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International Journal of Molecular... Dec 2022Years of standing still have ended, and the field of nephrology has seen a plethora of clinical trials, changing the therapeutic landscape of chronic kidney disease...
Years of standing still have ended, and the field of nephrology has seen a plethora of clinical trials, changing the therapeutic landscape of chronic kidney disease (CKD) and immune-mediated kidney disease management [...].
Topics: Humans; Pathology, Molecular; Kidney; Renal Insufficiency, Chronic; Nephrology
PubMed: 36555648
DOI: 10.3390/ijms232416006 -
Genetics in Medicine : Official Journal... Dec 2018
Topics: Adenosine Monophosphate; Consensus; Genetics, Medical; Genomics; Pathology, Molecular; United States
PubMed: 29543229
DOI: 10.1038/gim.2018.42 -
American Journal of Respiratory and... Jun 2022Pulmonary arterial hypertension (PAH) is characterized by structural remodeling of pulmonary arteries and arterioles. Underlying biological processes are likely...
Pulmonary arterial hypertension (PAH) is characterized by structural remodeling of pulmonary arteries and arterioles. Underlying biological processes are likely reflected in a perturbation of circulating proteins. To quantify and analyze the plasma proteome of patients with PAH using inherited genetic variation to inform on underlying molecular drivers. An aptamer-based assay was used to measure plasma proteins in 357 patients with idiopathic or heritable PAH, 103 healthy volunteers, and 23 relatives of patients with PAH. In discovery and replication subgroups, the plasma proteomes of PAH and healthy individuals were compared, and the relationship to transplantation-free survival in PAH was determined. To examine causal relationships to PAH, protein quantitative trait loci (pQTL) that influenced protein levels in the patient population were used as instruments for Mendelian randomization (MR) analysis. From 4,152 annotated plasma proteins, levels of 208 differed between patients with PAH and healthy subjects, and 49 predicted long-term survival. MR based on -pQTL located in proximity to the encoding gene for proteins that were prognostic and distinguished PAH from health estimated an adverse effect for higher levels of netrin-4 (odds ratio [OR], 1.55; 95% confidence interval [CI], 1.16-2.08) and a protective effect for higher levels of thrombospondin-2 (OR, 0.83; 95% CI, 0.74-0.94) on PAH. Both proteins tracked the development of PAH in previously healthy relatives and changes in thrombospondin-2 associated with pulmonary arterial pressure at disease onset. Integrated analysis of the plasma proteome and genome implicates two secreted matrix-binding proteins, netrin-4 and thrombospondin-2, in the pathobiology of PAH.
Topics: Blood Proteins; Familial Primary Pulmonary Hypertension; Humans; Hypertension, Pulmonary; Netrins; Pathology, Molecular; Proteome; Pulmonary Arterial Hypertension; Thrombospondins
PubMed: 35394406
DOI: 10.1164/rccm.202109-2106OC -
Taiwanese Journal of Obstetrics &... Nov 2023
Topics: Female; Humans; Pathology, Molecular; Endometrial Neoplasms; Endometrium; Endometrial Hyperplasia
PubMed: 38008493
DOI: 10.1016/j.tjog.2023.09.013 -
International Journal of Molecular... Jul 2022Today, the oncologist is like a detective of the human body who, instead of a magnifying glass, uses the new tools of molecular pathology to search not only for genes or...
Today, the oncologist is like a detective of the human body who, instead of a magnifying glass, uses the new tools of molecular pathology to search not only for genes or molecular targets, to be targeted with innovative anticancer therapies, but also molecular alterations that allow the identification of population groups at risk of developing tumors for preventive purposes [...].
Topics: Humans; Molecular Targeted Therapy; Neoplasms; Pathology, Molecular; Therapies, Investigational
PubMed: 35955561
DOI: 10.3390/ijms23158429 -
Archives of Pathology & Laboratory... Oct 2022The US Food and Drug Administration (FDA) approved immune checkpoint inhibitor therapy for patients with advanced solid tumors that have DNA mismatch repair defects or...
Mismatch Repair and Microsatellite Instability Testing for Immune Checkpoint Inhibitor Therapy: Guideline From the College of American Pathologists in Collaboration With the Association for Molecular Pathology and Fight Colorectal Cancer.
CONTEXT.—
The US Food and Drug Administration (FDA) approved immune checkpoint inhibitor therapy for patients with advanced solid tumors that have DNA mismatch repair defects or high levels of microsatellite instability; however, the FDA provided no guidance on which specific clinical assays should be used to determine mismatch repair status.
