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Chinese Medical Journal Dec 2022The prognosis for diffusely infiltrating gliomas at World Health Organization (WHO) grade 2-4 remains dismal due to their heterogeneity. The rapid development of...
The prognosis for diffusely infiltrating gliomas at World Health Organization (WHO) grade 2-4 remains dismal due to their heterogeneity. The rapid development of genome-wide molecular-profiling-associated studies has greatly promoted the accuracy of glioma classification. Thus, the latest version of the WHO classification of the central nervous system tumors published in 2021 has incorporated more molecular biomarkers together with histological features for the diagnosis of gliomas. Advanced usage of molecular pathology in clinical diagnostic practice provides also new opportunities for the therapy of patients with glioma, including surgery, radiotherapy and chemotherapy, targeted therapy, immunotherapy, and more precision clinical trials. Herein, we highlight the updates in the classification of gliomas according to the latest WHO guidelines and summarize the clinically relevant molecular markers by focusing on their applications in clinical practice. We also review the advances in molecular features of gliomas, which can facilitate the development of glioma therapies, thereby discussing the challenges and future directions of molecular pathology toward precision medicine for patients with glioma.
Topics: Humans; Pathology, Molecular; Mutation; Glioma; Prognosis; Central Nervous System Neoplasms; World Health Organization; Brain Neoplasms
PubMed: 36728558
DOI: 10.1097/CM9.0000000000002446 -
Archives of Pathology & Laboratory... Nov 2021
Topics: Biopsy; Cytodiagnosis; Diagnosis, Differential; Humans; Immunohistochemistry; Molecular Diagnostic Techniques; Pathology, Molecular; Pathology, Surgical; Predictive Value of Tests; Reproducibility of Results
PubMed: 34673909
DOI: 10.5858/arpa.2021-0375-ED -
Cancer Cytopathology Jun 2017Molecular diagnostics and cytopathology ideally are complementary medical services. When used together, they provide optimal benefit to patient care with the least risk... (Review)
Review
Molecular diagnostics and cytopathology ideally are complementary medical services. When used together, they provide optimal benefit to patient care with the least risk of complications. However, many cytopathology laboratories are reluctant to bring in molecular tests, in part due to inexperience with regard to molecular test validation. This article is a brief review of the basic principles of molecular test validation as it applies to cytopathology samples. Regulatory constraints, practical considerations, and issues that are particular to cytopathology samples are discussed, along with a brief review of issues that pertain specifically to next-generation sequencing. This review should serve as a general guide to validating molecular tests in the cytopathology laboratory. Cancer Cytopathol 2017;125(6 suppl):465-9. © 2017 American Cancer Society.
Topics: High-Throughput Nucleotide Sequencing; Humans; Molecular Diagnostic Techniques; Neoplasms; Pathology, Clinical; Pathology, Molecular; Reproducibility of Results; Sequence Analysis, DNA
PubMed: 28609008
DOI: 10.1002/cncy.21871 -
Molecular Psychiatry May 2023Despite enormous efforts employing various approaches, the molecular pathology in the schizophrenia brain remains elusive. On the other hand, the knowledge of the... (Review)
Review
Despite enormous efforts employing various approaches, the molecular pathology in the schizophrenia brain remains elusive. On the other hand, the knowledge of the association between the disease risk and changes in the DNA sequences, in other words, our understanding of the genetic pathology of schizophrenia, has dramatically improved over the past two decades. As the consequence, now we can explain more than 20% of the liability to schizophrenia by considering all analyzable common genetic variants including those with weak or no statistically significant association. Also, a large-scale exome sequencing study identified single genes whose rare mutations substantially increase the risk for schizophrenia, of which six genes (SETD1A, CUL1, XPO7, GRIA3, GRIN2A, and RB1CC1) showed odds ratios larger than ten. Based on these findings together with the preceding discovery of copy number variants (CNVs) with similarly large effect sizes, multiple disease models with high etiological validity have been generated and analyzed. Studies of the brains of these models, as well as transcriptomic and epigenomic analyses of patient postmortem tissues, have provided new insights into the molecular pathology of schizophrenia. In this review, we overview the current knowledge acquired from these studies, their limitations, and directions for future research that may redefine schizophrenia based on biological alterations in the responsible organ rather than operationalized criteria.
Topics: Humans; Schizophrenia; Pathology, Molecular; Genome-Wide Association Study; Genetic Predisposition to Disease; Mutation; DNA Copy Number Variations
PubMed: 36878965
DOI: 10.1038/s41380-023-02005-2 -
Advanced Healthcare Materials Apr 2018Engineered polymer vesicles, termed as polymersomes, confer a flexibility to control their structure, properties, and functionality. Self-assembly of amphiphilic... (Review)
Review
Engineered polymer vesicles, termed as polymersomes, confer a flexibility to control their structure, properties, and functionality. Self-assembly of amphiphilic copolymers leads to vesicles consisting of a hydrophobic bilayer membrane and hydrophilic core, each of which is loaded with a wide array of small and large molecules of interests. As such, polymersomes are increasingly being studied as carriers of imaging probes and therapeutic drugs. Effective delivery of polymersomes necessitates careful design of polymersomes. Therefore, this review article discusses the design strategies of polymersomes developed for enhanced transport and efficacy of imaging probes and therapeutic drugs. In particular, the article focuses on overviewing technologies to regulate the size, structure, shape, surface activity, and stimuli- responsiveness of polymersomes and discussing the extent to which these properties and structure of polymersomes influence the efficacy of cargo molecules. Taken together with future considerations, this article will serve to improve the controllability of polymersome functions and accelerate the use of polymersomes in biomedical applications.
