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Indian Journal of Pathology &... 2010Molecular diagnostic tools form a necessitity in the modern practice of pathology. This review aims to introduce some basic principles of molecular diagnostics to a... (Review)
Review
Molecular diagnostic tools form a necessitity in the modern practice of pathology. This review aims to introduce some basic principles of molecular diagnostics to a pathologist involved in the practice of histology. Some common clinical scenarios and the application of molecular techniques in those settings to obtain an accurate diagnosis is discussed.
Topics: Humans; Molecular Diagnostic Techniques; Pathology, Molecular
PubMed: 20551519
DOI: 10.4103/0377-4929.64322 -
Turk Patoloji Dergisi 2018Molecular pathological analysis has an expanding role in patient diagnosis and management. The performance of these techniques relies on excellent laboratory procedures.... (Review)
Review
Molecular pathological analysis has an expanding role in patient diagnosis and management. The performance of these techniques relies on excellent laboratory procedures. However, the crucial step is obtaining the best samples for molecular analysis. Archiving and selection of these are the responsibilities of all pathologists even if they are not working at a center with molecular pathological facilities. This review focuses on the features of different types of materials for molecular pathological analysis. Many steps that might affect the results, including communication between the pathologist and the oncology team, features of different types of materials (cytological, tissue blocks, biopsy, circulating tumor cells (CTCs) and cell-free circulating nucleic acids), effects of tissue processing, methods for selecting the best material, and tissue saving and tumor enrichment methods are discussed. The procedures for referral to a center for molecular pathological analysis are also mentioned. Awareness of the importance of the cytopathological and histopathological material of the patients for future molecular pathological analysis by pathologists is of the utmost importance.
Topics: Humans; Pathologists; Pathology, Clinical; Pathology, Molecular
PubMed: 29235614
DOI: 10.5146/tjpath.2017.01420 -
Virchows Archiv : An International... Feb 2024
Review
Topics: Humans; Pathology, Molecular; Neoplasms
PubMed: 38498226
DOI: 10.1007/s00428-024-03767-y -
Turk Patoloji Dergisi 2020In today's pathology practice, pathologists combine molecular tests with conventional histopathological methods. Pathology laboratories should therefore be designed and...
In today's pathology practice, pathologists combine molecular tests with conventional histopathological methods. Pathology laboratories should therefore be designed and operated in accordance with the requirements of molecular testing procedures. While the specifics of the requirements may vary depending on the spectrum of the tests that will be performed, there are several basic criteria that need to be fulfilled for standardization. Adequate space, appropriate equipment and qualified personnel are required to establish a molecular pathology laboratory. One of the most important points that should be taken into consideration while designing a molecular pathology laboratory is to create a plan to prevent contamination. As molecular diagnosis has a major role in treatment decisions, the management of the molecular pathology laboratory is of utmost importance. In this review, the criteria required to establish an optimal molecular pathology laboratory will be reviewed.
Topics: Humans; Laboratories; Pathologists; Pathology, Molecular; Workflow
PubMed: 32525209
DOI: 10.5146/tjpath.2020.01488 -
Cancer Journal (Sudbury, Mass.) 2014Legal and regulatory issues have assumed heightened importance in molecular pathology. Patents on relationships between human gene variants and clinical phenotypes, as... (Review)
Review
Legal and regulatory issues have assumed heightened importance in molecular pathology. Patents on relationships between human gene variants and clinical phenotypes, as well as on the underlying gene sequences themselves, have been extremely controversial. However, recent Supreme Court decisions appear to have rendered invalid these classes of patents. The Clinical Laboratory Improvement Amendments of 1988 have been the primary basis for laboratory oversight in the United States, whereas the Food and Drug Administration has been responsible for regulating in vitro test kits distributed in interstate commerce. However, the Food and Drug Administration has recently announced its intention to regulate laboratory-developed tests, raising concerns in the laboratory community. This article reviews recent developments impacting the legal status of gene patenting and oversight of molecular pathology testing in the United States.
Topics: Humans; Intellectual Property; Patents as Topic; Pathology, Molecular; United States
PubMed: 24445770
DOI: 10.1097/PPO.0000000000000012 -
Advances in Anatomic Pathology Nov 2016Morphology, as confronted in the everyday practice, often correlates with specific molecular features, which have important implications not only in pathogenesis and in... (Review)
Review
Morphology, as confronted in the everyday practice, often correlates with specific molecular features, which have important implications not only in pathogenesis and in diagnosis but also in prognosis and therapy. Thus, it is important that the classical pathology includes a sound knowledge of molecular aspects of disease. These molecular concepts are complex and not easily understood by all engaged in the routine practice of histopathology. Thus, the aim of this review is to present a summary of most of the necessary concepts for pathologists involving molecular pathology and genetics, beginning from basic definitions and mechanisms to major abnormalities and the methodology to detect them, correlating at the same time, the specific morphologic features associated with every abnormality.
