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Genes Dec 2023Since the introduction of new molecular techniques, the diagnostic landscape of soft tissue and bone tumors has expanded greatly over the past few years. The use of new... (Review)
Review
Since the introduction of new molecular techniques, the diagnostic landscape of soft tissue and bone tumors has expanded greatly over the past few years. The use of new molecular techniques has led to the identification of new genetic alterations and, therefore, to a better understanding of tumorigenesis, tumor detection and classification. Furthermore, methylation profiling has emerged as a classification tool for soft tissue and bone tumors. Molecular pathology also plays an important role in the determination of patient prognosis and in the identification of targets that can be used for targeted therapy. As a result, molecular pathology has gained a more prominent role in the daily practice of the surgical pathologist. This review delves into various molecular techniques applied in the surgical pathology of soft tissue and bone tumors. It highlights their applications through the analysis of five specific cases.
Topics: Humans; Soft Tissue Neoplasms; Mutation; Bone Neoplasms; Prognosis; Pathology, Molecular
PubMed: 38137051
DOI: 10.3390/genes14122229 -
Biomarkers in Medicine Mar 2020
Topics: Biomarkers, Tumor; Humans; Lung Neoplasms; Neoplasm Staging; Pathology, Molecular; Prognosis
PubMed: 32125183
DOI: 10.2217/bmm-2019-0490 -
Pathology International Dec 2020The year 2019 was considered to be the first year of cancer genome medicine in Japan, with three gene-panel tests using next-generation sequencing (NGS) techniques being... (Review)
Review
The year 2019 was considered to be the first year of cancer genome medicine in Japan, with three gene-panel tests using next-generation sequencing (NGS) techniques being introduced into clinical practice. Among the three tests, the Oncomine CDx Target test was approved under the category of regular molecular testing for lung cancer, which meant that this test could be used to select patients for molecularly targeted drugs. Conversely, the other two tests, NCC OncoPanel and FoundationOne CDx, were assigned to be used under the National Cancer Genome Medicine Network, and implementation was restricted to patients for whom standard treatment was completed or expected to be completed. These NGS tests can detect a series of genetic alterations in individual tumors, which further promotes the development of therapeutic agents and elucidates molecular pathways. The NGS tests require appropriate tissue size and tumor cell content, which can be accessed only by pathologists. In this report, we review the current reimbursement schema in our national healthcare policy and the requirements of the specimens for NGS testing based on the recently published 'Guidance of Gene-panel Testing Using Next-Generation Sequencers for Lung Cancer', by the Japanese Society of Lung Cancer.
Topics: DNA, Neoplasm; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Lung Neoplasms; Mutation; Pathology, Molecular
PubMed: 32956529
DOI: 10.1111/pin.13023 -
Pathology Dec 2021Traditionally, cancer diagnosis and management has been reactionary in that symptoms lead to investigations, then a diagnosis is followed by clinical management. This... (Review)
Review
Traditionally, cancer diagnosis and management has been reactionary in that symptoms lead to investigations, then a diagnosis is followed by clinical management. This process is heavily dependent on tissue diagnosis mainly by histopathology and to a lesser extent, cytopathology. However, in recent times there has been a shift towards precision medicine to enable prevention, prediction and personalisation in healthcare. The core of precision medicine is optimising therapeutic benefit for patients, by using genomic and molecular profiling, analogously termed precision pathology. This review explores (1) the evolution of pathology from a para-clinical discipline to a mainstream medical field integral to oncology tumour boards; (2) its critical role in preventative, diagnostic, therapeutic and follow-up cancer care; (3) the future of tissue pathology in the era of precision oncology; and (4) how pathologists may evolve to future-proof their profession.
Topics: Genomics; High-Throughput Nucleotide Sequencing; Humans; Immunotherapy; Medical Oncology; Molecular Targeted Therapy; Neoplasms; Pathologists; Pathology, Molecular; Precision Medicine; Sequence Analysis, DNA
PubMed: 34635323
DOI: 10.1016/j.pathol.2021.08.003 -
International Journal of Molecular... Apr 2023Cutaneous squamous cell carcinoma (cSCC) is the second most common skin cancer, originating from keratinocytes of the spinous layer. Numerous risk factors have been... (Review)
Review
Cutaneous squamous cell carcinoma (cSCC) is the second most common skin cancer, originating from keratinocytes of the spinous layer. Numerous risk factors have been discovered for the initiation and growth of this type of cancer, such as exposure to UV and ionizing radiation, chemical carcinogens, the presence of immunosuppression states, chronic inflammation, infections with high-risk viral strains, and, last but not least, the presence of diseases associated with genetic alterations. The important socio-economic impact, as well as the difficulty associated with therapy for advanced forms, has made the molecular mechanisms underlying this neoplasia more and more intensively studied, with the intention of achieving a better understanding and advancing the treatment of this pathology. This review aims to provide a brief foray into the molecular, genetic, and epigenetic aspects of this cancer, as well as the treatment methods, ranging from the first used to the latest targeted therapies.
Topics: Humans; Carcinoma, Squamous Cell; Skin Neoplasms; Pathology, Molecular; Keratinocytes; Immunosuppression Therapy
PubMed: 37047618
DOI: 10.3390/ijms24076646 -
American Journal of Clinical Pathology Jul 2022To overcome the challenges associated with molecular and cytogenetic (MG) education in hematopathology (HP), a monthly joint HP/MG conference with specific curricular...
OBJECTIVES
To overcome the challenges associated with molecular and cytogenetic (MG) education in hematopathology (HP), a monthly joint HP/MG conference with specific curricular goals was established and evaluated by the participants.
METHODS
All cases from the HP/MG conference over 56 months were reviewed. To assess the educational impact, a survey was distributed to current/former HP/molecular genetic pathology fellows and faculty.
