-
Genetics in Medicine : Official Journal... Dec 2018
Topics: Adenosine Monophosphate; Consensus; Genetics, Medical; Genomics; Pathology, Molecular; United States
PubMed: 29543229
DOI: 10.1038/gim.2018.42 -
Med (New York, N.Y.) Feb 2021Studies of the major hemoglobin disorders, β-thalassemia and sickle cell disease (SCD), have laid a foundation for molecular medicine. While enormous progress has been... (Review)
Review
Studies of the major hemoglobin disorders, β-thalassemia and sickle cell disease (SCD), have laid a foundation for molecular medicine. While enormous progress has been made in understanding gene structure and regulation, translating molecular insights to therapy for the many individuals affected with these disorders has been challenging. Advances in three activities have recently converged to bring novel genetic and potentially curative treatments to clinical trials. First, improved lentiviral vectors for gene transfer into hematopoietic stem cells have revived somatic gene therapy for blood disorders. Second, elucidation of regulatory factors and mechanisms that control the normal developmental switch from fetal to adult hemoglobin has provided a route to reactivation of the fetal form for therapy. Third, revolutionary methods of gene engineering permit molecular insights to be leveraged for patients. Here I review how the promise of molecular medicine to bring transformative treatments to the clinical arena is finally being realized.
Topics: Adult; Genetic Therapy; Hemoglobinopathies; Hemoglobins; Humans; Molecular Medicine; beta-Thalassemia
PubMed: 33688634
DOI: 10.1016/j.medj.2020.12.011 -
Archives of Pathology & Laboratory... Mar 2018- In 2013, an evidence-based guideline was published by the College of American Pathologists, the International Association for the Study of Lung Cancer, and the...
Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology.
CONTEXT
- In 2013, an evidence-based guideline was published by the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology to set standards for the molecular analysis of lung cancers to guide treatment decisions with targeted inhibitors. New evidence has prompted an evaluation of additional laboratory technologies, targetable genes, patient populations, and tumor types for testing.
OBJECTIVE
- To systematically review and update the 2013 guideline to affirm its validity; to assess the evidence of new genetic discoveries, technologies, and therapies; and to issue an evidence-based update.
DESIGN
- The College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology convened an expert panel to develop an evidence-based guideline to help define the key questions and literature search terms, review abstracts and full articles, and draft recommendations.
RESULTS
- Eighteen new recommendations were drafted. The panel also updated 3 recommendations from the 2013 guideline.
CONCLUSIONS
- The 2013 guideline was largely reaffirmed with updated recommendations to allow testing of cytology samples, require improved assay sensitivity, and recommend against the use of immunohistochemistry for EGFR testing. Key new recommendations include ROS1 testing for all adenocarcinoma patients; the inclusion of additional genes ( ERBB2, MET, BRAF, KRAS, and RET) for laboratories that perform next-generation sequencing panels; immunohistochemistry as an alternative to fluorescence in situ hybridization for ALK and/or ROS1 testing; use of 5% sensitivity assays for EGFR T790M mutations in patients with secondary resistance to EGFR inhibitors; and the use of cell-free DNA to "rule in" targetable mutations when tissue is limited or hard to obtain.
Topics: Humans; Antineoplastic Agents; Genetic Testing; Lung Neoplasms; Molecular Targeted Therapy; Pathology, Molecular; Patient Selection; Protein Kinase Inhibitors; United States; Systematic Reviews as Topic
PubMed: 29355391
DOI: 10.5858/arpa.2017-0388-CP -
The American Journal of Pathology Jul 2019The past decade has witnessed exponential growth in the generation of high-throughput human data across almost all known dimensions of biological systems. The discipline... (Review)
Review
The past decade has witnessed exponential growth in the generation of high-throughput human data across almost all known dimensions of biological systems. The discipline of network medicine has rapidly evolved in parallel, providing an unbiased, comprehensive biological framework through which to interrogate and integrate systematically these large-scale, multi-omic data to enhance our understanding of disease mechanisms and to design drugs that reflect a deep knowledge of molecular pathobiology. In this review, we discuss the key principles of network medicine and the human disease network and explore the latest applications of network medicine in this multi-omic era. We also highlight the current conceptual and technological challenges, which serve as exciting opportunities by which to improve and expand the network-based applications beyond the artificial boundaries of the current state of human pathobiology.
Topics: Humans; Pathology, Clinical; Pathology, Molecular
PubMed: 31014954
DOI: 10.1016/j.ajpath.2019.03.009 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Jan 2022With the technological progresses and applications of human genome sequencing, bioinformatics analysis and data mining, and molecular pathology and artificial...
