Advances In Molecular Pathology 2024

Advances in Molecular Pathology reviews the year's most important findings and updates within the field in order to provide practitioners with the current clinical information they need to improve patient outcomes. A distinguished editorial board identifies key areas of major progress and controversy and invites preeminent specialists to contribute original articles devoted to these topics. These insightful overviews in molecular pathology inform and enhance clinical practice by bringing concepts to a clinical level and exploring their everyday impact on patient care. Contains 24 articles on such topics as chronic myelomonocytic leukemia; antimicrobial resistance marker detection and clinical interpretation/limitations; DPYD and the congenital DPD deficiency; FHIR genomic operations; AI in genomics; clinical value of molecular LDTs; and more. Provides in-depth, clinical reviews in molecular pathology, providing actionable insights for clinical practice. Presents the latest information in the field under the leadership of an experienced editorial team. Authors synthesize and distill the latest research and practice guidelines to create these timely topic-based reviews.

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

In this issue of Clinics in Laboratory Medicine, guest editor Lauren L. Ritterhouse brings her considerable expertise to the topic of molecular pathology. Experts in the field cover topics such as molecular pathology of lung cancer, gliomas, prostate cancer, and more. Contains 14 relevant topics including clinical utilization and designing a test menu; molecular alteration in pediatric solid tumors; pan-cancer molecular biomarkers; and more. Provides in-depth clinical reviews on molecular pathology, offering actionable insights for practice. Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create clinically significant, topic-based reviews.

The present work corresponds to a compilation of independent contributions in the fields of endocrinology, immunity, cancer, neurobiology, and myology. Revision of current advances as well as novel findings in the form of original articles are presented in a balanced fashion. The book has been divided into three sections in line with the main subject: Molecular pathology of immune, inflammatory, and hemostatic disorders; Molecular pathology of endocrine and muscular disorders; and Molecular pathology of cancer: determinants and potential therapies. In the first section, contributing authors take the reader through the molecular pathology of immune responses, inflammation, and hemostasis, by collating an update on systemic autoimmune diseases, the therapeutic potential of statins in hemostasis, the effects of adrenergic stimulation on coagulation, the emerging field of physical burnout due to the mobility restrictions in response to the 2020 SARS-CoV-2 pandemic imposed worldwide, and the success of community-oriented muscular kinesic rehabilitation. The second section presents engaging results from a survey of iodine intake through the diet of pregnant females, an appraisal of the neuroprotective effect of dexmedetomidine, novel evidence on muscle physiopathology, describing the upregulation of CCL5/RANTES during cholestatic liver disease, the fibrotic response emerging in response to cholic and deoxycholic acids, and the altering effects of bile acids in autophagy and mitogenesis. In the third section, a comprehensive revision of cancer literature is offered with an emphasis on melanoma, myeloid-derived suppressor cells, microRNA-based diagnostic approaches, and new avenues for cancer immunotherapy. Altogether, these individual contributions offer a comprehensive and up-to-date outlook of the current state in the field of molecular pathology. Chapter 14 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

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.

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.

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.