-
Journal Der Deutschen Dermatologischen... Mar 2022
Topics: Dermatology; Humans; Pathology, Molecular
PubMed: 35304963
DOI: 10.1111/ddg.14760 -
Clinics in Laboratory Medicine Dec 2022
Topics: Humans; Precision Medicine; Pathology, Molecular; Neoplasms
PubMed: 36368791
DOI: 10.1016/j.cll.2022.09.019 -
The Journal of Small Animal Practice Jul 2021Molecular pathology is a developing sub-microscopic discipline of pathology that studies the effects of molecular variations and mutations on disease processes. The... (Review)
Review
Molecular pathology is a developing sub-microscopic discipline of pathology that studies the effects of molecular variations and mutations on disease processes. The ultimate goal of molecular pathology in cancer is to predict risk, facilitate diagnosis and improve prognostication based on a complete understanding of the biological impact of specific molecular variations, mutations and dysregulations. This knowledge will provide the basis for customised cancer treatment, so-called precision medicine. Rapid developments in genomics have placed this field at the forefront of clinical molecular pathology and there are already a number of well-established genetic tests available for clinical use including PCR of antigen receptor rearrangement and KIT mutational analysis. Moving beyond tests assessing a single gene, there are significant research efforts utilising genomics to predict cancer risk, forecast aggressive behaviour and identify druggable mutations and therapeutic biomarkers. Researchers are also investigating the use of circulating cells and nucleic acid for clinically useful low morbidity genomic assessments. If we are to realise the full potential of molecular pathology and precision medicine there are a number of challenges to overcome. These include developing our understanding of the underlying biology (in particular intra-tumoural heterogeneity), methodological standardisation of assays, provision of adequate infrastructure and production of novel therapeutics backed by high-quality clinical data supporting the precision medicine approach. The era of molecular pathology holds the potential to revolutionise veterinary cancer care, but its impact on clinical practice will depend upon the extent to which the inherent challenges can be overcome.
Topics: Animals; Genomics; Mutation; Neoplasms; Pathology, Molecular; Precision Medicine
PubMed: 33974272
DOI: 10.1111/jsap.13330 -
Endocrine Pathology Mar 2021Well differentiated neuroendocrine tumors (NETs) arising in the gastrointestinal and pancreaticobiliary system are the most common neuroendocrine neoplasms. Studies of... (Review)
Review
Well differentiated neuroendocrine tumors (NETs) arising in the gastrointestinal and pancreaticobiliary system are the most common neuroendocrine neoplasms. Studies of the molecular basis of these lesions have identified genetic mutations that predispose to familial endocrine neoplasia syndromes and occur both as germline events and in sporadic tumors. The mutations often involve epigenetic regulators rather than the oncogenes and tumor suppressors that are affected in other malignancies. Somatic copy number alterations and miRNAs have also been implicated in the development and progression of some of these tumors. The molecular profiles differ by location, but many are shared by tumors in other sites, including those outside the gastroenteropancreatic system. The approach to therapy relies on both the neuroendocrine nature of these tumors and the identification of specific alterations that can serve as targets for precision oncologic approaches.
Topics: Gastrointestinal Neoplasms; Humans; Neuroendocrine Tumors; Oncogenes; Pancreatic Neoplasms; Pathology, Molecular; Stomach Neoplasms
PubMed: 33459926
DOI: 10.1007/s12022-021-09662-5 -
Virchows Archiv : An International... Feb 2024With the explosion in knowledge about the molecular landscape of lymphoid malignancies and the increasing availability of high throughput techniques, molecular... (Review)
Review
With the explosion in knowledge about the molecular landscape of lymphoid malignancies and the increasing availability of high throughput techniques, molecular diagnostics in hematopathology has moved from isolated marker studies to a more comprehensive approach, integrating results of multiple genes analyzed with a variety of techniques on the DNA and RNA level. Although diagnosis of lymphoma still relies on the careful integration of clinical, morphological, phenotypic, and, if necessary molecular features, and only few entities are defined strictly by genetic features, genetic profiling has contributed profoundly to our current understanding of lymphomas and shaped the two current lymphoma classifications, the International Consensus Classification and the fifth edition of the WHO classification of lymphoid malignancies. In this review, the current state of the art of molecular diagnostics in lymphoproliferations is summarized, including clonality analysis, mutational studies, and gene expression profiling, with a focus on practical applications for diagnosis and prognostication. With consideration for differences in accessibility of high throughput techniques and cost limitations, we tried to distinguish between diagnostically relevant and in part disease-defining molecular features and optional, more extensive genetic profiling, which is usually restricted to clinical studies, patients with relapsed or refractory disease or specific therapeutic decisions. Although molecular diagnostics in lymphomas currently is primarily done for diagnosis and subclassification, prognostic stratification and predictive markers will gain importance in the near future.
