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Concurrent RB1 and P53 pathway disruption predisposes to the development of a primitive neuronal component in high-grade gliomas depending on MYC-driven EBF3 transcription.
Acta Neuropathol
January 2025
Pathology Unit, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
The foremost feature of glioblastoma (GBM), the most frequent malignant brain tumours in adults, is a remarkable degree of intra- and inter-tumour heterogeneity reflecting the coexistence within the tumour bulk of different cell populations displaying distinctive genetic and transcriptomic profiles. GBM with primitive neuronal component (PNC), recently identified by DNA methylation-based classification as a peculiar GBM subtype (GBM-PNC), is a poorly recognized and aggressive GBM variant characterised by nodules containing cells with primitive neuronal differentiation along with conventional GBM areas. In addition, the presence of a PNC component has been also reported in IDH-mutant high-grade gliomas (HGGs), and to a lesser extent to other HGGs, suggesting that regardless from being IDH-mutant or IDH-wildtype, peculiar genetic and/or epigenetic events may contribute to the phenotypic skewing with the emergence of the PNC phenotype.
View Article and Find Full Text PDFUtilization of flat-panel detector computed tomography for evaluation of COVID-19 pneumonia during neurointerventional procedures.
Tuberk Toraks
December 2024
Department of Neurosurgery, Yale University Faculty of Medicine, New Haven, United States.
Introduction: This study aimed to evaluate the imaging findings of the chest flat panel detector computed tomography (FDCT) among coronavirus disease-2019 (COVID-19) positive patients during urgent/emergent interventional neuroradiologic procedures.
Materials And Methods: Chest FDCT examinations were performed using a C-arm mounted FDCT within the interventional radiology (IR) suite if the reverse transcription polymerase chain reaction (RT-PCR) results were pending in patients with clinical findings suggestive of COVID-19. In those who already had positive RT-PCR results, FDCT was performed for acute evaluation only if an acute unexpected cardiopulmonary event occurred during the procedure.
Expression of Wnt signaling proteins LEF1, β-catenin, GSK3β, DVL1, and N-myc varies across retinoblastoma subtypes and pRb phosphorylation status.
Sci Rep
December 2024
Department of Biology, School of Medicine, University of Zagreb, Salata 3, 10000, Zagreb, Croatia.
Retinoblastoma, a rare childhood eye cancer, has hereditary and non-hereditary forms. While TNM classification helps in prognosis, understanding molecular mechanisms is vital for the clinical behavior of retinoblastoma prediction. Our study aimed to analyze the expression levels of key Wnt pathway proteins, GSK3β, LEF1, β-catenin, and DVL1, and associate them to non-phosphorylated active form (pRb) and the phosphorylated inactive form (ppRb) and N-myc expression, in retinoblastoma cells and healthy retinal cells, in order to elucidate their roles in retinoblastoma and identify potential targets that could help to improve diagnostic and therapy.
View Article and Find Full Text PDFRetinoblastoma in Ethiopian Children: Imaging Findings and Staging.
Ethiop J Health Sci
October 2024
Radiologists, Addis Ababa University, College of Health Sciences, Medical Faculty, Department of Radiology, Addis Ababa, Ethiopia.
Background: Retinoblastoma is the most prevalent intraocular retinal malignancy in children worldwide. Accurate staging is critical for treatment planning and relies heavily on radiologic imaging and clinical findings. This study aims to evaluate imaging patterns and staging of retinoblastoma in children at Tikur Anbessa Specialized Hospital (TASH).
View Article and Find Full Text PDFIncidence, mortality, and global burden of retinoblastoma in 204 countries worldwide from 1990 to 2021: Data and systematic analysis from the Global Burden of Disease Study 2021.
Neoplasia
December 2024
Eye Center, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang Provincial Key Laboratory of Ophthalmology, Zhejiang Provincial Clinical Research Center for Eye Diseases, Zhejiang Provincial Engineering Institute on Eye Diseases, Hangzhou, Zhejiang, China. Electronic address:
Background: Retinoblastoma (Rb), the primary intraocular malignancy in children, poses significant risks, yet its overall burden remains inadequately assessed. This study aims to analyze global Rb trends using Global Burden of Disease, Injuries, and Risk Factors study (GBD) 2021 data.
Methods: GBD 2021 data was analyzed to assess Rb incidence, mortality, and disability-adjusted life years (DALYs) from 1990 to 2021.
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