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Pathologie (Heidelberg, Germany) Sep 2023In recent years, the treatment of colorectal carcinoma has experienced increasing individualization. In addition to RAS and BRAF mutational status that is firmly... (Review)
Review
In recent years, the treatment of colorectal carcinoma has experienced increasing individualization. In addition to RAS and BRAF mutational status that is firmly established in routine diagnostics, new therapeutic options evolved based on MSI and HER2 status as well as primary tumour localization. Offering the best targeted options in therapy requires new evidence-based decision-making algorithms regarding timing and scope of molecular pathological diagnostics in order for patients to receive an optimized therapy according to current treatment guidelines. New targeted therapies, some of which are about to be approved and for which pathology has to provide new molecular pathological biomarkers, will also play an increasingly important role in the future.
Topics: Humans; Colorectal Neoplasms; Proto-Oncogene Proteins B-raf; Pathology, Molecular; Biomarkers
PubMed: 37277480
DOI: 10.1007/s00292-023-01201-9 -
Frontiers in Cellular and Infection... 2022
Topics: Drug Resistance, Fungal; Humans; Molecular Epidemiology; Mycoses
PubMed: 35711661
DOI: 10.3389/fcimb.2022.939140 -
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 -
American Journal of Clinical Pathology Jul 2020At a discussion on molecular/cytogenetic education for hematopathology fellows at the 2018 Society for Hematopathology Program Directors Meeting, consensus was that...
OBJECTIVES
At a discussion on molecular/cytogenetic education for hematopathology fellows at the 2018 Society for Hematopathology Program Directors Meeting, consensus was that fellows should understand basic principles and indications for and limitations of molecular/cytogenetic testing used in routine practice. Fellows should also be adept at integrating results of such testing for rendering a final diagnosis. To aid these consensus goals, representatives from the Society for Hematopathology and the Association for Molecular Pathology formed a working group to devise a molecular/cytogenetic curriculum for hematopathology fellow education.
CURRICULUM SUMMARY
The curriculum includes a primer on cytogenetics and molecular techniques. The bulk of the curriculum reviews the molecular pathology of individual malignant hematologic disorders, with applicable molecular/cytogenetic testing for each and following the 2017 World Health Organization classification of hematologic neoplasms. Benign hematologic disorders and bone marrow failure syndromes are also discussed briefly. Extensive tables are used to summarize genetics of individual disorders and appropriate methodologies.
CONCLUSIONS
This curriculum provides an overview of the current understanding of the molecular biology of hematologic disorders and appropriate ancillary testing for their evaluation. The curriculum may be used by program directors for training hematopathology fellows or by practicing hematopathologists.
Topics: Curriculum; Education, Medical, Graduate; Fellowships and Scholarships; Hematology; Humans; Pathology, Clinical; Pathology, Molecular
PubMed: 32444878
DOI: 10.1093/ajcp/aqaa038 -
Advanced Materials (Deerfield Beach,... May 2023The global outbreaks of infectious diseases have significantly driven an imperative demand for rapid and accurate molecular diagnostics. Nucleic acid amplification tests... (Review)
Review
The global outbreaks of infectious diseases have significantly driven an imperative demand for rapid and accurate molecular diagnostics. Nucleic acid amplification tests (NAATs) feature high sensitivity and high specificity; however, the labor-intensive sample preparation and nucleic acid amplification steps remain challenging in order to carry out rapid and precision molecular diagnostics at home. This review discusses the advances and challenges of automatic solutions of sample preparation integrated with on-chip nucleic acid amplification for effective and accurate molecular diagnostics at home. The sample preparation methods of whole blood, urine, saliva/nasal swab, and stool on chip are examined. Then, the repurposable integrated sample preparation on a chip using various biological samples is investigated. Finally, the on-chip NAATs that can be integrated with automated sample preparation are evaluated. The user-friendly approaches with combined sample preparation and NAATs can be the game changers for next-generation rapid and precision home diagnostics.
Topics: Pathology, Molecular; Body Fluids; Saliva; Nucleic Acids; Nucleic Acid Amplification Techniques
PubMed: 36416278
DOI: 10.1002/adma.202206525 -
Der Chirurg; Zeitschrift Fur Alle... Nov 2021New diagnostic tools in the field of oncology that became available with introduction of the next generation sequencing call for adjustments in the current clinical... (Review)
Review
BACKGROUND
New diagnostic tools in the field of oncology that became available with introduction of the next generation sequencing call for adjustments in the current clinical workflow. To ensure correct interpretation, newly collected data need to be processed and categorized properly. Thus, current experts in oncology need to be trained and new experts from other fields need to be recruited.
OBJECTIVES
The molecular tumor board was introduced to bring experts from various specialties together. The goal is to discuss and assess complex oncological cases in the context of new molecular diagnostics and give recommendations regarding individualized therapy.
RESULTS
After the introduction of the molecular tumor board 2 years ago, the number of cases processed within the molecular tumor board has increased steadily. Of these patients, 70% exhibit molecular alterations that are relevant to therapy. Preliminary results indicate positive responses to the applied therapies and clear improvements in the progression-free and overall survival of patients who would have been considered "untreatable" in the classical clinical setting.
