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Cancer Cytopathology Sep 2020The advent of molecular targets for novel therapeutics in oncology, notably for non-small cell lung carcinoma (NSCLC), led the French National Cancer Institute (INCa) to... (Review)
Review
The advent of molecular targets for novel therapeutics in oncology, notably for non-small cell lung carcinoma (NSCLC), led the French National Cancer Institute (INCa) to establish a national network of 28 hospital Molecular Genetics Centers for Cancer (MGCC) in 2007. In each University in France, laboratories were established to develop molecular biology testing to evaluate a few genomic alterations, initially a selection of genes, by using specific targeted polymerase chain reaction (PCR) assays. In a second phase, the number of studied genes was increased. In 2015, the MGCC benefited from an additional dedicated budget from the INCa to develop next-generation sequencing (NGS) technology. In the meantime, a new financial regulation for innovative testing has been established for the acts out of nomenclature. Consequently, all private and public laboratories in France have access to funding for molecular biology testing in oncology. The gene-based PCR assays or NGS tests have benefitted from reimbursement of cost testing by the INCa. Today, the laboratories consider this reimbursement to be only partial, and its use to be complex. In 2018, a strategic plan for medical genomic analyses (France Médecine Génomique 2025) was implemented to introduce more systematic sequencing into the health care pathway and oncology practice. The large panel of molecular tests should be centralized to a limited number of molecular genetic centers. This review describes the evolution of the different stages of implementation of molecular pathology testing for NSCLC patients over the last few years in France.
Topics: Biomarkers, Tumor; Carcinoma, Non-Small-Cell Lung; Cytodiagnosis; France; High-Throughput Nucleotide Sequencing; Humans; Lung Neoplasms; Molecular Diagnostic Techniques; Pathology, Molecular; Predictive Value of Tests
PubMed: 32885912
DOI: 10.1002/cncy.22318 -
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 -
Turk Patoloji Dergisi 2021Aziz Sancar, Nobel Prize winning Turkish scientist, made several discoveries which had a major impact on molecular sciences, particularly disciplines that focus on... (Review)
Review
Aziz Sancar, Nobel Prize winning Turkish scientist, made several discoveries which had a major impact on molecular sciences, particularly disciplines that focus on carcinogenesis and cancer treatment, including molecular pathology. Cloning the photolyase gene, which was the initial step of his work on DNA repair mechanisms, discovery of the "Maxicell" method, explanation of the mechanism of nucleotide excision repair and transcription-coupled repair, discovery of "molecular matchmakers", and mapping human excision repair genes at single nucleotide resolution constitute his major research topics. Moreover, Sancar discovered the cryptochromes, the clock genes in humans, in 1998, and this discovery led to substantial progress in the understanding of the circadian clock and the introduction of the concept of "chrono-chemoterapy" for more effective therapy in cancer patients. This review focuses on Aziz Sancar's scientific studies and their reflections on molecular pathology of neoplastic diseases. While providing a new perspective for researchers working in the field of pathology and molecular pathology, this review is also an evidence of how basic sciences and clinical sciences complete each other.
Topics: Biomedical Research; Cloning, Molecular; Cryptochromes; DNA Repair; Deoxyribodipyrimidine Photo-Lyase; Gene Expression Regulation, Neoplastic; History, 20th Century; History, 21st Century; Humans; Neoplasms; Nobel Prize; Pathology, Molecular
PubMed: 33973640
DOI: 10.5146/tjpath.2020.01504 -
Cancer Cytopathology Sep 2020Predictive molecular testing has become an important part of the diagnosis of any patient with lung cancer. Using reliable methods to ensure timely and accurate results... (Review)
Review
Predictive molecular testing has become an important part of the diagnosis of any patient with lung cancer. Using reliable methods to ensure timely and accurate results is inevitable for guiding treatment decisions. In the past few years, parallel sequencing has been established for mutation testing, and its use is currently broadened for the detection of other genetic alterations, such as gene fusion and copy number variations. In addition, conventional methods such as immunohistochemistry and in situ hybridization are still being used, either for formalin-fixed, paraffin-embedded tissue or for cytological specimens. For the development and broad implementation of such complex technologies, interdisciplinary and regional networks are needed. The Network Genomic Medicine (NGM) has served as a model of centralized testing and decentralized treatment of patients and incorporates all German comprehensive cancer centers. Internal quality control, laboratory accreditation, and participation in external quality assessment is mandatory for the delivery of reliable results. Here, we provide a summary of current technologies used to identify patients who have lung cancer with gene fusions, briefly describe the structures of NGM and the national NGM (nNGM), and provide recommendations for quality assurance.
Topics: Biomarkers, Tumor; Cytodiagnosis; Gene Fusion; Germany; Humans; Lung Neoplasms; Molecular Diagnostic Techniques; Pathology, Molecular; Predictive Value of Tests
PubMed: 32885916
DOI: 10.1002/cncy.22293 -
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 -
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 -
Archives of Pathology & Laboratory... Jun 2014
Topics: Biomarkers, Tumor; Head and Neck Neoplasms; Humans; Inflammation; Pathology, Molecular
PubMed: 24878012
DOI: 10.5858/arpa.2014-0060-ED