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Pathobiology : Journal of... 2017Interrogation of tissue informs on patient management through delivery of a diagnosis together with associated clinically relevant data. The diagnostic pathologist will... (Review)
Review
Interrogation of tissue informs on patient management through delivery of a diagnosis together with associated clinically relevant data. The diagnostic pathologist will usually evaluate the morphological appearances of a tissue sample and, occasionally, the pattern of expression of a limited number of biomarkers. Recent developments in sequencing technology mean that DNA and RNA from tissue samples can now be interrogated in great detail. These new technologies, collectively known as next-generation sequencing (NGS), generate huge amounts of data which can be used to support patient management. In order to maximize the utility of tissue interrogation, the molecular data need to be interpreted and integrated with the morphological data. However, in order to interpret the molecular data, the pathologist must understand the utility and the limitations of NGS data. In this review, the principles behind NGS technologies are described. In addition, the caveats in the interpretation of the data are discussed, and a scheme is presented to "classify" the types of data which are generated. Finally, a glossary of new terminology is included to help pathologists become familiar with the lexicon of NGS-derived molecular data.
Topics: Gene Library; High-Throughput Nucleotide Sequencing; Histological Techniques; Humans; Pathology, Molecular; Sequence Analysis, DNA; Statistics as Topic
PubMed: 29131018
DOI: 10.1159/000480089 -
Annual Review of Biomedical Engineering Jul 2016Pathology is essential for research in disease and development, as well as for clinical decision making. For more than 100 years, pathology practice has involved... (Review)
Review
Pathology is essential for research in disease and development, as well as for clinical decision making. For more than 100 years, pathology practice has involved analyzing images of stained, thin tissue sections by a trained human using an optical microscope. Technological advances are now driving major changes in this paradigm toward digital pathology (DP). The digital transformation of pathology goes beyond recording, archiving, and retrieving images, providing new computational tools to inform better decision making for precision medicine. First, we discuss some emerging innovations in both computational image analytics and imaging instrumentation in DP. Second, we discuss molecular contrast in pathology. Molecular DP has traditionally been an extension of pathology with molecularly specific dyes. Label-free, spectroscopic images are rapidly emerging as another important information source, and we describe the benefits and potential of this evolution. Third, we describe multimodal DP, which is enabled by computational algorithms and combines the best characteristics of structural and molecular pathology. Finally, we provide examples of application areas in telepathology, education, and precision medicine. We conclude by discussing challenges and emerging opportunities in this area.
Topics: Algorithms; Humans; Image Processing, Computer-Assisted; Medical Informatics; Molecular Imaging; Pathology, Molecular; Pattern Recognition, Automated; Telepathology
PubMed: 27420575
DOI: 10.1146/annurev-bioeng-112415-114722 -
Pathology Jan 2021While localised prostate cancer can be cured by local treatment, 'high-risk' prostate cancer often progresses to castration resistant disease and remains incurable with... (Review)
Review
While localised prostate cancer can be cured by local treatment, 'high-risk' prostate cancer often progresses to castration resistant disease and remains incurable with a dismal prognosis. In recent years, technical advances and development of novel methodologies have largely contributed to a better understanding of underlying molecular mechanisms that promote tumour growth and progression. Consecutively, novel therapeutic strategies for treatment of prostate cancer have emerged during the last decade, calling for the identification of predictive biomarkers. The concept of personalised medicine is to tailor treatment according to the specific tumour profile of an individual patient. Moreover, acquired molecular changes during tumour evolution and in response to therapy selection pressure require adapted predictive marker testing at different time points during the disease. In this setting, the pathologist plays a critical role in patient management and treatment selection. In this review, we provide a comprehensive overview of the current knowledge of molecular aspects of prostate cancer and their potential utility in the context of different therapeutic approaches. Furthermore, we discuss methods for molecular marker testing in routine clinical practice, with a focus on castration resistant prostate cancer.
