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Journal of the Chinese Medical... Mar 2023
Topics: Prognosis; Pathology, Molecular; Risk Factors; Biomarkers, Tumor
PubMed: 36728438
DOI: 10.1097/JCMA.0000000000000872 -
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 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Jan 2022With the technological progresses and applications of human genome sequencing, bioinformatics analysis and data mining, and molecular pathology and artificial...
With the technological progresses and applications of human genome sequencing, bioinformatics analysis and data mining, and molecular pathology and artificial intelligence-assisted pathological diagnosis, the development of clinical medicine is moving towards the era of precision diagnosis and treatment. In the context of this era, the traditional diagnostic pathology is facing unprecedented opportunities and challenges in our history and is striving towards the "next-generation diagnostic pathology" (NGDP). NGDP is based on histomorphology and clinical data, and characterized by the combination of molecular detection and bioinformatics analysis, intelligent sampling and process quality control, intelligent diagnosis and remote consultation, lesion visualization and "non-invasive" pathology as well as other innovative cutting edge interdisciplinary technologies. The NGDP reports will include the results from multi-omics and cross-scale integrated diagnosis for final diagnosis. NGDP will also be applied for predicting disease progression and outcomes, and determining optional therapeutics as well as assessing treatment responses, so that a novel "golden standard" of disease diagnosis can be established. In the near fature, it is necessary to stimulate the innovative vitality of pathology disciplines, accelerate the maturity and application for NGDP, update the theory and technical system of pathology, and perform its important applicable role in the prevention, diagnosis, treatment of diseases so that the futher development of clinical medicine will be promoted and the strategy for maintenance of being healthy in China will be served.
Topics: Artificial Intelligence; China; Computational Biology; Humans; Pathology, Molecular
PubMed: 34979745
DOI: 10.3760/cma.j.cn112151-20211005-00726 -
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 -
Surgical Pathology Clinics Sep 2021Molecular profiling studies have shed new light on the complex biology of prostate cancer. Genomic studies have highlighted that structural rearrangements are among the... (Review)
Review
Molecular profiling studies have shed new light on the complex biology of prostate cancer. Genomic studies have highlighted that structural rearrangements are among the most common recurrent alterations. In addition, both germline and somatic mutations in DNA repair genes are enriched in patients with advanced disease. Primary prostate cancer has long been known to be multifocal, but recent studies demonstrate that a large fraction of prostate cancer shows evidence of multiclonality, suggesting that genetically distinct, independently arising tumor clones coexist. Metastatic prostate cancer shows a high level of morphologic and molecular diversity, which is associated with resistance to systemic therapies. The resulting high level of intratumoral heterogeneity has important implications for diagnosis and poses major challenges for the implementation of molecular studies. Here we provide a concise review of the molecular pathology of prostate cancer, highlight clinically relevant alterations, and discuss opportunities for molecular testing.
Topics: Genomics; Humans; Male; Pathology, Molecular; Prostatic Neoplasms
PubMed: 34373091
DOI: 10.1016/j.path.2021.05.004 -
Surgical Pathology Clinics Sep 2021Upper gastroesophageal carcinomas consist of cancers arising from the esophagus and stomach. Squamous cell carcinomas and adenocarcinomas are seen in the esophagus and... (Review)
Review
Upper gastroesophageal carcinomas consist of cancers arising from the esophagus and stomach. Squamous cell carcinomas and adenocarcinomas are seen in the esophagus and despite arising from the same organ have different biology. Gastric adenocarcinomas are categorized into 4 molecular subtypes: high Epstein-Barr virus load, microsatellite unstable cancers, chromosomal unstable (CIN) cancers, and genomically stable cancers. Genomically stable gastric cancers correlate highly with histologically defined diffuse-type cancers. Esophageal carcinomas and CIN gastric cancers often are driven by high-level amplifications of oncogenes and contain a high degree of intratumoral heterogeneity. Targeted therapeutics is an active area of research for gastroesophageal cancers.
Topics: Epstein-Barr Virus Infections; Herpesvirus 4, Human; Humans; Immunohistochemistry; Pathology, Molecular; Stomach Neoplasms
PubMed: 34373095
DOI: 10.1016/j.path.2021.05.008 -
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