Topics: Animals; Drug Carriers; Humans; Nanoparticles; Particle Size; Pathology, Molecular; Polymers
PubMed: 29334183
DOI: 10.1002/adhm.201701276 -
The Journal of Molecular Diagnostics :... Feb 2022
Topics: Biomarkers; Humans; Pathology, Molecular; Surveys and Questionnaires
PubMed: 34838775
DOI: 10.1016/j.jmoldx.2021.11.003 -
Saudi Medical Journal Sep 2023Colorectal cancer (CRC) is one of the most common cancers worldwide, and one of the most common causes of cancer deaths. In recent times, significant advancements have... (Review)
Review
Colorectal cancer (CRC) is one of the most common cancers worldwide, and one of the most common causes of cancer deaths. In recent times, significant advancements have been made in elucidating the molecular alterations of the disease, and the results have been an improved understanding of CRC biology, as well as the discovery of biomarkers of diagnostic, prognostic, and therapeutic significance. In this review, an evaluation is carried out of the molecular pathology research of CRC emanating from Saudi Arabia. The verdict is that the data on the molecular alterations in CRC from Saudi patients is at best modest. This dearth of molecular pathology data is aptly reflected in the paucity of molecular markers recommended for testing by the Saudi National Cancer Centre guidelines for CRC management. Large scale multi-institutional and multiregional translational studies are required to generate molecular data that would inform diagnostic, prognostic, and risk-stratification guidelines for Saudi CRC patients.
Topics: Humans; Pathology, Molecular; Saudi Arabia; Health Facilities; Colorectal Neoplasms
PubMed: 37717975
DOI: 10.15537/smj.2023.44.9.20230257 -
International Journal of Molecular... Apr 2020Riboswitches and toehold switches are considered to have potential for implementation in various fields, i.e., biosensing, metabolic engineering, and molecular... (Review)
Review
Riboswitches and toehold switches are considered to have potential for implementation in various fields, i.e., biosensing, metabolic engineering, and molecular diagnostics. The specific binding, programmability, and manipulability of these RNA-based molecules enable their intensive deployments in molecular detection as biosensors for regulating gene expressions, tracking metabolites, or detecting RNA sequences of pathogenic microorganisms. In this review, we will focus on the development of riboswitches and toehold switches in biosensing and molecular diagnostics. This review introduces the operating principles and the notable design features of riboswitches as well as toehold switches. Moreover, we will describe the advances and future directions of riboswitches and toehold switches in biosensing and molecular diagnostics.
Topics: Biosensing Techniques; Pathology, Molecular; Riboswitch
PubMed: 32366036
DOI: 10.3390/ijms21093192 -
Virchows Archiv : An International... Feb 2024The continuing evolution of treatment options in thoracic oncology requires the pathologist to regularly update diagnostic algorithms for management of tumor samples. It... (Review)
Review
The continuing evolution of treatment options in thoracic oncology requires the pathologist to regularly update diagnostic algorithms for management of tumor samples. It is essential to decide on the best way to use tissue biopsies, cytological samples, as well as liquid biopsies to identify the different mandatory predictive biomarkers of lung cancers in a short turnaround time. However, biological resources and laboratory member workforce are limited and may be not sufficient for the increased complexity of molecular pathological analyses and for complementary translational research development. In this context, the surgical pathologist is the only one who makes the decisions whether or not to send specimens to immunohistochemical and molecular pathology platforms. Moreover, the pathologist can rapidly contact the oncologist to obtain a new tissue biopsy and/or a liquid biopsy if he/she considers that the biological material is not sufficient in quantity or quality for assessment of predictive biomarkers. Inadequate control of algorithms and sampling workflow may lead to false negative, inconclusive, and incomplete findings, resulting in inappropriate choice of therapeutic strategy and potentially poor outcome for patients. International guidelines for lung cancer treatment are based on the results of the expression of different proteins and on genomic alterations. These guidelines have been established taking into consideration the best practices to be set up in clinical and molecular pathology laboratories. This review addresses the current predictive biomarkers and algorithms for use in thoracic oncology molecular pathology as well as the central role of the pathologist, notably in the molecular tumor board and her/his participation in the treatment decision-making. The perspectives in this setting will be discussed.
Topics: Female; Humans; Carcinoma, Non-Small-Cell Lung; Lung Neoplasms; Pathology, Molecular; Biomarkers, Tumor; Biopsy
PubMed: 37801103
DOI: 10.1007/s00428-023-03651-1 -
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