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http://dx.doi.org/10.1038/s41375-025-02707-2 | DOI Listing |
Neuropathology
October 2025
Pathology Department, Complejo Hospitalario Universitario de Toledo, Toledo, Spain.
Glioblastoma (GB), IDH-wildtype (IDH-wt), is the most prevalent primary malignant brain neoplasm in adults. Despite adjuvant therapy, the prognosis for these tumors remains dismal, with a median survival of around 15-18 months. Although rare, extracranial metastases from GB are reported with increasing frequency, likely due to advancements in follow-up, treatments, and improved patient survival.
View Article and Find Full Text PDFJ Autoimmun
September 2025
Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; Cellular Genomics Futures Institute & School of Biomedical Sciences, UNSW Sydney, Australia. Electronic address:
Background: In autoimmune disease it is not understood how self-reactive B cells escape immune tolerance checkpoints to produce pathogenic autoantibodies.
Objective: In patients with demyelinating polyneuropathy caused by IgM autoantibodies against myelin associated glycoprotein (MAG) and the sulphated trisaccharide CD57, we aimed to test the hypothesis that B cells making the autoantibody escaped tolerance by acquiring lymphoma driver somatic mutations.
Methods: Deep single-cell RNA, DNA, flow cytometric and antibody specificity analysis of blood from three patients with MAG neuropathy.
Unlabelled: Understanding the timing of key mutational events in cancer development is critical for informing cancer prevention and detection strategies, particularly for early-onset cases that have increased in recent years. Yet intermediate mutational events are challenging to observe in humans. Here, we extend a tumor kinetic model we recently developed and long-term cancer registries data to estimate the expected timing of intermediate mutational events for breast, colorectal, and thyroid cancers.
View Article and Find Full Text PDFDNA abnormalities characterized by cytogenetic imaging at the single cell resolution, i.e. karyotyping, have long served as cancer diagnostic and prognostic biomarkers.
View Article and Find Full Text PDFJ Pathol Clin Res
September 2025
Institute of Pathology and Neuropathology, University Hospital Tuebingen and Comprehensive Cancer Center South West, Tuebingen, Germany.
Myeloid sarcoma (MS) is a mass-forming extramedullary manifestation of myeloid blasts, either in relation to an underlying acute myeloid leukemia (AML), another myeloid neoplasm (MN) or as a de novo occurrence. Data on the genetic profile of MS are sparse. In this study, 41 MS of 34 patients, including 7 de novo cases and 24 patients with antecedent or synchronous MN, were analyzed with targeted next-generation sequencing (NGS), RNA-based fusion detection, and gene expression profiling (GEP).
View Article and Find Full Text PDF