Brain metastases (BMs) are malignancies in the central nervous system with poor prognosis. Genetic landscapes of the primary tumor sites have been extensively profiled; however, mutations associated with BMs are poorly understood. In the present study, target exome sequencing of 560 cancer-associated genes in samples from 52 patients with brain metastasis from various primary sites was performed. Recurrent mutations for BMs from distinct origins were identified. There were both genetic homogeneity and heterogeneity between BMs and primary lung tumor tissues. The mutation rate of the major cancer driver gene, , was consistently high in both the primary lung cancer sites and BMs, while some genetic alterations, associated with DNA damage response deficiency, were specifically enriched in BMs. The mutational signatures enriched in BMs could serve as actionable targets for treatment. The mutation in the primary site of the potential brain metastasis driver gene, nuclear mitotic apparatus protein 1 (), affected the progression-free survival time of patients with lung cancer, and patients with the mutation in BMs had a good prognosis. This suggested that the occurrence and clinical outcome of brain metastases could be independent of each other.
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http://dx.doi.org/10.3892/ol.2021.12440 | DOI Listing |
Front Immunol
January 2025
Department of Neurological Care Unit, The First Affiliated Hospital of YangTze University, Jingzhou, Hubei, China.
Background: Recent years have seen persistently poor prognoses for glioma patients. Therefore, exploring the molecular subtyping of gliomas, identifying novel prognostic biomarkers, and understanding the characteristics of their immune microenvironments are crucial for improving treatment strategies and patient outcomes.
Methods: We integrated glioma datasets from multiple sources, employing Non-negative Matrix Factorization (NMF) to cluster samples and filter for differentially expressed metabolic genes.
Brain Spine
December 2024
Division of Neurosurgery, Department of Clinical Neurosciences, University Hospital of Lausanne and University of Lausanne, Lausanne, Switzerland.
Introduction: and research question: Prognostic factors to predict the behavior of pituitary neuroendocrine tumors (PitNET) are scarce. PD-L1 expression was associated with prognosis in other neuroendocrine neoplasms and we analyzed PD-L1 expression in PitNET, according to the 2022 WHO classification.
Material And Methods: A retrospective analysis was performed.
Expert Rev Mol Med
January 2025
Centre for Gene Therapy and Regenerative Medicine, King's College London, London, United Kingdom.
Background: Glioblastoma multiforme (GBM) is the most prevalent primary brain tumour, with an incidence of 2 per 100,000. The standard clinical treatments do not sufficiently target cell migration and invasion, leading to recurrence after surgical resection and resistance after chemotherapy and radiotherapy. Pre-clinical studies are being conducted to construct artificial substrates that can mimic the tumour microenvironment (TME) to prevent GBM cells from migrating along their primary route through blood vessels and white matter tracts.
View Article and Find Full Text PDFNMR Biomed
March 2025
Department of Radiology, Clínica Universidad de Navarra, Pamplona, Spain.
Hemodynamic measurements such as cerebral blood flow (CBF) and cerebrovascular reactivity (CVR) can provide useful information for the diagnosis and characterization of brain tumors. Previous work showed that arterial spin labeling (ASL) in combination with vasoactive stimulation enabled simultaneous non-invasive evaluation of both parameters, however this approach had not been previously tested in tumors. The aim of this work was to investigate the application of this technique, using a pseudo-continuous ASL (PCASL) sequence combined with breath-holding at 3 T, to measure CBF and CVR in high-grade gliomas and metastatic lesions, and to explore differences across tumoral-peritumoral regions and tumor types.
View Article and Find Full Text PDFStrahlenther Onkol
January 2025
Department of Radiation Oncology, University Hospital of Muenster, Albert-Schweitzer-Campus 1, Building A1, 48149, Muenster, Germany.
Purpose: While glioblastoma is the most common malignant brain tumor in adults, extracerebral manifestations are very rare in this highly aggressive disease with poor prognosis.
Methods: We conducted a systematic literature review in the PubMed database and complemented the data by inclusion of a case treated in our clinic. In this context, we report on a 60-year-old woman with a right frontal glioblastoma, IDH wildtype, MGMT methylated.
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