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High p16 expression in glioblastoma is associated with senescence phenotype and better prognosis.
Neoplasia
December 2024
Department of Pathology, Ajou University School of Medicine, Suwon 16499, Republic of Korea. Electronic address:
Glioblastoma, isocitrate dehydrogenase (IDH)-wildtype (GBM), is the most malignant brain tumor in adults, with limited therapeutic intervention. Previous studies have identified a few prognostic markers for GBM, including the methylation status of O-methylguanine-DNA methyltransferase (MGMT) promoter, TERT promoter mutation, EGFR amplification, and CDKN2A/2B deletion. However, the classification of GBM remains incomplete, necessitating a comprehensive analysis.
View Article and Find Full Text PDFBRAFV600E/pTERT double mutated papillary thyroid cancers exhibit immune gene suppression.
Front Endocrinol (Lausanne)
December 2024
Division of Endocrinology, Mayo Clinic, Jacksonville, FL, United States.
Introduction: BRAFV600E mutation (BRAF) is common in papillary thyroid cancer (PTC), and most patients have an excellent outcome. However, a TERT-promoter mutation (pTERT) in the presence of BRAF (BRAFpTERT) has been demonstrated to confer a more aggressive behavior to PTC. Lymphocytic infiltration is often present in PTC.
View Article and Find Full Text PDFDiagnostic performance of Uromonitor and TERTpm ddPCR urine tests for the non-invasive detection of bladder cancer.
Sci Rep
December 2024
Department of Urology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Uromonitor and urinary telomerase reverse transcriptase promoter mutation droplet digital PCR (uTERTpm ddPCR) are non-invasive tests designed to detect bladder cancer in urine. We aimed to compare the diagnostic performance of uTERTpm ddPCR, Uromonitor and urine cytology in detecting bladder cancer. Urine samples were collected prospectively from patients diagnosed with primary (n = 74) and recurrent bladder cancer (n = 20) or benign urological conditions (n = 48) prior to surgical resection.
View Article and Find Full Text PDFIntegrating molecular analyses with the 2021 WHO classification of adult pilocytic astrocytomas.
J Neuropathol Exp Neurol
December 2024
Pathology Department, Complejo Hospitalario Universitario de Toledo, Toledo, Spain.
Pilocytic astrocytomas (PAs) are benign grade 1 gliomas according to the World Health Organization (WHO). They are common in children but rare in adults in whom they may have a worse prognosis. Pediatric PAs are usually associated with dysregulation of the mitogen-activated protein kinase (MAPK) pathway, often involving BRAF alterations such as the KIAA1549::BRAF (K-B) fusion or V600E mutation.
View Article and Find Full Text PDFMolecular profile of adult primary leptomeningeal gliomatosis aligns with glioblastoma, IDH-wildtype.
Brain Pathol
December 2024
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Adult primary leptomeningeal gliomatosis (PLG) is a rare, rapidly progressive and fatal disease characterized by prominent leptomeningeal infiltration by a glial tumor without an identifiable parenchymal mass. The molecular profile of adult PLG has not been well-characterized. We report the clinical, pathological, and molecular findings of six adult PLG patients (five males and one female), median age 58 years.
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