Publications by authors named "A K Wefers"
Background And Purpose: CNS embryonal tumor with amplification (ET, PLAGL) is a newly identified, highly malignant pediatric tumor. Systematic MRI descriptions of ET, PLAGL are currently lacking.
Materials And Methods: MRI data from 19 treatment-naïve patients with confirmed ET, PLAGL were analyzed.
Article Synopsis
- - H3 K27M-altered diffuse midline gliomas (DMGs) are aggressive brain tumors that mostly have a specific mutation in the histone H3 gene and can be categorized into subgroups based on various traits like mutation types and tumor locations.
- - Researchers analyzed 149 DMGs, looking into their DNA methylation patterns and found two main subtypes: DMG-A and DMG-B, which differ in mutation profiles, tumor locations, patient age, and overall survival rates.
- - DMG-A, primarily affecting adults and often located in the medulla, showed better survival rates compared to DMG-B, which is more common in children and associated with poorer outcomes; subtype classification based on methylation patterns
Neural-tumor interactions drive glioma growth as evidenced in preclinical models, but clinical validation is limited. We present an epigenetically defined neural signature of glioblastoma that independently predicts patients' survival. We use reference signatures of neural cells to deconvolve tumor DNA and classify samples into low- or high-neural tumors.
View Article and Find Full Text PDFThe diagnosis of ependymoma has moved from a purely histopathological review with limited prognostic value to an integrated diagnosis, relying heavily on molecular information. However, as the integrated approach is still novel and some molecular ependymoma subtypes are quite rare, few studies have correlated integrated pathology and clinical outcome, often focusing on small series of single molecular types. We collected data from 2023 ependymomas as classified by DNA methylation profiling, consisting of 1736 previously published and 287 unpublished methylation profiles.
View Article and Find Full Text PDFArticle Synopsis
- Ependymomas are diverse tumors with specific types based on where they occur and their molecular characteristics, with spinal ependymomas (SP-EPN) being the most common type found in the spinal cord of both children and adults.
- Research revealed limited molecular data on SP-EPN, with known genetic changes including losses on chromosome 22q and mutations in NF2, but this study aimed to fill the gaps by analyzing transcriptomic, epigenetic, genetic, and clinical data from a large cohort.
- The study identified two subtypes of SP-EPN: subtype A, associated with known NF2 mutations and more severe disease, and subtype B, characterized by different genetic alterations and more stable NF2 expression, helping to