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Journal of Biophotonics Dec 2013During the last 15 years, vibrational spectroscopic methods have been developed that can be viewed as molecular pathology methods that depend on sampling the entire... (Review)
Review
During the last 15 years, vibrational spectroscopic methods have been developed that can be viewed as molecular pathology methods that depend on sampling the entire genome, proteome and metabolome of cells and tissues, rather than probing for the presence of selected markers. First, this review introduces the background and fundamentals of the spectroscopies underlying the new methodologies, namely infrared and Raman spectroscopy. Then, results are presented in the context of spectral histopathology of tissues for detection of metastases in lymph nodes, squamous cell carcinoma, adenocarcinomas, brain tumors and brain metastases. Results from spectral cytopathology of cells are discussed for screening of oral and cervical mucosa, and circulating tumor cells. It is concluded that infrared and Raman spectroscopy can complement histopathology and reveal information that is available in classical methods only by costly and time-consuming steps such as immunohistochemistry, polymerase chain reaction or gene arrays. Due to the inherent sensitivity toward changes in the bio-molecular composition of different cell and tissue types, vibrational spectroscopy can even provide information that is in some cases superior to that of any one of the conventional techniques.
Topics: Animals; Humans; Lymphatic Metastasis; Neoplasms; Pathology, Molecular; Spectrophotometry, Infrared; Spectrum Analysis, Raman
PubMed: 24311233
DOI: 10.1002/jbio.201300131 -
Drug Discovery Today Dec 2015
Review
Topics: Biomarkers, Tumor; Humans; Neoplasms; Pathology, Molecular
PubMed: 26499202
DOI: 10.1016/j.drudis.2015.10.011 -
The Lancet. Oncology Oct 2021The 2013 SPIRIT (Standard Protocol Items: Recommendations for Interventional Trials) Statement provides evidence-based recommendations for the minimum content to be... (Review)
Review
The 2013 SPIRIT (Standard Protocol Items: Recommendations for Interventional Trials) Statement provides evidence-based recommendations for the minimum content to be included in a clinical trial protocol. Assessment of biospecimens is often required for trial eligibility or as part of an outcome evaluation, and precision molecular approaches are increasingly used in trial design. However, cellular and molecular pathology practices within trials have not been codified or formalised. We developed international consensus reporting guidelines for cellular and molecular pathology content in clinical trial protocols (the SPIRIT-Path extension) using an international Delphi process, which assesses candidate items generated from a previous systematic review, followed by an expert consensus meeting. 74 individuals from five continents responded, including clinicians, statisticians, laboratory scientists, patient advocates, funders, industry representatives, journal editors, and regulators. The SPIRIT-Path guidelines recommend 14 additional items (seven extensions to the SPIRIT checklist and seven elaborations) that should be addressed in trial protocols containing pathology content, alongside the SPIRIT 2013 Statement items. SPIRIT-Path recommends that protocols should document the individuals, processes, and standards for all cellular and molecular pathology components of the trial, including all stages of the specimen pathway and any digital pathology methods, with specific consideration of the value of trial data and biological tissues for additional translational studies.
Topics: Checklist; Clinical Trial Protocols as Topic; Clinical Trials as Topic; Consensus; Delphi Technique; Humans; Pathology, Molecular; Research Design
PubMed: 34592193
DOI: 10.1016/S1470-2045(21)00344-2 -
Endocrine Pathology Mar 2021
Topics: Endocrine Gland Neoplasms; Endocrinology; Humans; Pathology, Molecular; Practice Patterns, Physicians'; Publishing
PubMed: 33624136
DOI: 10.1007/s12022-021-09670-5 -
Leukemia & Lymphoma 2015The diagnosis of myelodysplastic syndromes (MDS) has been based on clinical presentations, laboratory and morphological findings, and molecular and cytogenetic profiles.... (Review)
Review
The diagnosis of myelodysplastic syndromes (MDS) has been based on clinical presentations, laboratory and morphological findings, and molecular and cytogenetic profiles. With the advent of single nucleotide polymorphism (SNP) microarrays and high throughput sequencing technologies, a tremendous amount of progress has been made toward better understanding of MDS genetic and molecular changes. Recurring genetic abnormalities have been revealed in up to 80-90% of MDS patients. We herein review clinical and pathological basis of MDS, the most up-to-date advances in molecular diagnostics of MDS, including current understanding of cytogenetic and molecular markers of MDS, and their implications for MDS diagnosis and therapy selection.