With the technological progresses and applications of human genome sequencing, bioinformatics analysis and data mining, and molecular pathology and artificial intelligence-assisted pathological diagnosis, the development of clinical medicine is moving towards the era of precision diagnosis and treatment. In the context of this era, the traditional diagnostic pathology is facing unprecedented opportunities and challenges in our history and is striving towards the "next-generation diagnostic pathology" (NGDP). NGDP is based on histomorphology and clinical data, and characterized by the combination of molecular detection and bioinformatics analysis, intelligent sampling and process quality control, intelligent diagnosis and remote consultation, lesion visualization and "non-invasive" pathology as well as other innovative cutting edge interdisciplinary technologies. The NGDP reports will include the results from multi-omics and cross-scale integrated diagnosis for final diagnosis. NGDP will also be applied for predicting disease progression and outcomes, and determining optional therapeutics as well as assessing treatment responses, so that a novel "golden standard" of disease diagnosis can be established. In the near fature, it is necessary to stimulate the innovative vitality of pathology disciplines, accelerate the maturity and application for NGDP, update the theory and technical system of pathology, and perform its important applicable role in the prevention, diagnosis, treatment of diseases so that the futher development of clinical medicine will be promoted and the strategy for maintenance of being healthy in China will be served.
Topics: Artificial Intelligence; China; Computational Biology; Humans; Pathology, Molecular
PubMed: 34979745
DOI: 10.3760/cma.j.cn112151-20211005-00726 -
Chemical Society Reviews Oct 2014
Topics: Amyloid beta-Peptides; Cell Death; Humans; Molecular Medicine; Neurodegenerative Diseases
PubMed: 25105517
DOI: 10.1039/c4cs90065k -
Molecular Systems Biology Apr 2016New fully integrated biosensors that monitor molecular and physiological parameters throughout our bodies are set to revolutionize medicine and personalized healthcare.
New fully integrated biosensors that monitor molecular and physiological parameters throughout our bodies are set to revolutionize medicine and personalized healthcare.
Topics: Biosensing Techniques; Delivery of Health Care; Humans; Molecular Medicine
PubMed: 27118815
DOI: 10.15252/msb.20166873 -
Trends in Molecular Medicine Apr 2021
Topics: Biographies as Topic; Humans; Molecular Medicine
PubMed: 33685849
DOI: 10.1016/j.molmed.2021.02.002 -
Cellular and Molecular Biology... Apr 2016To optimize treatment, we need to understand biology of different diseases in much more detail with emphasis on morphological, proteomic, genetic and epigenetic grounds....
To optimize treatment, we need to understand biology of different diseases in much more detail with emphasis on morphological, proteomic, genetic and epigenetic grounds. Keeping in view the facts and stimulating developments in molecular pathology, it is worthwhile to present an up-date on this topic.It is becoming progressively more understandable that exciting fields of pharmacogenomics and pharmacogenetics have revolutionized field of medicine. Better understanding of underlying mechanisms of different diseases has provided us with better ways to treat illnesses. There cannot be a distinct definition of 'discipline' of pathology, mainly because investigation of human disease encompasses all the scientific disciplines of biomedical research. Sen et al reported that hyperbarıc oxygen (HBO) administration affected the endocrinological functions of fat tissue. Observation of significant increases in leptin, visfatin and IL-10 levels, leads to the consideration that in near future HBO administration may be applied as treatment for obesity, DM, eating disorders and obesity related diseases...
Topics: Animals; Biological Products; Genetic Predisposition to Disease; Humans; Mice; Pathology, Molecular; Signal Transduction
PubMed: 27188861
DOI: No ID Found -
Surgical Pathology Clinics Sep 2021Molecular profiling studies have shed new light on the complex biology of prostate cancer. Genomic studies have highlighted that structural rearrangements are among the... (Review)
Review
Molecular profiling studies have shed new light on the complex biology of prostate cancer. Genomic studies have highlighted that structural rearrangements are among the most common recurrent alterations. In addition, both germline and somatic mutations in DNA repair genes are enriched in patients with advanced disease. Primary prostate cancer has long been known to be multifocal, but recent studies demonstrate that a large fraction of prostate cancer shows evidence of multiclonality, suggesting that genetically distinct, independently arising tumor clones coexist. Metastatic prostate cancer shows a high level of morphologic and molecular diversity, which is associated with resistance to systemic therapies. The resulting high level of intratumoral heterogeneity has important implications for diagnosis and poses major challenges for the implementation of molecular studies. Here we provide a concise review of the molecular pathology of prostate cancer, highlight clinically relevant alterations, and discuss opportunities for molecular testing.
Topics: Genomics; Humans; Male; Pathology, Molecular; Prostatic Neoplasms
PubMed: 34373091
DOI: 10.1016/j.path.2021.05.004