award for Excellence, in 2017 the Association for Molecular Pathology (AMP) Jeffrey A. Kant Leadership Award, and in 2019 the American Society for Investigative Pathology Robbins Distinguished Educator Award. He also serves on numerous corporate scientific advisory boards.

Affiliations and Expertise

Professor, Vice Chair for Research, and Director of the Laboratory for Clinical Genomics and Advanced Technologies, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Health System and the Audrey and Theodor Geisel School of Medicine, Lebanon, NH, USA

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  • Medical Sun Feb 21 2021

    Good molecular pathology