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International Journal of Molecular... Mar 2023Molecular pathology, diagnostics and therapeutics are three closely related topics of critical importance in medical research and clinical practice [...].
Molecular pathology, diagnostics and therapeutics are three closely related topics of critical importance in medical research and clinical practice [...].
Topics: Pathology, Molecular
PubMed: 36902493
DOI: 10.3390/ijms24055063 -
The Journal of Pathology Apr 2018Over the past decade, advances in molecular biology and genomics techniques have revolutionized the diagnosis and treatment of cancer. The technological advances in... (Review)
Review
Over the past decade, advances in molecular biology and genomics techniques have revolutionized the diagnosis and treatment of cancer. The technological advances in tissue profiling have also been applied to the study of cell-free nucleic acids, an area of increasing interest for molecular pathology. Cell-free nucleic acids are released from tumour cells into the surrounding body fluids and can be assayed non-invasively. The repertoire of genomic alterations in circulating tumour DNA (ctDNA) is reflective of both primary tumours and distant metastatic sites, and ctDNA can be sampled multiple times, thereby overcoming the limitations of the analysis of single biopsies. Furthermore, ctDNA can be sampled regularly to monitor response to treatment, to define the evolution of the tumour genome, and to assess the acquisition of resistance and minimal residual disease. Recently, clinical ctDNA assays have been approved for guidance of therapy, which is an exciting first step in translating cell-free nucleic acid research tests into clinical use for oncology. In this review, we discuss the advantages of cell-free nucleic acids as analytes in different body fluids, including blood plasma, urine, and cerebrospinal fluid, and their clinical applications in solid tumours and haematological malignancies. We will also discuss practical considerations for clinical deployment, such as preanalytical factors and regulatory requirements. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Topics: Biomarkers, Tumor; Circulating Tumor DNA; Early Detection of Cancer; Genetic Predisposition to Disease; Genomics; Humans; Liquid Biopsy; Neoplasms; Pathology, Molecular; Phenotype; Predictive Value of Tests; Prognosis
PubMed: 29380875
DOI: 10.1002/path.5048 -
Clinics in Laboratory Medicine Dec 2022
Topics: Humans; Precision Medicine; Pathology, Molecular; Neoplasms
PubMed: 36368791
DOI: 10.1016/j.cll.2022.09.019 -
International Journal of Molecular... Jun 2023Hormones, especially steroids, are closely involved in the physiological functions and proliferation of various target tissues and have long been known to play a key...
Hormones, especially steroids, are closely involved in the physiological functions and proliferation of various target tissues and have long been known to play a key role in the tumorigenesis or carcinogenesis of these target tissues [...].
Topics: Humans; Pathology, Molecular; Hormones; Steroids; Neoplasms; Carcinogenesis
PubMed: 37446008
DOI: 10.3390/ijms241310830 -
The American Journal of Pathology Jul 2019The past decade has witnessed exponential growth in the generation of high-throughput human data across almost all known dimensions of biological systems. The discipline... (Review)
Review
The past decade has witnessed exponential growth in the generation of high-throughput human data across almost all known dimensions of biological systems. The discipline of network medicine has rapidly evolved in parallel, providing an unbiased, comprehensive biological framework through which to interrogate and integrate systematically these large-scale, multi-omic data to enhance our understanding of disease mechanisms and to design drugs that reflect a deep knowledge of molecular pathobiology. In this review, we discuss the key principles of network medicine and the human disease network and explore the latest applications of network medicine in this multi-omic era. We also highlight the current conceptual and technological challenges, which serve as exciting opportunities by which to improve and expand the network-based applications beyond the artificial boundaries of the current state of human pathobiology.
Topics: Humans; Pathology, Clinical; Pathology, Molecular
PubMed: 31014954
DOI: 10.1016/j.ajpath.2019.03.009 -
The American Journal of Surgical... Dec 2016The Surveillance, Epidemiology, and End Results (SEER) program of the National Cancer Institute collects data on cancer diagnoses, treatment, and survival for... (Review)
Review
The Surveillance, Epidemiology, and End Results (SEER) program of the National Cancer Institute collects data on cancer diagnoses, treatment, and survival for approximately 30% of the United States (US) population. To reflect advances in research and oncology practice, approaches to cancer control are evolving from simply enumerating the development of cancers by organ site in populations to including monitoring of cancer occurrence by histopathologic and molecular subtype, as defined by driver mutations and other alterations. SEER is an important population-based resource for understanding the implications of pathology diagnoses across demographic groups, geographic regions, and time and provides unique insights into the practice of oncology in the US that are not attainable from other sources. It provides incidence, survival, and mortality data for histopathologic cancer subtypes, and data by molecular subtyping are expanding. The program is developing systems to capture additional biomarker data, results from special populations, and expand biospecimen banking to enable cutting-edge cancer research and oncology practice. Pathology has always been central and critical to the effectiveness of SEER, and strengthening this relationship in this modern era of cancer diagnosis could be mutually beneficial. Achieving this goal requires close interactions between pathologists and the SEER program. This review provides a brief overview of SEER, focuses on facets relevant to pathology practice and research, and highlights the opportunities and challenges for pathologists to benefit from and enhance the value of SEER data.
