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Mesothelioma: molecular pathology and biomarkers.
Pathologie (Heidelb)
September 2024
Harvard Medical School, Boston, MA, USA.
Diffuse mesotheliomas are characterized by recurrent genomic alterations involving tumor suppressors and epigenetic regulators such as BAP1, CDKN2A, MTAP, and NF2. Depending on the differential diagnosis as informed by histologic assessment, one can apply the appropriate immunohistochemical and/or molecular panels to reach the correct pathologic diagnosis, sometimes even in cases with limited tissues. Biomarkers aid in the diagnosis of mesothelioma in the following scenarios: 1) For a tumor that is overtly malignant, how can one distinguish mesothelioma from other tumors? 2) For a mesothelial proliferation, how can one distinguish mesothelioma from a reactive process? To distinguish mesotheliomas from carcinomas, at least two positive and two negative markers are currently recommended.
View Article and Find Full Text PDFFunctional assay for assessment of pathogenicity of BAP1 variants.
Hum Mol Genet
February 2024
Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Haartmaninkatu 8, FI-00290, Helsinki, Finland.
Background: Pathogenic germline variants in BRCA1-Associated Protein 1 (BAP1) cause BAP1 tumor predisposition syndrome (BAP1-TPDS). Carriers run especially a risk of uveal (UM) and cutaneous melanoma, malignant mesothelioma, and clear cell renal carcinoma. Approximately half of increasingly reported BAP1 variants lack accurate classification.
View Article and Find Full Text PDFPan-cancer analysis of the prognostic significance of expression and the related genetic/epigenetic dysregulations.
Expert Rev Clin Immunol
February 2024
West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, China.
Objective: ACKR2 is a scavenger for most inflammation-related CC chemokines. This study aimed to assess the pan-cancer prognostic significance of ACKR2 and the genetic and epigenetic mechanisms underlying its dysregulation.
Methods: Pan-cancer data from The Cancer Genome Atlas (TCGA), Therapeutically Applicable Research to Generate Effective Treatments (TARGET) and The Genotype-Tissue Expression (GTEx) were integrated and analyzed.
New developments in mesothelial pathology.
Histopathology
January 2024
Department of Pathology, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada.
This review article examines some new and some problem areas in mesothelial pathology, four of which are discussed, as follows. (1) The concept of mesothelioma in situ: this lesion is defined as a single layer of bland mesothelial cells without evidence of invasion, but that have lost BAP1 and/or MTAP by immunohistochemistry. Benign reactions can exactly mimic mesothelioma in situ, but a hint to the correct diagnosis is a story of recurrent pleural effusions/ascites of unknown aetiology without radiological or direct visual evidence of tumour.
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