CONCLUSION
The introduction of new molecular diagnostics makes the establishment of advanced clinical structures mandatory. In this regard, the molecular tumor board continues to gain in importance. Preliminary results point towards a significant impact on the therapy of advanced malignancies. The advancements in sequencing and newly established insights into the interpretation of sequencing results will lead to new therapeutic routes. Inevitably, this will make the molecular tumor board indispensable in the future.
Topics: High-Throughput Nucleotide Sequencing; Humans; Medical Oncology; Neoplasms; Pathology, Molecular; Precision Medicine
PubMed: 34406439
DOI: 10.1007/s00104-021-01487-6 -
Advances in Cancer Research 2023Head and neck cancers are a heterogeneous group of highly aggressive tumors and collectively represent the sixth most common cancer worldwide. Most head and neck cancers... (Review)
Review
Head and neck cancers are a heterogeneous group of highly aggressive tumors and collectively represent the sixth most common cancer worldwide. Most head and neck cancers are squamous cell carcinomas (HNSCCs). Current multimodal treatment concepts combine surgery, chemotherapy, irradiation, immunotherapy, and targeted therapeutics. Recent scientific advancements have enabled a more precise molecular characterization of HNSCC and revealed novel therapeutic targets and prognostic/predictive biomarkers. Notably, HNSCC is characterized by complex relations between stromal, epithelial, and immune cells within the tumor microenvironment (TME). The TME consists of different subsets of immune cells that infiltrate the tumors and interact with the tumor cells or with each other. Understanding multiple pivotal factors in HNSCC tumorigenesis and tumor progression may help define novel targets and develop more effective therapies for patients. This review provides a comprehensive overview of the latest advances in the molecular biology of HNSCC and their effects on clinical oncology; it is meant for a broad readership in the head and neck cancers field.
Topics: Humans; Molecular Medicine; Squamous Cell Carcinoma of Head and Neck; Head and Neck Neoplasms; Immunotherapy; Combined Modality Therapy; Tumor Microenvironment
PubMed: 37704289
DOI: 10.1016/bs.acr.2023.03.004 -
Haematologica Sep 2022
Topics: Humans; Molecular Medicine
PubMed: 36047317
DOI: 10.3324/haematol.2022.281711 -
Pathology International Dec 2020The year 2019 was considered to be the first year of cancer genome medicine in Japan, with three gene-panel tests using next-generation sequencing (NGS) techniques being... (Review)
Review
The year 2019 was considered to be the first year of cancer genome medicine in Japan, with three gene-panel tests using next-generation sequencing (NGS) techniques being introduced into clinical practice. Among the three tests, the Oncomine CDx Target test was approved under the category of regular molecular testing for lung cancer, which meant that this test could be used to select patients for molecularly targeted drugs. Conversely, the other two tests, NCC OncoPanel and FoundationOne CDx, were assigned to be used under the National Cancer Genome Medicine Network, and implementation was restricted to patients for whom standard treatment was completed or expected to be completed. These NGS tests can detect a series of genetic alterations in individual tumors, which further promotes the development of therapeutic agents and elucidates molecular pathways. The NGS tests require appropriate tissue size and tumor cell content, which can be accessed only by pathologists. In this report, we review the current reimbursement schema in our national healthcare policy and the requirements of the specimens for NGS testing based on the recently published 'Guidance of Gene-panel Testing Using Next-Generation Sequencers for Lung Cancer', by the Japanese Society of Lung Cancer.
Topics: DNA, Neoplasm; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Lung Neoplasms; Mutation; Pathology, Molecular
PubMed: 32956529
DOI: 10.1111/pin.13023 -
Der Hautarzt; Zeitschrift Fur... Oct 2019Using current diagnostic tools for hand eczema, namely clinical picture and histology, differential diagnoses such as psoriasis palmaris usually cannot be ruled out. (Review)
Review
BACKGROUND
Using current diagnostic tools for hand eczema, namely clinical picture and histology, differential diagnoses such as psoriasis palmaris usually cannot be ruled out.
OBJECTIVES
Discussion of current diagnostic possibilities for hand eczema; presentation and critical evaluation of proposed biomarkers for molecular diagnostics and outlook how diagnostics in dermatology will change in the near future.
MATERIALS AND METHODS
In this article, we discuss basic research and provide a review of the literature.
RESULTS
Molecular diagnostics has the potential to substantially improve diagnosis of hand eczema; prerequisites are prospective validation of proposed markers and availability of valid and cost-effective diagnostics.
CONCLUSIONS
In the near future, the diagnosis of hand eczema will be complemented by software algorithms and artificial intelligence on the one hand and simple, precise, and economic molecular diagnostic devices on the other.
Topics: Algorithms; Artificial Intelligence; Dermatology; Eczema; Hand Dermatoses; Humans; Pathology, Molecular; Precision Medicine; Software
PubMed: 31468073
DOI: 10.1007/s00105-019-4466-9