Topics: Biomarkers, Tumor; Humans; Interdisciplinary Communication; Medical Oncology; Neoplasms; Pathology, Clinical; Pathology, Molecular; SEER Program; United States
PubMed: 27740970
DOI: 10.1097/PAS.0000000000000749 -
Archives of Pathology & Laboratory... Aug 2022Next-generation sequencing studies are increasingly used in the evaluation of suspected chronic myeloid neoplasms (CMNs), but there is wide variability among...
CONTEXT.—
Next-generation sequencing studies are increasingly used in the evaluation of suspected chronic myeloid neoplasms (CMNs), but there is wide variability among laboratories in the genes analyzed for this purpose. Recently, the Association for Molecular Pathology CMN working group recommended a core 34-gene set as a minimum target list for evaluation of CMNs. This list was recommended based on literature review, and its diagnostic yield in clinical practice is unknown.
OBJECTIVE.—
To determine the diagnostic yield of the core 34 genes and assess the potential impact of including selected additional genes.
DESIGN.—
We retrospectively reviewed 185 patients with known or suspected CMNs tested using a 62-gene next-generation sequencing panel that included all 34 core genes.
RESULTS.—
The Association for Molecular Pathology's core 34 genes had a diagnostic yield of 158 of 185 (85.4%) to detect at least 1 variant with strong/potential clinical significance and 107 of 185 (57.8%) to detect at least 2 such variants. The 62-gene panel had a diagnostic yield of 160 of 185 (86.5%) and 112 of 185 (60.5%), respectively. Variants of unknown significance were identified in 49 of 185 (26.5%) using the core 34 genes versus 76 of 185 (41.1%) using the 62-gene panel.
CONCLUSIONS.—
This study demonstrates that the Association for Molecular Pathology-recommended core 34-gene set has a high diagnostic yield in CMNs. Inclusion of selected additional genes slightly increases the rate of abnormal results, while also increasing the detection of variants of unknown significance. We recommend inclusion of CUX1, DDX41, ETNK1, RIT1, and SUZ12 in addition to the Association for Molecular Pathology's 34-gene core set for routine evaluation of CMNs.
Topics: High-Throughput Nucleotide Sequencing; Humans; Mutation; Myeloproliferative Disorders; Pathology, Molecular; Retrospective Studies
PubMed: 34784413
DOI: 10.5858/arpa.2021-0124-OA -
Frontiers in Cellular and Infection... 2023
Topics: Pathology, Molecular; Fungi; Basidiomycota; Oomycetes
PubMed: 37886668
DOI: 10.3389/fcimb.2023.1305306 -
Pathobiology : Journal of... 2019The updated 2016 WHO classification of hematopoietic tumors has a new category: "myeloid neoplasms with germline predisposition." These entities are rare, but are also... (Review)
Review
The updated 2016 WHO classification of hematopoietic tumors has a new category: "myeloid neoplasms with germline predisposition." These entities are rare, but are also currently underdiagnosed and underreported. Recognition is critical for appropriate clinical evaluation and therapy, with potential implications for the patient's entire family. The WHO includes 3 categories of myeloid neoplasms with germline predisposition: neoplasms without preexisting conditions, neoplasms with a history of thrombocytopenia, and neoplasms with other organ dysfunction. Specialized molecular testing is frequently necessary to make the diagnosis, as the presence of one of the implicated mutations is not sufficient for diagnosis and should be confirmed with germline DNA evaluation. Many families have unique mutations that are not detected by targeted sequencing panels. Periodic bone marrow (BM) examinations are recommended to assess patients' baseline morphology and rule out evidence of disease progression. Thus, accurate diagnosis requires a careful recording of clinical history, a BM morphology evaluation, and advanced molecular testing.
Topics: Bone Marrow Examination; Genetic Predisposition to Disease; Genotype; Germ-Line Mutation; Humans; Mutation; Myeloproliferative Disorders; Pathology, Molecular
PubMed: 30048985
DOI: 10.1159/000490311 -
International Journal of Molecular... Mar 2024Glioblastoma multiforme (GBM) is the most common and malignant type of primary brain tumor in adults. Despite important advances in understanding the molecular... (Review)
Review
Glioblastoma multiforme (GBM) is the most common and malignant type of primary brain tumor in adults. Despite important advances in understanding the molecular pathogenesis and biology of this tumor in the past decade, the prognosis for GBM patients remains poor. GBM is characterized by aggressive biological behavior and high degrees of inter-tumor and intra-tumor heterogeneity. Increased understanding of the molecular and cellular heterogeneity of GBM may not only help more accurately define specific subgroups for precise diagnosis but also lay the groundwork for the successful implementation of targeted therapy. Herein, we systematically review the key achievements in the understanding of GBM molecular pathogenesis, mechanisms, and biomarkers in the past decade. We discuss the advances in the molecular pathology of GBM, including genetics, epigenetics, transcriptomics, and signaling pathways. We also review the molecular biomarkers that have potential clinical roles. Finally, new strategies, current challenges, and future directions for discovering new biomarkers and therapeutic targets for GBM will be discussed.
Topics: Humans; Glioblastoma; Pathology, Molecular; Brain Neoplasms; Biomarkers; Gene Expression Profiling; Biomarkers, Tumor
PubMed: 38474286
DOI: 10.3390/ijms25053040