Topics: Biomarkers; Humans; Male; Pathology, Molecular; Prostatic Neoplasms
PubMed: 33234230
DOI: 10.1016/j.pathol.2020.10.003 -
Molecular Oncology Oct 2014Molecular Pathology (MP) is at the heart of modern diagnostics and translational research, but the controversy on how MP is best developed has not abated. The lack of a... (Review)
Review
Molecular Pathology (MP) is at the heart of modern diagnostics and translational research, but the controversy on how MP is best developed has not abated. The lack of a proper model or trained pathologists to support the diagnostic and research missions makes MP a rare commodity overall. Here we analyse the scientific and technology areas, in research and diagnostics, which are encompassed by MP of solid tumours; we highlight the broad overlap of technologies and analytical capabilities in tissue research and diagnostics; and we describe an integrated model that rationalizes technical know-how and pathology talent for both. The model is based on a single, accredited laboratory providing a single standard of high-quality for biomarker discovery, biomarker validation and molecular diagnostics.
Topics: Animals; Biomarkers, Tumor; Computational Biology; Humans; Neoplasms; Pathology, Molecular; Tissue Banks; Translational Research, Biomedical
PubMed: 25160635
DOI: 10.1016/j.molonc.2014.07.021 -
Clinics in Laboratory Medicine Jun 2018Molecular biological techniques have evolved expeditiously and in turn have been applied to the detection of infectious disease. Maturation of these technologies and... (Review)
Review
Molecular biological techniques have evolved expeditiously and in turn have been applied to the detection of infectious disease. Maturation of these technologies and their coupling with related technological advancement in fluorescence, electronics, digitization, nanodynamics, and sensors among others have afforded clinical medicine additional tools toward expedient identification of infectious organisms at concentrations and sensitivities previously unattainable. These advancements have been adapted in select settings toward addressing clinical demands for more timely and effective patient management.
Topics: High-Throughput Nucleotide Sequencing; Humans; Magnetic Resonance Spectroscopy; Microbiological Techniques; Molecular Diagnostic Techniques; Pathology, Molecular; Polymerase Chain Reaction; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
PubMed: 29776630
DOI: 10.1016/j.cll.2018.02.004 -
The Journal of Pathology Jan 2015Varicelloviruses in primates comprise the prototypic human varicella-zoster virus (VZV) and its non-human primate homologue, simian varicella virus (SVV). Both viruses... (Review)
Review
Varicelloviruses in primates comprise the prototypic human varicella-zoster virus (VZV) and its non-human primate homologue, simian varicella virus (SVV). Both viruses cause varicella as a primary infection, establish latency in ganglionic neurons and reactivate later in life to cause herpes zoster in their respective hosts. VZV is endemic worldwide and, although varicella is usually a benign disease in childhood, VZV reactivation is a significant cause of neurological disease in the elderly and in immunocompromised individuals. The pathogenesis of VZV infection remains ill-defined, mostly due to the species restriction of VZV that impedes studies in experimental animal models. SVV infection of non-human primates parallels virological, clinical, pathological and immunological features of human VZV infection, thereby providing an excellent model to study the pathogenesis of varicella and herpes zoster in its natural host. In this review, we discuss recent studies that provided novel insight in both the virus and host factors involved in the three elementary stages of Varicellovirus infection in primates: primary infection, latency and reactivation.
Topics: Animals; Biopsy; Disease Models, Animal; Genotype; Herpesviridae Infections; Host-Pathogen Interactions; Humans; Pathology, Molecular; Predictive Value of Tests; Primates; Varicellovirus; Virology; Virulence; Virus Activation; Virus Latency
PubMed: 25255989
DOI: 10.1002/path.4451 -
Virchows Archiv : An International... Feb 2024Classification of head and neck tumors has evolved in recent decades including a widespread application of molecular testing in tumors of the salivary glands, sinonasal... (Review)
Review
Classification of head and neck tumors has evolved in recent decades including a widespread application of molecular testing in tumors of the salivary glands, sinonasal tract, oropharynx, nasopharynx, and soft tissue. Availability of new molecular techniques allowed for the definition of multiple novel tumor types unique to head and neck sites. Moreover, the expanding spectrum of immunohistochemical markers facilitates a rapid identification of diagnostic molecular abnormalities. As such, it is currently possible for head and neck pathologists to benefit from a molecularly defined classifications, while making diagnoses that are still based largely on histopathology and immunohistochemistry. This review highlights some principal molecular alterations in head and neck neoplasms presently available to assist pathologists in the practice of diagnosis, prognostication and prediction of response to treatment.
