This authoritative textbook embodies the current standard in molecular testing for practicing pathologists, and residents and fellows in training. The text is organized into eight sections: genetics, inherited cancers, infectious disease, neoplastic hematopathology, solid tumors, HLA typing, identity testing, and laboratory management. Discussion of each diagnostic test includes its clinical significance, available assays, quality control and lab issues, interpretation, and reasons for testing. Coverage extends to HIV, hepatitis, developmental disorders, bioterrorism, warfare organisms, lymphomas, breast cancer and melanoma, forensics, parentage, and much more. Includes 189 illustrations, 45 in full-color. This textbook is a classic in the making and a must-have reference.

This entirely case-based book covers a broad cross-section of the practical issues frequently encountered in the day-to-day activities of a molecular genetic pathologist. The book is divided into four sections on the principal areas addressed in molecular genetic pathology (MGP): inherited diseases, hematopathology, solid tumors, and infectious diseases. The topics covered by the cases in each section include test selection, qualitative and quantitative laboratory techniques, test interpretation, prognostic and therapeutic considerations, ethical considerations, technical troubleshooting, and result reporting. This book will be ideal for trainees in MGP and clinical molecular genetics who require a practice-based preparation for board examinations. It will also be very useful for residents and fellows in medical specialties to which MGP is pertinent, and for practicing pathologists who want to learn more about the current practice of molecular diagnostics.

Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.

As the molecular basis of human disease becomes better characterized, and the implications for understanding the molecular basis of disease becomes realized through improved diagnostics and treatment, Molecular Pathology, Second Edition stands out as the most comprehensive textbook where molecular mechanisms represent the focus. It is uniquely concerned with the molecular basis of major human diseases and disease processes, presented in the context of traditional pathology, with implications for translational molecular medicine. The Second Edition of Molecular Pathology has been thoroughly updated to reflect seven years of exponential changes in the fields of genetics, molecular, and cell biology which molecular pathology translates in the practice of molecular medicine. The textbook is intended to serve as a multi-use textbook that would be appropriate as a classroom teaching tool for biomedical graduate students, medical students, allied health students, and others (such as advanced undergraduates). Further, this textbook will be valuable for pathology residents and other postdoctoral fellows that desire to advance their understanding of molecular mechanisms of disease beyond what they learned in medical/graduate school. In addition, this textbook is useful as a reference book for practicing basic scientists and physician scientists that perform disease-related basic science and translational research, who require a ready information resource on the molecular basis of various human diseases and disease states. - Explores the principles and practice of molecular pathology: molecular pathogenesis, molecular mechanisms of disease, and how the molecular pathogenesis of disease parallels the evolution of the disease - Explains the practice of "molecular medicine and the translational aspects of molecular pathology - Teaches from the perspective of "integrative systems biology - Enhanced digital version included with purchase

Essential Concepts in Molecular Pathology, Second Edition, offers an introduction to molecular genetics and the "molecular" aspects of human disease. The book illustrates how pathologists harness their understanding of these entities to develop new diagnostics and treatments for various human diseases. This new edition offers pathology, genetics residents, and molecular pathology fellows an advanced understanding of the molecular mechanisms of disease that goes beyond what they learned in medical and graduate school. By bridging molecular concepts of pathogenesis to the clinical expression of disease in cell, tissue and organ, this fully updated, introductory reference provides the background necessary for an understanding of today's advances in pathology and medicine. - Explains the practice of "molecular medicine" and the translational aspects of molecular pathology, including molecular diagnostics, molecular assessment and personalized medicine - Orients non-pathologists on what pathologists look for and how they interpret their observational findings based on histopathology - Provides the reader with what is missing from most targeted introductions to pathology—the cell biology behind pathophysiology

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second Edition assembles a group of experts to discuss the molecular basis and mechanisms of major human diseases and disease processes and how the molecular features of disease can be harnessed to develop practical molecular tests for disease detection, diagnosis and prognosis. The book explains how molecular tests are utilized in the treatment of patients in personalized medicine, highlights new technologies and approaches of applied molecular pathology, and discusses how this discovery-based research yields new and useful biomarkers and tests. As it is essential to stay up-to-date on new molecular diagnostics in this changing field, this book covers critically important areas in the practice of personalized medicine and reflects our understanding of the pathology, pathogenesis and pathophysiology of human disease. - Includes new material on mass spectrometry for infectious diseases, microbiome, homology-directed repair for PARPi, whole genome sequencing for constitutional testing, and much more - Provides insights on the value of the molecular test in comparison to traditional methods, which include speed, precision, sensitivity and clinical impacts for the patient - 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 the prognostication of disease

Molecular Pathology and the Dynamics of Disease bridges the basic science of, and primary clinical literature on, human disease. Topics covered include several major disease areas, such as inflammation and host response, vascular disease, obesity, weight regulation and appetite, cancer biology, drug development, and gene- and cell-based therapeutics that are all presented in a way that emphasizes the interplay between clinical care and investigation. As new technologies and techniques are constantly changing and laboratory scientists plays a critical role in validating data used by clinicians in diagnosing patients, this book provides a timely guide that includes a clinical, research and theory perspective. - Assimilates theoretical knowledge with practical lab work - Provides a needed clinical perspective, along with research and theory - Highlights the impact of basic science on the practice of medicine

Diagnostic Pathology and Molecular Genetics of the Thyroid, Second Edition, offers a comprehensive overview of the diagnostic surgical pathology, cytopathology, immunohistochemistry and molecular genetics of the thyroid diseases, including neoplastic and non-neoplastic conditions. The book provides a detailed description of the surgical pathology of thyroid diseases side by side with major advances in immunohistochemistry and molecular genetics that can be used in evaluating thyroid tumors and non-neoplastic diseases.

This authoritative textbook offers in-depth coverage of all aspects of molecular pathology practice and embodies the current standard in molecular testing. Since the successful first edition, new sections have been added on pharmacogenetics and genomics, while other sections have been revised and updated to reflect the rapid advances in the field. The result is a superb reference that encompasses molecular biology basics, genetics, inherited cancers, solid tumors, neoplastic hematopathology, infectious diseases, identity testing, HLA typing, laboratory management, genomics and proteomics. Throughout the text, emphasis is placed on the molecular variations being detected, the clinical usefulness of the tests and important clinical and laboratory issues. The second edition of Molecular Pathology in Clinical Practice will be an invaluable source of information for all practicing molecular pathologists and will also be of utility for other pathologists, clinical colleagues and trainees.

Principles and Applications of Molecular Diagnostics serves as a comprehensive guide for clinical laboratory professionals applying molecular technology to clinical diagnosis. The first half of the book covers principles and analytical concepts in molecular diagnostics such as genomes and variants, nucleic acids isolation and amplification methods, and measurement techniques, circulating tumor cells, and plasma DNA; the second half presents clinical applications of molecular diagnostics in genetic disease, infectious disease, hematopoietic malignancies, solid tumors, prenatal diagnosis, pharmacogenetics, and identity testing. A thorough yet succinct guide to using molecular testing technology, Principles and Applications of Molecular Diagnostics is an essential resource for laboratory professionals, biologists, chemists, pharmaceutical and biotech researchers, and manufacturers of molecular diagnostics kits and instruments. - Explains the principles and tools of molecular biology - Describes standard and state-of-the-art molecular techniques for obtaining qualitative and quantitative results - Provides a detailed description of current molecular applications used to solve diagnostics tasks