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Ongoing chromothripsis underpins osteosarcoma genome complexity and clonal evolution.
Cell
January 2025
European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton CB10 1SA, UK. Electronic address:
Osteosarcoma is the most common primary cancer of the bone, with a peak incidence in children and young adults. Using multi-region whole-genome sequencing, we find that chromothripsis is an ongoing mutational process, occurring subclonally in 74% of osteosarcomas. Chromothripsis generates highly unstable derivative chromosomes, the ongoing evolution of which drives the acquisition of oncogenic mutations, clonal diversification, and intra-tumor heterogeneity across diverse sarcomas and carcinomas.
View Article and Find Full Text PDFPrognostic Value of Molecular Aberrations in Low- or Intermediate-Risk Neuroblastomas: A Systematic Review.
Cancers (Basel)
December 2024
Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands.
Background: The 5-year prognosis of non-high-risk neuroblastomas is generally good (>90%). However, a proportion of patients show progression and succumb to their disease. We aimed to identify molecular aberrations (not incorporated in the current risk stratification) associated with overall survival (OS) and/or event-free survival (EFS) in patients diagnosed with non-high-risk neuroblastoma.
View Article and Find Full Text PDFAlkaPhos: a novel fluorescent probe as a potential point-of-care diagnostic tool to estimate recurrence risk of meningiomas.
Neurosurg Rev
January 2025
Department of Neurosurgery, Saarland University Medical Center, Homburg, Germany.
Deletion of the short arm of chromosome 1 (1p) increases recurrence rates in meningiomas by up to 33%, regardless of tumor grade, correlating with absence of intracellular alkaline phosphatase enzyme activity. Current screening methods for 1p deletion like fluorescence in situ hybridization (FISH) and loss of heterozygosity (LOH) analysis are resource-intensive. This study evaluated AlkaPhos, a novel fluorescent probe, for detecting alkaline phosphatase in meningioma cells and compared findings with FISH, LOH, and histochemical analysis.
View Article and Find Full Text PDFCongress of Neurological Surgeons systematic review and evidence based guideline on neuropathology for WHO grade II diffuse glioma: update.
J Neurooncol
January 2025
Department of Neurosurgery, NYU Langone Health and NYU Grossman School of Medicine, 530 1st Avenue, Skirball Suite 8R, New York, NY, 10016, USA.
Unlabelled: QUESTIONS AND RECOMMENDATIONS FROM THE PRIOR VERSION OF THESE GUIDELINES WITHOUT CHANGE: TARGET POPULATION: Adult patients (age ≥ 18 years) who have suspected low-grade diffuse glioma.
Question: What are the optimal neuropathological techniques to diagnose low-grade diffuse glioma in the adult?
Recommendation: Level I Histopathological analysis of a representative surgical sample of the lesion should be used to provide the diagnosis of low-grade diffuse glioma. Level III Both frozen section and cytopathologic/smear evaluation should be used to aid the intra-operative assessment of low-grade diffuse glioma diagnosis.
Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.
Nat Genet
January 2025
Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
Genetic studies of the metabolome can uncover enzymatic and transport processes shaping human metabolism. Using rare variant aggregation testing based on whole-exome sequencing data to detect genes associated with levels of 1,294 plasma and 1,396 urine metabolites, we discovered 235 gene-metabolite associations, many previously unreported. Complementary approaches (genetic, computational (in silico gene knockouts in whole-body models of human metabolism) and one experimental proof of principle) provided orthogonal evidence that studies of rare, damaging variants in the heterozygous state permit inferences concordant with those from inborn errors of metabolism.
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