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

This book aims to bring together a broad variety of examples of the role of pharmacogenomics in current drug development, uncovering dynamic concentration-dependent drug responses on biological systems to understand pharmacodynamics responses in human cancer where genetic lesions serve as tumor markers and provide a basis for cancer diagnosis. The book describes methods and protocols applied in molecular diagnostics. It offers pathologists and researchers providing molecular diagnostic services an array of the most recent and readily accessible reference to compare methods and techniques. Highlights include the molecular diagnosis of genetic aberrations by quantitative polymerase reaction (qPCR), sequence-specific oligonucleotide arrays, next-generation sequencing (NGS), CGH arrays-and methodologies directed at the detection of epigenetic events, high-throughput nucleic acid and protein arrays, direct sequencing and FISH-based methodologies, currently used in the diagnosis of solid tumors. The book also includes an innovative line of treatment in relation to the molecular prognosis, diagnosis and pharmacogenomics in the actual practice of clinical findings at molecular levels. The book covers the applications of numerous genetic testing methodologies; in approximately the chronological order of discovery and high-throughput diagnosis using advanced genomic approaches to identify such genes, in the search for novel drug targets and/or key determinants of drug reactions. It also promotes a wider understanding of molecular diagnostics among physicians, medical students, and scientists in academics, industry and corporate world.

This book is a review and high-yield reference on the clinical molecular diagnostics of malignant neoplasms. It aims to address the practical questions frequently encountered in the molecular oncology practice, as well as key points and pitfalls in the clinical interpretation of molecular tests in guiding precision cancer management. The text uses a Q&A format and case presentations, with emphasis on understanding the molecular test methods, diagnosis, classification, risk assessment and clinical correlation. Starting with an update on the molecular biology of cancer, the book focuses on the topics related to molecular diagnostics and genetics-based precision oncology. Separate chapters are dedicated to discussion of the bioinformatics for the analysis of genetic/genomic data generated from molecular assays, and quality control (QC)/quality assurance (QA) programs in the clinical laboratories; both are critical in producing high quality results for clinical care of cancer patients. These are followed by organ system-based reviews and discussions on the molecular genetic abnormalities and related tests covering diverse types of common to rare malignant neoplasms. This book also provides up-to-date knowledge related to malignant neoplasms, discusses the established as well as evolving requirements for pathologic diagnosis of these malignancies. It also discusses the cost effective utilization of molecular tests in clinical oncology. Written by experts in the field, Practical Oncologic Molecular Pathology serves as a valuable reference for practicing pathologists, fellows, residents and other health care professionals.

It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.

This unique book provides a thorough overview of developing molecular cancer diagnostic assays, which are the prerequisites for optimal solutions within personalized cancer medicine. The book takes the reader through definitions of the pharmacodiagnostic concept, historical perspectives of the early steps into molecular cancer diagnostics linked to therapy, the basis of different diagnostic molecular techniques, ongoing research, drug-diagnostic co-development, assay validation, clinical trial methodology, regulatory issues around pharmacodiagnostics and future aspects within personalized cancer medicine.

This book reviews the current applications of molecular tools in cytopathology and provides a concise handbook for those who provide care in this era of personalized medicine. Specifically, the text provides a comprehensive and concise review of the emerging molecular tests available clinically in different subspecialities of diagnostic pathology. It reviews the current data of molecular testing already applied in cytopathology, discusses some of the biomarkers with potential utility in cytopathology in the near future and reviews the technical challenges in applying and validating molecular tools in liquid-based cytologic materials. Molecular Cytopathology will serve as a valuable resource for cytopathologists, cytotechnologists, pathology trainees, and clinicians with an interest in molecular applications in cytopathology.

The complex landscape of breast cancer requires distinct strategies for the management of various molecular subtypes of this disease. Rapid advances in the field of molecular biology have been bewildering for those involved in its study and management. “Molecular Pathology of Breast Cancer” aims to close this knowledge gap by discussing comprehensively the evolution, biological basis and clinical applications with a focus on the “what, when, and how” of the most significant molecular markers known to date. These markers are evaluated in the context of genomic, transcriptomic and proteomic profiles, which is integral to the practice of precision medicine. The application of next generation sequencing (NGS) has provided new insights in the regulation of genomic and transcriptomic structure and function. Alterations in DNA such as mutations and single nucleotide polymorphisms (SNPs) have been correlated with outcomes and provide for novel therapeutic approaches. These NGS analyses have also revealed the extensive contributions of epigenetic mechanisms such as histone modifications, non-coding RNA and alternative splicing. All of these changes together contribute to alterations in proteome. Newer assays that allow greater stability and analytical consistency are emerging. These alterations in tumor profiles can be also now detected by imaging techniques. The heterogeneity of both tumor and tumor microenvironment, an inevitable reality, is discussed in detail with particular focus on cancer stem cells and immune signaling. A chapter is dedicated to the emerging technology of “liquid biopsy”, which opens a novel approach for “continuous” monitoring of cancer that might be superior to conventional diagnostics, “Molecular Pathology of Breast Cancer” provides a quick and easy, not to mention essential, tour for clinicians, pathologists and scientists who are seeking to understand the integration of molecular biology into the diagnosis, prognosis and management of breast cancer.

As with other books in the Molecular Pathology Library Series, Molecular Pathology of Lung Cancer bridges the gap between the molecular specialist and the clinical practitioner, including the surgical pathologist who now has a key role in decisions regarding molecular targeted therapy for lung cancer. Molecular Pathology of Lung Cancer provides the latest information and current insights into the molecular basis for lung cancer, including precursor and preinvasive lesions, molecular diagnosis, molecular targeted therapy, molecular prognosis, molecular radiology and related fields for lung cancer generally and for the specific cell types. As many fundamental concepts about lung cancer have undergone revision in only the past few years, this book will likely be the first to comprehensively cover the new molecular pathology of lung cancer. It provides a foundation in this field for pathologists, medical oncologists, radiation oncologists, thoracic surgeons, thoracic radiologists and their trainees, physician assistants, and nursing staff.

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

Bridging the gap between research and clinical application, Biosensors and Molecular Technologies for Cancer Diagnostics explores the use of biosensors as effective alternatives to the current standard methods in cancer diagnosis and detection. It describes the major aspects involved in detecting and diagnosing cancer as well as the basic elements