Molecular Pathology book cover

Molecular Pathology

The Molecular Basis of Human Disease

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.

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

Hardbound, 664 Pages

Published: February 2009

Imprint: Academic Press

ISBN: 978-0-12-374419-7


  • "The editors of Molecular Pathology have produced a comprehensive compendium of the state-of-the-art in molecular pathogenesis, an impressive accomplishment given the diverse cells and organ systems involved in human disease. An established cadre of experts has contributed to this first, well-designed edition. As a result, essential topics ranging from cell injury/death, the molecular basis of cardiovascular diseases and disorders of the nervous system, and modern molecular diagnostics are amply addressed. In a rapidly emerging discipline, it is challenging to capture the details that define the field. Molecular Pathology has accomplished this goal in an outstanding manner and will serve as an excellent resource for those already established in clinical care and biomedical research, for those who seek to maintain competency in molecular pathology, as well as for all students involved in interdisciplinary studies related to human disease or modern clinical investigations."

    --Linda M. McManus, PhD, Professor, University of Texas Health Science Center at San Antonio

    "The focus of Molecular Pathology is genetic and molecular but it has been written to enhance the work of an active pathologist, clearly describing the basics as well as providing ample sampling of the molecular complexities of disease. Gladly the editors did not assemble an exhaustive compendium of facts and details that would inevitably become obsolete in short order. Instead, the contributors concentrated on clarity of explanation supported by selected examples so that the reader may grasp the fundamentals better. In fact, this may be one medical textbook that can be read cover-to-cover without being lost in details. The figures are clear, helpful, and plentiful which is important when dealing with so many complex technologies and concepts. I highly recommend this book."

    --Edison T. Liu, M.D, Executive Director, Genome Institute of Singapore


  • 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






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