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 is based on the emergence of new techniques that greatly enhance the diagnostic accuracy when facing with challenging differential diagnoses. In addition, new molecular techniques are entering the clinical arena for their value in predicting therapy response and tumor prognosis. This book provides a guide for the practicing pathologist and for both pathology residents and fellows during the daily sign-out of challenging cases. The book is organized by anatomical systems and provides a detailed description of molecular tests that may help in the diagnosis. Furthermore, a description of the current molecular tests required to identify patients for treatment is offered. The application of molecular pathology techniques to the clinical practice has already shown its usefulness and the number of such tests is growing exponentially as more molecular targets are discovered. Molecular Pathology and Diagnostics of Cancer will give practicing and training pathologists an up-to date resource to guide the correct management of pathology cases requiring molecular testing.

We are currently experiencing a fundamental shift in the way in which we approach the characterization of cancer. Never before has the make up of cancer tissues and individual cells been so exhaustively researched and char- terized. We are now capable of producing molecular “fingerprints” that ch- acterize the expression of all known and unknown genes within tumors and their surrounding tissues. More than 30,000 different genes may be measured in each patient’s tumor in a single experiment. Simultaneously, novel therapies that exploit the molecular roadmap have been developed and are now being offered to patients. These novel agents, such as Glivec, Herceptin, Iressa, and others, specifically target individual genes within tumors and can produce d- matic responses in some patients. These drugs are only the forerunners of a coming tidal wave of novel therapeutics that individually target specific m- ecules within cancer cells—more than 300 such agents are currently in phase I or II clinical trials. This is an exciting time for cancer specialists and patients alike. However, if we have learned anything from the past 50 or more years of research into cancer, it is that Lord Beaverbrook, in founding the British national health service in the 1950s, was frighteningly prescient when he defined the primary goal of health care to be “Diagnosis, Diagnosis, Diag- sis. ” Now, more than ever, it is essential that appropriate diagnostic methods and approaches are applied to the selection of patients for treatment.

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.

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.

Molecular Testing in Cancer provides a state of the art review of clinically relevant molecular pathology in cancer. The book provides a brief, easy to read review of commonly employed diagnostic molecular techniques including recently developed "next generation" analytic tools, and offers a system-based run-through of the utility of molecular testing in individual cancer types, as well as reviewing current markers in cancer diagnosis, prognosis, and management. The volume also provides a prospective for the future which includes recently characterized and emerging biomarkers. Written by experts in the field, Molecular Testing in Cancer serves as a useful and comprehensive resource for pathologists, hematologists, laboratory technicians and molecular scientists.

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 volume in the highly regarded Diagnostic Pathology series provides a clearer understanding of molecular pathology as it relates to the transformation and pathogenesis of cancer. Diagnostic Pathology: Molecular Oncology is the first reference to apply a practical and clinical approach to examining how molecular mutations affect common medical diseases. Additionally, it identifies the relevant and appropriate molecular tests to perform for a complete work-up in the era of molecular-targeted therapies. Easy to use and packed with outstanding illustrations, this is an essential resource for all pathologists or clinicians who need to keep up with the ever-evolving field of molecular medicine. Up-to-date information on a variety of topics Next-generation sequencing for determining gene mutations Diagnostic use of soft tissue mutations Use of solid tissue mutations such as EGFR, BRAF, and KRAS for diagnosis and treatment of different carcinomas and melanoma Interpreting newly found mutations in hematopathology such as MYD88 mutations Understanding bioinformatics Guidance on selecting the right test(s) at the right time for the right patient Comparisons of molecular testing methods (i.e., FISH testing vs. cytogenetics) More than 2,000 images including H&E stains, immunostains, and FISH images

Over the past two decades there has been an explosion in knowledge about the molecular pathology of human diseases which accelerated with the sequencing of the human genome in 2003. Molecular diagnostics and molecular targeted therapy have contributed to the current concept of personalized patient care that is now routine in many medical centers. As a result, general and subspecialty pathologists, clinical practitioners of all types and radiologists must now have an understanding of the basic concepts of molecular pathology and their role in new diagnostic and therapeutic applications to patient care. The Molecular Pathology Library series was created to bridge the gap between traditional basic science textbooks in molecular biology and traditional medical textbooks for organ-specific diseases. Basic Concepts of Molecular Pathology is designed as a stand-alone book to provide the pathologist, clinician or radiologist with a concise review of the essential terminology, concepts and tools of molecular biology that are applied to the understanding, diagnosis and treatment of human diseases in the age of personalized medicine. Those medical practitioners, residents, fellows and students who need to refer to the terminology and concepts of molecular pathology in their patient care will find the Basic Concepts of Molecular Pathology to be a succinct, portable, user-friendly aid in their practice and studies. The service-based physician will find this handy reference to be valuable at the laboratory benchside, at the patient bedside, at multidisciplinary patient care conferences or as a review for examinations.

Covering all aspects of molecular pathology as it relates to the transformation and pathogenesis of cancer, this award-winning volume in the Diagnostic Pathology series is an expert resource for pathologists at all levels of experience and training, both as a quick reference and as an efficient review to improve knowledge and skills. This easily accessible, point-of-care reference features templated, bulleted content that is generously illustrated with charts, graphs, tables, and color photomicrographs of histology with special stains. It offers a practical, clinical approach to examining how molecular mutations affect common medical diseases and identifies the relevant and appropriate molecular tests to perform for a complete work-up in the era of molecular-targeted therapies. - Provides updated information on molecular mutations in different tumors, including solid tumors and hematopoietic neoplasms, and new targeted therapies geared toward these molecular alterations - Discusses now widely used immunotherapy treatments, including how immunotherapy has revolutionized the treatment of many neoplasms such as breast and lung carcinomas and lymphoma - Features more than 2,000 annotated images throughout, including H&E stains, immunostains, and FISH images - Covers timely topics such as: - Recent advances in cancer immunotherapy, specifically in the molecular basis of immunotherapy - Newly discovered targeted therapies, including multiple lung carcinoma therapies now considered for patients based on existing mutations to specific genes (KRAS, ALK, BRAF, and ROS) - The need for integration of myeloid and lymphoid gene panels due to increased knowledge from next generation sequencing studies of new mutations and the resulting newly developed molecular targets - Increased usage of next generation sequencing techniques - Changes to hematopoietic tumor details based on revised WHO guidelines - Recipient of a 2016 BMA Award: Highly Commended, Pathology (previous edition)