OBJECTIVE.—
To develop an evidence-based guideline to identify the optimal clinical laboratory test to identify defects in DNA mismatch repair in patients with solid tumor malignancies who are being considered for immune checkpoint inhibitor therapy.
DESIGN.—
The College of American Pathologists convened an expert panel to perform a systematic review of the literature and develop recommendations. Using the National Academy of Medicine-endorsed Grading of Recommendations Assessment, Development and Evaluation approach, the recommendations were derived from available evidence, strength of that evidence, open comment feedback, and expert panel consensus. Mismatch repair immunohistochemistry, microsatellite instability derived from both polymerase chain reaction and next-generation sequencing, and tumor mutation burden derived from large panel next-generation sequencing were within scope.
RESULTS.—
Six recommendations and 3 good practice statements were developed. More evidence and evidence of higher quality were identified for colorectal cancer and other cancers of the gastrointestinal (GI) tract than for cancers arising outside the GI tract.
CONCLUSIONS.—
An optimal assay depends on cancer type. For most cancer types outside of the GI tract and the endometrium, there was insufficient published evidence to recommend a specific clinical assay. Absent published evidence, immunohistochemistry is an acceptable approach readily available in most clinical laboratories.
Topics: Female; Humans; Colorectal Neoplasms; DNA Mismatch Repair; Immune Checkpoint Inhibitors; Microsatellite Instability; Pathologists; Pathology, Molecular; Systematic Reviews as Topic
PubMed: 35920830
DOI: 10.5858/arpa.2021-0632-CP -
Surgical Pathology Clinics Sep 2021Urothelial carcinoma is characterized by the presence of a wide spectrum of histopathologic features and molecular alterations that contribute to its morphologic and... (Review)
Review
Urothelial carcinoma is characterized by the presence of a wide spectrum of histopathologic features and molecular alterations that contribute to its morphologic and genomic heterogeneity. It typically harbors high rates of somatic mutations with considerable genomic and transcriptional complexity and heterogeneity that is reflective of its varied histomorphologic and clinical features. This review provides an update on the recent advances in the molecular characterization and novel molecular taxonomy of urothelial carcinoma and variant histologies.
Topics: Carcinoma, Transitional Cell; Genomics; Humans; Pathology, Molecular; Urinary Bladder Neoplasms
PubMed: 34373092
DOI: 10.1016/j.path.2021.05.005 -
Cells Dec 2021Lysosomal storage disorders (LSDs) are rare, monogenic diseases characterized by aberrant lysosomes with storage material [...].
Lysosomal storage disorders (LSDs) are rare, monogenic diseases characterized by aberrant lysosomes with storage material [...].
Topics: Animals; Autophagy; Clinical Trials as Topic; Disease Models, Animal; Enzyme Replacement Therapy; Humans; Lysosomal Storage Diseases; Organelles; Pathology, Molecular
PubMed: 35011597
DOI: 10.3390/cells11010036 -
Archives of Pathology & Laboratory... Mar 2020This special section includes 4 articles as the proceedings of the Fifth Princeton Integrated Pathology Symposium (PIPS): Genitourinary Pathology, and an update on...
This special section includes 4 articles as the proceedings of the Fifth Princeton Integrated Pathology Symposium (PIPS): Genitourinary Pathology, and an update on neuroendocrine tumor of the prostate. The symposium took place at the Princeton Medical Center, Plainsboro, New Jersey, on Sunday April 15, 2018. We hope again that this collection of outstanding reviews will serve as a handy reference for your daily practice.
Topics: Humans; Male; Pathology; Pathology, Clinical; Pathology, Molecular; Pathology, Surgical; Prostate; Prostatic Neoplasms
PubMed: 32101057
DOI: 10.5858/arpa.2019-0560-ED -
Clinics in Laboratory Medicine Jun 2022The COVID-19 pandemic remains a significant problem involving health systems worldwide. Several diagnostic methods are reported for detecting the coronavirus in... (Review)
Review
The COVID-19 pandemic remains a significant problem involving health systems worldwide. Several diagnostic methods are reported for detecting the coronavirus in clinical, research, and public health laboratories. rRT-PCR is considered the gold standard; however, as it required skilled personnel and special equipment, rapid antigen tests have been developed and used as first-line screening. The serologic testing of antibodies can also be used to enhance the detection sensitivity and accuracy, which are used to assess the overall infection rate. This review summarizes the molecular techniques and serologic assays widely used in China and discusses the advantages and disadvantages of these techniques.
Topics: COVID-19; China; Humans; Pandemics; Pathology, Molecular; SARS-CoV-2; Sensitivity and Specificity
PubMed: 35636821
DOI: 10.1016/j.cll.2022.03.003