Topics: Biomarkers; Clinical Decision-Making; Diagnosis, Differential; Disease Management; Humans; Molecular Diagnostic Techniques; Myelodysplastic Syndromes; Pathology, Molecular; Prognosis
PubMed: 25927244
DOI: 10.3109/10428194.2015.1037756 -
Expert Review of Molecular Diagnostics Jan 2017Molecular tests that were once ancillary to the core business of cyto-histopathology are becoming the most relevant workload in pathology departments after... (Review)
Review
Molecular tests that were once ancillary to the core business of cyto-histopathology are becoming the most relevant workload in pathology departments after histopathology/cytopathology and before autopsies. This has resulted from innovations in molecular biology techniques, which have developed at an incredibly fast pace. Areas covered: Most of the current widely used techniques in molecular pathology such as FISH, direct sequencing, pyrosequencing, and allele-specific PCR will be replaced by massive parallel sequencing that will not be considered next generation, but rather, will be considered to be current generation sequencing. The pre-analytical steps of molecular techniques such as DNA extraction or sample preparation will be largely automated. Moreover, all the molecular pathology instruments will be part of an integrated workflow that traces the sample from extraction to the analytical steps until the results are reported; these steps will be guided by expert laboratory information systems. In situ hybridization and immunohistochemistry for quantification will be largely digitalized as much as histology will be mostly digitalized rather than viewed using microscopy. Expert commentary: This review summarizes the technical and regulatory issues concerning the standardization of molecular tests in pathology. A vision of the future perspectives of technological changes is also provided.
Topics: DNA, Neoplasm; Humans; In Situ Hybridization, Fluorescence; Neoplasms; Pathology, Molecular; Polymerase Chain Reaction; Prognosis
PubMed: 27897454
DOI: 10.1080/14737159.2017.1266258 -
Methods in Molecular Biology (Clifton,... 2023Contamination in a molecular laboratory may lead to erroneous results with potential to cause patient harm if not promptly identified and corrected. A general overview... (Review)
Review
Contamination in a molecular laboratory may lead to erroneous results with potential to cause patient harm if not promptly identified and corrected. A general overview of the practices used in molecular laboratories to identify and address contamination once an event has occurred is discussed. The process used to assess the risk associated with the identified contamination event, determine the appropriate course of immediate action, perform a root cause analysis to determine the source of contamination, and assess and document the results of the decontamination process will be reviewed. Finally, the chapter will discuss a return to normal with consideration of appropriate corrective actions to mitigate future contamination events.
Topics: Humans; Laboratories; Pathology, Molecular; Polymerase Chain Reaction
PubMed: 37041437
DOI: 10.1007/978-1-0716-2950-5_2 -
Human Pathology Jan 2020The past 50 years has been an era of technological innovation converging with the now dominant culture of testing hypotheses using clinical trials and case cohort... (Review)
Review
The past 50 years has been an era of technological innovation converging with the now dominant culture of testing hypotheses using clinical trials and case cohort methodology with rigorous statistical analysis. Great advances have been made in early diagnosis and, especially, less toxic and disfiguring primary therapy. Many of the advances in pathology have been in conjunction with efforts to support clinical initiatives, improve diagnostic reliability and translate basic science discoveries into tests that stratify patient management. Pathologists, with the support of epidemiologists, have lead significant advancements in the description and clinical significance of benign breast disease. Despite considerable efforts, the cure for breast cancer awaits better understanding of the pathophysiology of metastasis. We stand now at the brink a new era of technology, in which powerful genomic assays may be put to use in uncovering targets of therapy and defining mechanisms of disease progression. Pathologists must be active in ensuring that discoveries in this realm are optimized by assuring association with appropriate histological correlation and valid clinical endpoints.
Topics: Biomarkers, Tumor; Breast; Breast Neoplasms; Diffusion of Innovation; Female; Genetic Predisposition to Disease; History, 20th Century; History, 21st Century; Humans; Pathology, Molecular
PubMed: 31682887
DOI: 10.1016/j.humpath.2019.09.007 -
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 -
Therapeutische Umschau. Revue... Sep 2019Current methods in molecular pathology Macroscopy and microscopy were the cornerstones of tumor analysis in pathology for many years. Recently, we have witnessed an... (Review)
Review
Current methods in molecular pathology Macroscopy and microscopy were the cornerstones of tumor analysis in pathology for many years. Recently, we have witnessed an enormous increase in knowledge of genetic and epigenetic alterations occurring in tumors. The detection of these alterations is becoming increasingly important during pathological work-up because they have an important impact on the diagnosis, prognosis, therapy, and prevention of tumors. It is therefore crucial to have appropriate methods available to detect these genetic alterations, such as mutations, translocations or changes in the methylation profile. In the following review article, we will present current methods that are being applied in molecular pathology.
Topics: Epigenesis, Genetic; Humans; Neoplasms; Pathology, Molecular; Prognosis
PubMed: 31498035
DOI: 10.1024/0040-5930/a001081