Topics: Humans; Pathology, Molecular; Prognosis; Lymphoma; Gene Expression Profiling; Mutation
PubMed: 37747559
DOI: 10.1007/s00428-023-03644-0 -
Seminars in Cancer Biology Jul 2021Breast cancer (BC) comprises a diverse spectrum of diseases featuring distinct presentation, morphological, biological, and clinical phenotypes. BC behaviour and... (Review)
Review
Breast cancer (BC) comprises a diverse spectrum of diseases featuring distinct presentation, morphological, biological, and clinical phenotypes. BC behaviour and response to therapy also vary widely. Current evidence indicates that traditional prognostic and predictive classification systems are insufficient to reflect the biological and clinical heterogeneity of BC. Advancements in high-throughput molecular techniques and bioinformatics have contributed to the improved understanding of BC biology, refinement of molecular taxonomies and the development of novel prognostic and predictive molecular assays. Molecular testing has also become increasingly important in the diagnosis and treatment of BC in the era of precision medicine. Despite the enormous amount of research work to develop and refine BC molecular prognostic and predictive assays, it is still in evolution and proper incorporation of these molecular tests into clinical practice to guide patient's management remains a challenge. With the increasing use of more sophisticated high throughput molecular techniques, large amounts of data will continue to emerge, which could potentially lead to identification of novel therapeutic targets and allow more precise classification systems that can accurately predict outcome and response to therapy. In this review, we provide an update on the molecular classification of BC and molecular prognostic assays. Companion diagnostics, contribution of massive parallel sequencing and the use of liquid biopsy are also highlighted.
Topics: Biomarkers, Tumor; Breast Neoplasms; Female; Gene Expression Profiling; Humans; Pathology, Molecular; Precision Medicine; Prognosis
PubMed: 32259641
DOI: 10.1016/j.semcancer.2020.03.014 -
Pathologie (Heidelberg, Germany) Dec 2023The situation regarding digital pathology in Austria is manageable compared to other countries. Active Austrian examples are the consortium EMPAIA, the private-public... (Review)
Review
The situation regarding digital pathology in Austria is manageable compared to other countries. Active Austrian examples are the consortium EMPAIA, the private-public partnership Bigpicture, the Austrian Society for Clinical Pathology and Molecular Pathology (OEGPath), the company TissueGnostics, and the Austrian Platform for Personalized Medicine (OEPPM).
Topics: Austria; Telepathology; Pathology, Clinical; Pathology, Molecular; Precision Medicine
PubMed: 37987811
DOI: 10.1007/s00292-023-01278-2 -
Ticks and Tick-borne Diseases Mar 2022Molecular biology has revolutionized all aspects of biological research including diagnostics, taxonomy, and systematics. Even so, the critique that molecular methods... (Review)
Review
Molecular biology has revolutionized all aspects of biological research including diagnostics, taxonomy, and systematics. Even so, the critique that molecular methods cannot truly confirm the presence of parasites, or identify new species remains prevalent and arguably relevant. The current review considers the ability of molecular diagnostic methods to detect parasites and the relevance of molecular sequences to identify species and attempt to answer the question of whether molecular data ever lie. It shows that well-validated molecular assays should be able to accurately confirm the presence of parasites in a host or vector species, while well-selected sequences should conclusively identify existing or new species. It addresses pitfalls in the use of molecular techniques and how these can be avoided. It also considers the self-correcting nature of science and the caveat that a scientist should use all tools at their disposal to uncover the mysteries of nature.
Topics: Animals; Parasites; Pathology, Molecular
PubMed: 35078135
DOI: 10.1016/j.ttbdis.2022.101907 -
International Journal of Molecular... Mar 2024Glioblastoma multiforme (GBM) is the most common and malignant type of primary brain tumor in adults. Despite important advances in understanding the molecular... (Review)
Review
Glioblastoma multiforme (GBM) is the most common and malignant type of primary brain tumor in adults. Despite important advances in understanding the molecular pathogenesis and biology of this tumor in the past decade, the prognosis for GBM patients remains poor. GBM is characterized by aggressive biological behavior and high degrees of inter-tumor and intra-tumor heterogeneity. Increased understanding of the molecular and cellular heterogeneity of GBM may not only help more accurately define specific subgroups for precise diagnosis but also lay the groundwork for the successful implementation of targeted therapy. Herein, we systematically review the key achievements in the understanding of GBM molecular pathogenesis, mechanisms, and biomarkers in the past decade. We discuss the advances in the molecular pathology of GBM, including genetics, epigenetics, transcriptomics, and signaling pathways. We also review the molecular biomarkers that have potential clinical roles. Finally, new strategies, current challenges, and future directions for discovering new biomarkers and therapeutic targets for GBM will be discussed.
Topics: Humans; Glioblastoma; Pathology, Molecular; Brain Neoplasms; Biomarkers; Gene Expression Profiling; Biomarkers, Tumor
PubMed: 38474286
DOI: 10.3390/ijms25053040 -
Science (New York, N.Y.) Jun 2020
Topics: COVID-19; Coronavirus Infections; Financing, Government; Humans; Pandemics; Patents as Topic; Pathology, Molecular; Pharmaceutical Preparations; Pneumonia, Viral; Vaccines
PubMed: 32499414
DOI: 10.1126/science.abc7472