Topics: Cytogenetics; Humans; Pathologists; Pathology, Molecular
PubMed: 27740961
DOI: 10.1097/PAP.0000000000000124 -
The Journal of Molecular Diagnostics :... May 2022Developments in genomics are profoundly influencing medical practice. With increasing use of genetic and genomic testing across every aspect of the health care... (Review)
Review
Molecular Pathology Education: A Suggested Framework for Primary Care Resident Training in Genomic Medicine: A Report of the Association for Molecular Pathology Training and Education Committee.
Developments in genomics are profoundly influencing medical practice. With increasing use of genetic and genomic testing across every aspect of the health care continuum, patients and their families are increasingly turning to primary care physicians (PCPs) for discussion and advice regarding tests, implications, and results. Yet, with the rapid growth of information, technology, and applications, PCPs are finding it challenging to fill the gaps in knowledge and support the growing needs of their patients. A critical component in expanding PCP genomic literacy lies in the education of physicians in training and in practice. Although a framework for developing physician competencies in genomics has already been developed, the Association for Molecular Pathology is uniquely situated to actively utilize the skills of its members to engage and support PCPs in this effort. This report provides an overview and a suggested basic teaching framework, which can be used by molecular professionals in their individual institutions as a starting point for educational outreach.
Topics: Curriculum; Genomic Medicine; Humans; Pathology, Molecular; Primary Health Care
PubMed: 35304347
DOI: 10.1016/j.jmoldx.2021.12.013 -
The Journal of Pathology Apr 2018As the cancer genomics of most major cancer types have been comprehensively catalogued over the past decade through a variety of national and international efforts, the...
As the cancer genomics of most major cancer types have been comprehensively catalogued over the past decade through a variety of national and international efforts, the delineation of cancer subtypes has been refined, and our understanding of critical cancer drivers and of the potentially targetable vulnerabilities that they create has grown tremendously. The 2018 Annual Review Issue of the Journal of Pathology provides in-depth assessments of how these pan-genomic approaches have enabled advances in cancer classification, targeted therapy selection, and assessment of cancer progression, all of which are now genomically informed, using several cancer types as examples. Beyond these areas of by now conventional pan-genomic tumour analysis, there are also reviews of diverse 'post-genomic' areas, such as the analysis of circulating free tumour DNA in plasma, concurrent germline cancer predisposition profiling in the setting of apparently sporadic cancer, genetic alterations in epigenetic control and DNA repair, proteomics of tumour heterogeneity, computational pathology, and the roles of the cellular stress response and the microbiome in human cancers. As we are able to derive more and more biologically useful information from diverse human biospecimens, these many advances are informing and transforming the practice of cancer pathology. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Topics: Animals; Biomarkers, Tumor; Genetic Predisposition to Disease; Genomics; Humans; Neoplasms; Pathology, Molecular; Phenotype; Predictive Value of Tests; Prognosis
PubMed: 29436707
DOI: 10.1002/path.5057 -
Der Pathologe Feb 2018As a result of some seminal observations as well as a consequence of increasing use of modern and innovative molecular diagnostic technologies, a variety of new... (Review)
Review
As a result of some seminal observations as well as a consequence of increasing use of modern and innovative molecular diagnostic technologies, a variety of new genetic aberrations have been discovered in head and neck neoplasms of different anatomic locations and histogenetic origins. These advances resulted in the establishment of new molecularly defined disease entities. On the other hand, some of these new genetic biomarkers paved the way to potentially promising novel therapeutic opportunities. Diverse old (well known in other entities) and newly discovered translocations and gene fusions represent the leading subgroup of these genetic aberrations. They have been detected not only in malignant epithelial neoplasms (carcinomas) of the salivary glands, but also in carcinomas from other head and neck sites as well as diverse mesenchymal tumors. In addition to these gene fusions, several activating mutations (such as CTNNB1 in sinonasal glomangiopericytoma) as well as inactivating mutations or deletions (like SMARCB1 loss in sinonasal carcinomas) were detected as new molecular markers. In the present review we summarize the relevant molecular alterations in topographically and histopathologically distinct tumors of the head and neck region with emphasis on recently established molecular markers.
Topics: Carcinoma, Squamous Cell; Head and Neck Neoplasms; Humans; Pathology, Molecular; Salivary Glands
PubMed: 29383488
DOI: 10.1007/s00292-018-0416-z -
International Journal of Surgical... Jun 2010
Review
Topics: Gastrointestinal Diseases; Humans; Pathology, Molecular
PubMed: 20484262
DOI: 10.1177/1066896910368593