IDH1 and IDH2 mutational status is a critical biomarker with diagnostic, prognostic, and treatment implications in glioma. Although IDH1 p.R132H-specific immunohistochemistry is available, it is unable to identify other mutations in IDH1/2. Next-generation sequencing can accurately determine IDH1/2 mutational status but suffers from long turnaround time when urgent treatment planning and initiation is medically necessary. The Idylla assay can detect IDH1/2 mutational status from unstained formalin-fixed paraffin-embedded (FFPE) slides in as little as a few hours. In a clinical validation, we demonstrate clinical accuracy of 97% compared to next-generation sequencing. Sensitivity studies demonstrated a limit of detection of 2.5-5% variant allele frequency, even at DNA inputs below the manufacturer's recommended threshold. Overall, the assay is an effective and accurate method for rapid determination of IDH1/2 mutational status.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11128120 | PMC |
| http://dx.doi.org/10.1186/s13000-024-01492-3 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Integrated single-cell and bulk transcriptome analysis of R-loop score-based signature with regard to immune microenvironment, lipid metabolism and prognosis in HCC.
Front Immunol
January 2025
National Key Laboratory of Draggability Evaluation and Systematic Translational Medicine, Tianjin's Clinical Research Center for Cancer, Department of Bone and Soft Tissue Tumors, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin, China.
Background: Hepatocellular carcinoma (HCC) is one of the most prevalent causes of cancer-related morbidity and mortality worldwide. Late-stage detection and the complex molecular mechanisms driving tumor progression contribute significantly to its poor prognosis. Dysregulated R-loops, three-stranded nucleic acid structures associated with genome instability, play a key role in the malignant characteristics of various tumors.
View Article and Find Full Text PDFPrediction of isocitrate dehydrogenase mutation status in WHO grade II glioma by diffusion kurtosis imaging.
Pol J Radiol
December 2024
First Hospital of Shanxi Medical University, Shanxi, China.
Purpose: Isocitrate dehydrogenase (IDH) mutation status serves as a crucial prognostic indicator for glioma, typically assessed via immunohistochemical analysis post-surgery. Given the invasiveness of this approach, perhaps we can utilise convenient and noninvasive magnetic resonance imaging (MRI) methods to predict IDH mutation status. However, the current landscape lacks a standardised MRI technique for accurately predicting IDH mutations.
View Article and Find Full Text PDFClinicopathological Features, Epidermal Growth Factor Receptor (EGFR) Mutations and Anaplastic Lymphoma Kinase (ALK) Rearrangement-Based Survival of Patients With Advanced Non-small Cell Lung Cancer in a Tertiary Care Setting.
Cureus
December 2024
Clinical Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, PAK.
Background Lung cancer is the most frequent cause of cancer-related deaths and the most common type of cancer globally. It is generally classified into two main histologic subtypes: non-small cell lung cancer (NSCLC) and small cell lung cancer (SCLC). NSCLC is the most prevalent type and is enriched with genetic and molecular diversity.
View Article and Find Full Text PDFClinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.
Ital J Pediatr
January 2025
Pediatrics Department, Genetics Unit, Mansoura University, Mansoura, Egypt.
Background: Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase. This condition leads to muscle weakness, respiratory problems, and heart abnormalities in affected individuals.
Methods: The aim of the study is to share our experience through cross sectional study of patients with infantile-onset Pompe disease (IOPD) with different genetic variations, resulting in diverse clinical presentations.
Heterogeneity of the Treatment Effect with PARP Inhibitors in Metastatic Castration-resistant Prostate Cancer: A Living Interactive Systematic Review and Meta-analysis.
Eur Urol
January 2025
Department of Oncology, City of Hope Cancer Center, Goodyear, AZ, USA.
Background And Objective: Selection of patients harboring mutations in homologous recombination repair (HRR) genes for treatment with a PARP inhibitor (PARPi) is challenging in metastatic castration-resistant prostate cancer (mCRPC). To gain further insight, we quantitatively assessed the differential efficacy of PARPi therapy among patients with mCRPC and different HRR gene mutations.
Methods: This living meta-analysis (LMA) was conducted using the Living Interactive Evidence synthesis framework.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!