RESULTS
During the study period, a total of 252 cases covering MG testing considered important for HP fellowship training were presented. The 100 most recent cases since 2018 discussed findings of diagnostic (85%), prognostic (40%), or therapeutic (10%) importance. A broad range of technologies were discussed such as karyotyping, cytogenetic fluorescence in situ hybridization studies, microarrays, polymerase chain reaction-based tests, next-generation sequencing, and Sanger sequencing. Twenty-three (95.8%) of 24 survey respondents agreed that the conference achieved all of its goals, and all agreed it was worth implementing.
CONCLUSIONS
This educationally based HP/MG conference supplements existing rotations, didactic presentations, and consensus case conferences and enhances MG education in HP without excessive time commitment or need for extensive in-house MG testing. It also contributes to enhancing HP knowledge among the MG faculty and fellows.
Topics: Curriculum; Education, Medical, Graduate; Fellowships and Scholarships; Humans; In Situ Hybridization, Fluorescence; Pathology, Molecular
PubMed: 35142790
DOI: 10.1093/ajcp/aqac011 -
The Journal of Molecular Diagnostics :... Jan 2023
Topics: Humans; Pathology, Molecular
PubMed: 36517203
DOI: 10.1016/j.jmoldx.2022.11.001 -
The Journal of Pathology. Clinical... May 2021The SPIRIT (Standard Protocol Items: Recommendations for Interventional Trials) 2013 Statement was developed to provide guidance for inclusion of key methodological... (Meta-Analysis)
Meta-Analysis
The SPIRIT (Standard Protocol Items: Recommendations for Interventional Trials) 2013 Statement was developed to provide guidance for inclusion of key methodological components in clinical trial protocols. However, these standards do not include guidance specific to pathology input in clinical trials. This systematic review aims to synthesise existing recommendations specific to pathology practice in clinical trials for implementation in trial protocol design. Articles were identified from database searches and deemed eligible for inclusion if they contained: (1) guidance and/or a checklist, which was (2) pathology-related, with (3) content relevant to clinical trial protocols or could influence a clinical trial protocol design from a pathology perspective and (4) were published in 1996 or later. The quality of individual papers was assessed using the AGREE-GRS (Appraisal of Guidelines for REsearch & Evaluation - Global Rating Scale) tool, and the confidence in cumulative evidence was evaluated using the GRADE-CERQual (Grading of Recommendations Assessment, Development and Evaluation-Confidence in Evidence from Reviews of Qualitative research) approach. Extracted recommendations were synthesised using the best fit framework method, which includes thematic analysis followed by a meta-aggregative approach to synthesis within the framework. Of the 10 184 records screened and 199 full-text articles reviewed, only 40 guidance resources met the eligibility criteria for inclusion. Recommendations extracted from 22 guidance documents were generalisable enough for data synthesis. Seven recommendation statements were synthesised as follows: (1) multidisciplinary collaboration in trial design with early involvement of pathologists, particularly with respect to the use of biospecimens and associated biomarker/analytical assays and in the evaluation of pathology-related parameters; (2) funding and training for personnel undertaking trial work; (3) selection of an accredited laboratory with suitable facilities to undertake scheduled work; (4) quality assurance of pathology-related parameters; (5) transparent reporting of pathology-related parameters; (6) policies regarding informatics and tracking biospecimens across trial sites; and (7) informed consent for specimen collection and retention for future research.
Topics: Biomarkers; Biopsy; Clinical Trials as Topic; Humans; Pathology, Clinical; Pathology, Molecular; Practice Guidelines as Topic; Predictive Value of Tests; Research Design; Treatment Outcome
PubMed: 33635586
DOI: 10.1002/cjp2.199 -
The Journal of Pathology Apr 2020Brain tumours are the most common tumour-related cause of death in young people. Survivors are at risk of significant disability, at least in part related to the effects... (Review)
Review
Brain tumours are the most common tumour-related cause of death in young people. Survivors are at risk of significant disability, at least in part related to the effects of treatment. Therefore, there is a need for a precise diagnosis that stratifies patients for the most suitable treatment, matched to the underlying biology of their tumour. Although traditional histopathology has been accurate in predicting treatment responses in many cases, molecular profiling has revealed a remarkable, previously unappreciated, level of biological complexity in the classification of these tumours. Among different molecular technologies, DNA methylation profiling has had the most pronounced impact on brain tumour classification. Furthermore, using machine learning-based algorithms, DNA methylation profiling is changing diagnostic practice. This can be regarded as an exemplar for how molecular pathology can influence diagnostic practice and illustrates some of the unanticipated benefits and risks. © 2020 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Topics: Algorithms; Biomarkers, Tumor; Central Nervous System Neoplasms; DNA Methylation; Gene Expression Regulation, Neoplastic; Humans; Pathology, Molecular
PubMed: 32057098
DOI: 10.1002/path.5397 -
Pathologie (Heidelberg, Germany) Mar 2024With the advancements in precision medicine, the demands on pathological diagnostics have increased, requiring standardized, quantitative, and integrated assessments of... (Review)
Review
With the advancements in precision medicine, the demands on pathological diagnostics have increased, requiring standardized, quantitative, and integrated assessments of histomorphological and molecular pathological data. Great hopes are placed in artificial intelligence (AI) methods, which have demonstrated the ability to analyze complex clinical, histological, and molecular data for disease classification, biomarker quantification, and prognosis estimation. This paper provides an overview of the latest developments in pathology AI, discusses the limitations, particularly concerning the black box character of AI, and describes solutions to make decision processes more transparent using methods of so-called explainable AI (XAI).
Topics: Artificial Intelligence; Pathology, Molecular; Hope; Precision Medicine
PubMed: 38315198
DOI: 10.1007/s00292-024-01308-7