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Advances in Anatomic Pathology Mar 2016Molecular diagnostic testing presents new challenges to information management that are yet to be sufficiently addressed by currently available information systems for... (Review)
Review
Molecular diagnostic testing presents new challenges to information management that are yet to be sufficiently addressed by currently available information systems for the molecular laboratory. These challenges relate to unique aspects of molecular genetic testing: molecular test ordering, informed consent issues, diverse specimen types that encompass the full breadth of specimens handled by traditional anatomic and clinical pathology information systems, data structures and data elements specific to molecular testing, varied testing workflows and protocols, diverse instrument outputs, unique needs and requirements of molecular test reporting, and nuances related to the dissemination of molecular pathology test reports. By satisfactorily addressing these needs in molecular test data management, a laboratory information system designed for the unique needs of molecular diagnostics presents a compelling reason to migrate away from the current paper and spreadsheet information management that many molecular laboratories currently use. This paper reviews the issues and challenges of information management in the molecular diagnostics laboratory.
Topics: Molecular Diagnostic Techniques; Pathology, Molecular; Specimen Handling
PubMed: 26849819
DOI: 10.1097/PAP.0000000000000109 -
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 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Jan 2014
Topics: Diagnostic Imaging; Genes, Neoplasm; High-Throughput Screening Assays; Humans; Molecular Diagnostic Techniques; Molecular Targeted Therapy; Neoplasms; Pathology, Molecular; Precision Medicine
PubMed: 24713240
DOI: No ID Found -
Experimental and Molecular Pathology Jun 2024Histopathological assessment of tissue samples after prolonged formalin fixation has been described previously, but currently there is only limited knowledge regarding...
Histopathological assessment of tissue samples after prolonged formalin fixation has been described previously, but currently there is only limited knowledge regarding the feasibility of molecular pathology on such tissue. In this pilot study, we tested routine molecular pathology methods (DNA isolation, DNA pyrosequencing/next-generation sequencing, DNA methylation analysis, RT-PCR, clonality analysis and fluorescence in situ hybridization) on tissue samples from 11 tumor entities as well as non-neoplastic brain tissue from 43 body donors during the gross anatomy course at Ulm University (winter semester 2019/20 and 2020/21). The mean post mortem interval until fixation was 2.5 ± 1.6 days (range, 1-6 days). Fixation was performed with aqueous formaldehyde solution (formalin, 1.5-2%). The mean storage time of body donors was 12.8 ± 5.6 months (range, 7-25 months). While most diagnostic methods were successful, samples showed significant variability in DNA quality and evaluability. DNA pyrosequencing as well as next-generation sequencing was successful in all investigated samples. Methylation analyses were partially not successful in some extend due to limited intact DNA yield for these analyses. Taken together, the use of prolonged formalin-fixed tissue samples from body donors offers new avenues in research and education, as these samples could be used for morpho-molecular studies and the establishment of biobanks, especially for tissue types that cannot be preserved and studied in vivo. Pathological ward rounds, sample collection, and histopathological and molecular workup have been integrated in the gross anatomy course in Ulm as an integral part of the curriculum, linking anatomy and pathology and providing medical students early insight into the broad field of (molecular) pathology.
Topics: Humans; Tissue Fixation; Pathology, Molecular; Formaldehyde; DNA Methylation; Tissue Donors; High-Throughput Nucleotide Sequencing; Pilot Projects; In Situ Hybridization, Fluorescence; Female; Neoplasms
PubMed: 38761540
DOI: 10.1016/j.yexmp.2024.104899 -
The Journal of Molecular Diagnostics :... Jan 2023
Topics: Humans; Pathology, Molecular
PubMed: 36517203
DOI: 10.1016/j.jmoldx.2022.11.001 -
The Journal of Molecular Diagnostics :... Nov 2014
On to the next phase of molecular diagnostics-the ultimate laboratory test: in observance of the 20th anniversary of the annual meeting of the association for molecular pathology.
Topics: Pathology, Molecular
PubMed: 25307755
DOI: 10.1016/j.jmoldx.2014.06.010 -
Clinics in Laboratory Medicine Dec 2022
Topics: Humans; Precision Medicine; Pathology, Molecular; Neoplasms
PubMed: 36368791
DOI: 10.1016/j.cll.2022.09.019 -
Archives of Pathology & Laboratory... Jun 2017
The Next Generation of Molecular Pathology is Here: Validation of Next-Generation Sequencing Technology for Clinical Molecular Testing Across Multiple Different Disciplines.
Topics: Genetic Testing; Genomics; High-Throughput Nucleotide Sequencing; Humans; Neoplasms; Pathology, Molecular
PubMed: 28557596
DOI: 10.5858/arpa.2017-0042-ED -
Zhonghua Bing Li Xue Za Zhi = Chinese... Jul 2021
Topics: Humans; Pathology, Molecular; Suggestion
PubMed: 34405601
DOI: 10.3760/cma.j.cn112151-20210308-00193 -
Ceskoslovenska Patologie Jun 2013Polymerase chain reaction (PCR) is a technology used for quick and easy amplifying DNA sequences, which is based on the principle of enzymatic replication of the nucleic... (Review)
Review
Polymerase chain reaction (PCR) is a technology used for quick and easy amplifying DNA sequences, which is based on the principle of enzymatic replication of the nucleic acids. This method has in the field of molecular biology an irreplaceable role and constitutes one of the basic methods for DNA analysis. In the following article we describe the basic principles of PCR, and its importance especially in the field of pathology.
Topics: Animals; DNA; Humans; Pathology, Molecular; Polymerase Chain Reaction
PubMed: 23964908
DOI: No ID Found