Topics: Humans; Pathology, Molecular; Head and Neck Neoplasms; Salivary Glands; Immunohistochemistry; Pathologists
PubMed: 38217715
DOI: 10.1007/s00428-023-03731-2 -
Military Medical Research Mar 2022Traditional diagnostic strategies for infectious disease detection require benchtop instruments that are inappropriate for point-of-care testing (POCT). Emerging... (Review)
Review
Traditional diagnostic strategies for infectious disease detection require benchtop instruments that are inappropriate for point-of-care testing (POCT). Emerging microfluidics, a highly miniaturized, automatic, and integrated technology, are a potential substitute for traditional methods in performing rapid, low-cost, accurate, and on-site diagnoses. Molecular diagnostics are widely used in microfluidic devices as the most effective approaches for pathogen detection. This review summarizes the latest advances in microfluidics-based molecular diagnostics for infectious diseases from academic perspectives and industrial outlooks. First, we introduce the typical on-chip nucleic acid processes, including sample preprocessing, amplification, and signal read-out. Then, four categories of microfluidic platforms are compared with respect to features, merits, and demerits. We further discuss application of the digital assay in absolute nucleic acid quantification. Both the classic and recent microfluidics-based commercial molecular diagnostic devices are summarized as proof of the current market status. Finally, we propose future directions for microfluidics-based infectious disease diagnosis.
Topics: Communicable Diseases; Humans; Lab-On-A-Chip Devices; Microfluidic Analytical Techniques; Microfluidics; Pathology, Molecular
PubMed: 35300739
DOI: 10.1186/s40779-022-00374-3 -
Acta Medica Academica Apr 2021This review provides a brief overview of the state-of-the-art molecular pathology approaches emphasizing the increasingly important pathology role in clinical precision... (Review)
Review
This review provides a brief overview of the state-of-the-art molecular pathology approaches emphasizing the increasingly important pathology role in clinical precision cancer medicine. Recent advances in molecular biology and genetics have tremendously affected the practice of anatomic pathology, gradually transforming it from a morphology-based into a molecularbased discipline. Molecular diagnostics has a long tradition in pathology, especially in clinical pathology. The improvement of methodology for genomic testing in recent years has made it one of the cornerstones of precision cancer medicine. The decisions related to cancer treatments are no longer solely based on the histopathological diagnosis. Various genomic analyses of human cancers are being incorporated into diagnostic and decision-making algorithms. CONCLUSION: The pathologists continue to play an essential role in developing and implementing molecular and genomic tests in practice and communicate the results and their relevance with clinicians. Such activities are of utmost importance for successfully translating scientific advancements into a benefit to patients ("next-generation pathologists").
Topics: Genomics; Humans; Neoplasms; Pathology, Molecular; Precision Medicine
PubMed: 34075763
DOI: 10.5644/ama2006-124.325 -
Ageing Research Reviews May 2017The first clinical trial aimed at targeting fundamental processes of aging will soon be launched (TAME: Targeting Aging with Metformin). In its wake is a robust pipeline... (Review)
Review
The first clinical trial aimed at targeting fundamental processes of aging will soon be launched (TAME: Targeting Aging with Metformin). In its wake is a robust pipeline of therapeutic interventions that have been demonstrated to extend lifespan or healthspan of preclinical models, including rapalogs, antioxidants, anti-inflammatory agents, and senolytics. This ensures that if the TAME trial is successful, numerous additional clinical trials are apt to follow. But a significant impediment to these trials remains the question of what endpoints should be measured? The design of the TAME trial very cleverly skirts around this based on the fact that there are decades of data on metformin in humans, providing unequaled clarity of what endpoints are most likely to yield a positive outcome. But for a new chemical entity, knowing what endpoints to measure remains a formidable challenge. For economy's sake, and to achieve results in a reasonable time frame, surrogate markers of lifespan and healthy aging are desperately needed. This review provides a comprehensive analysis of molecular endpoints that are currently being used as indices of age-related phenomena (e.g., morbidity, frailty, mortality) and proposes an approach for validating and prioritizing these endpoints.
Topics: Aging; Biomarkers; Humans; Life Expectancy; Longevity; Pathology, Molecular
PubMed: 27721062
DOI: 10.1016/j.arr.2016.09.012