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Nature Reviews. Nephrology Dec 2023Primary aldosteronism is the most common single cause of hypertension and is potentially curable when only one adrenal gland is the culprit. The importance of primary... (Review)
Review
Primary aldosteronism is the most common single cause of hypertension and is potentially curable when only one adrenal gland is the culprit. The importance of primary aldosteronism to public health derives from its high prevalence but huge under-diagnosis (estimated to be <1% of all affected individuals), despite the consequences of poor blood pressure control by conventional therapy and enhanced cardiovascular risk. This state of affairs is attributable to the fact that the tools used for diagnosis or treatment are still those that originated in the 1970-1990s. Conversely, molecular discoveries have transformed our understanding of adrenal physiology and pathology. Many molecules and processes associated with constant adrenocortical renewal and interzonal metamorphosis also feature in aldosterone-producing adenomas and aldosterone-producing micronodules. The adrenal gland has one of the most significant rates of non-silent somatic mutations, with frequent selection of those driving autonomous aldosterone production, and distinct clinical presentations and outcomes for most genotypes. The disappearance of aldosterone synthesis and cells from most of the adult human zona glomerulosa is the likely driver of the mutational success that causes aldosterone-producing adenomas, but insights into the pathways that lead to constitutive aldosterone production and cell survival may open up opportunities for novel therapies.
Topics: Adult; Humans; Aldosterone; Hyperaldosteronism; Public Health; Molecular Medicine; Adenoma
PubMed: 37612380
DOI: 10.1038/s41581-023-00753-6 -
Seminars in Diagnostic Pathology Sep 2019Molecular diagnostic techniques are part of the ancillary arsenal of anatomic pathologists. Advances in technology and knowledge regarding disease pathogenesis,... (Review)
Review
Molecular diagnostic techniques are part of the ancillary arsenal of anatomic pathologists. Advances in technology and knowledge regarding disease pathogenesis, tumorigenesis, and immune function contribute to the development of these assays. However, each technique, if applied incorrectly or in ignorance, can lead to difficulties in execution or errors in interpretation. In this review of commonly used molecular diagnostic tests, including immunohistochemistry, microsatellite instability testing, chromosomal microarray testing, and conventional and next-generation sequencing, the emphasis will be on potential pitfalls and considerations for each platform. Emerging technologies that may be used in clinical applications in the near future will also be discussed. An understanding of the methodologies, advantages, and drawbacks of molecular assays will help pathologists aid in diagnostic and therapeutic decisions.
Topics: Humans; Molecular Diagnostic Techniques; Pathology, Molecular
PubMed: 31182318
DOI: 10.1053/j.semdp.2019.06.002 -
Annual Review of Genomics and Human... Aug 2022Molecular diagnostic tests enable rapid analysis of genomic and proteomic markers. These tests are subject to diverging premarket access and postmarket surveillance... (Review)
Review
Molecular diagnostic tests enable rapid analysis of genomic and proteomic markers. These tests are subject to diverging premarket access and postmarket surveillance requirements and mechanisms in the United States and the European Union. Each of these jurisdictions has its own challenges in keeping the regulations up to date with technological developments. A specific area of attention is that of laboratory-developed tests in the United States and health institution in-house-produced tests in the European Union, for which the United States and the European Union have markedly different regulatory approaches. Both jurisdictions have specific but differing requirements for the use of test samples and test-related data under their rules regarding the protection of (personal) health data, which can cause complexity when moving samples or sample-related data from one jurisdiction to the other.
Topics: European Union; Humans; Pathology, Molecular; Proteomics; United States; United States Food and Drug Administration
PubMed: 36044907
DOI: 10.1146/annurev-genom-121521-010416 -
Genes, Chromosomes & Cancer Jun 2022Sarcomas are cancers of mesenchymal origin with the potential to arise in diverse anatomic locations. With over 80 subtypes, which often demonstrate overlapping... (Review)
Review
Sarcomas are cancers of mesenchymal origin with the potential to arise in diverse anatomic locations. With over 80 subtypes, which often demonstrate overlapping morphologies, sarcomas frequently require ancillary testing to enable accurate classification. Pathognomonic driver mutations can often be leveraged for diagnostic purposes and include fusion genes, amplification events, and recurrent point mutations. Until relatively recently, the major clinical molecular diagnostic tests have been karyotyping, fluorescence in situ hybridization, and polymerase chain reaction; however, these techniques have a number of limitations. Recent technological advances have led to the development of more comprehensive assays with higher throughput, thereby replacing the need for a suite of single gene tests. These approaches include next-generation sequencing, fluorescent bar code hybridization, and DNA methylation profiling, among others. Herein, we review the application of recently developed techniques relevant to the diagnosis of sarcomas, and emerging assays with the potential for future development and clinical implementation.
Topics: High-Throughput Nucleotide Sequencing; Humans; In Situ Hybridization, Fluorescence; Pathology, Molecular; Sarcoma; Soft Tissue Neoplasms
PubMed: 35064596
DOI: 10.1002/gcc.23025 -
American Journal of Transplantation :... Apr 2022
Topics: Allografts; Bronchiolitis Obliterans; Graft Rejection; Humans; Lung; Lung Transplantation; Pathology, Molecular
PubMed: 34910363
DOI: 10.1111/ajt.16925 -
Clinical and Translational Medicine Jan 2021
Topics: Humans; Molecular Medicine; Precision Medicine; Translational Research, Biomedical
PubMed: 33463066
DOI: 10.1002/ctm2.294 -
Frontiers in Public Health 2023
Topics: Humans; Adolescent; Molecular Epidemiology; Neoplasms
PubMed: 37026123
DOI: 10.3389/fpubh.2023.1177707 -
Surgical Pathology Clinics Sep 2021Lymphoid malignancies are a broad and heterogeneous group of neoplasms. In the past decade, the genetic landscape of these tumors has been explored and cataloged in fine... (Review)
Review
Lymphoid malignancies are a broad and heterogeneous group of neoplasms. In the past decade, the genetic landscape of these tumors has been explored and cataloged in fine detail offering a glimpse into the mechanisms of lymphomagenesis and new opportunities to translate these findings into patient management. A myriad of studies have demonstrated both distinctive and overlapping molecular and chromosomal abnormalities that have influenced the diagnosis and classification of lymphoma, disease prognosis, and treatment selection.
Topics: Chromosome Aberrations; Humans; Lymphoma; Pathology, Molecular
PubMed: 34373101
DOI: 10.1016/j.path.2021.06.001 -
International Journal of Molecular... Jul 2023After Rudolf Virchow's pioneering works, technological advances boosted the scientific interest in this research field, which nowadays is still far from extinguished...
After Rudolf Virchow's pioneering works, technological advances boosted the scientific interest in this research field, which nowadays is still far from extinguished [...].
Topics: History, 19th Century; Molecular Medicine
PubMed: 37511502
DOI: 10.3390/ijms241411743 -
Frontiers in Cellular and Infection... 2023
Topics: Pathology, Molecular; Fungi; Basidiomycota; Oomycetes
PubMed: 37886668
DOI: 10.3389/fcimb.2023.1305306