Brain T1ρ mapping for grading and IDH1 gene mutation detection of gliomas: a preliminary study (original) (raw)
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American Journal of Neuroradiology, 2020
BACKGROUND: Determination of isocitrate dehydrogenase (IDH) status and, if IDH-mutant, assessing 1p19q codeletion are an important component of diagnosis of World Health Organization grades II/III or lower-grade gliomas. This has led to research into noninvasively correlating imaging features ("radiomics") with genetic status. PURPOSE: Our aim was to perform a diagnostic test accuracy systematic review for classifying IDH and 1p19q status using MR imaging radiomics, to provide future directions for integration into clinical radiology. DATA SOURCES: Ovid (MEDLINE), Scopus, and the Web of Science were searched in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Diagnostic Test Accuracy guidelines. STUDY SELECTION: Fourteen journal articles were selected that included 1655 lower-grade gliomas classified by their IDH and/or 1p19q status from MR imaging radiomic features. DATA ANALYSIS: For each article, the classification of IDH and/or 1p19q status using MR imaging radiomics was evaluated using the area under curve or descriptive statistics. Quality assessment was performed with the Quality Assessment of Diagnostic Accuracy Studies 2 tool and the radiomics quality score. DATA SYNTHESIS: The best classifier of IDH status was with conventional radiomics in combination with convolutional neural network-derived features (area under the curve ¼ 0.95, 94.4% sensitivity, 86.7% specificity). Optimal classification of 1p19q status occurred with texture-based radiomics (area under the curve ¼ 0.96, 90% sensitivity, 89% specificity). LIMITATIONS: A meta-analysis showed high heterogeneity due to the uniqueness of radiomic pipelines. CONCLUSIONS: Radiogenomics is a potential alternative to standard invasive biopsy techniques for determination of IDH and 1p19q status in lower-grade gliomas but requires translational research for clinical uptake. ABBREVIATIONS: AI ¼ artificial intelligence; AUC ¼ area under the curve; CNN ¼ convolutional neural network; IDH ¼ isocitrate dehydrogenase; IDH-mut ¼ IDH-mutant; LGG ¼ lower-grade gliomas; ML ¼ machine learning; PRISMA-DTA ¼ Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Diagnostic Test Accuracy; QUADAS-2 ¼ Quality Assessment of Diagnostic Accuracy Studies 2; RQS ¼ radiomics quality score; SVM ¼ support vector machine; VASARI ¼ Visually Accessible Rembrandt Images; WHO ¼ World Health Organization
Pathological Evaluation of Diffuse Gliomas Using IDH1 and ATRX in a Resource-Limited Setting
Cureus, 2024
Introduction: Classification of gliomas based on tumor histology remains the gold standard in the diagnosis and prognosis of gliomas. However, the recent World Health Organization (WHO) classification has included molecular studies for diagnosis and prognostication. Immunohistochemical markers such as isocitrate dehydrogenase 1 (IDH1) and alpha thalassemia/mental retardation syndrome X-linked (ATRX) can be used for the diagnosis and prognosis of the majority of gliomas. Objectives: We aim to study the frequencies of IDH1 and ATRX mutations in diffuse gliomas using surrogate immunohistochemical markers and correlate histopathological findings of gliomas with immunohistochemical findings. Material and methods: This was a retrospective study of one-year duration from January 2022 to December 2022, conducted in the department of pathology. Relevant data was retrieved from medical records. Histopathology blocks were collected and sent for immunohistochemical studies using tissue microarray for IDH1 and ATRX. Statistical analysis: Qualitative data were expressed in percentages and proportions. The difference in proportion was calculated using the chi-square test, and a p-value of <0.005 was taken as significant. Results: A total of 51 cases of diffuse gliomas were included in the study. The frequency of IDH1-positive diffuse astrocytomas was 33 (64.7%), and loss of ATRX was seen in 12 (23.5%) cases. Conclusion: Immunohistochemistry serves as a surrogate marker to detect molecular alterations in diffuse gliomas.
IDH mutation and 1p19q codeletion distinguish two radiological patterns of diffuse low-grade gliomas
Journal of neuro-oncology, 2017
Diffuse low-grade gliomas (DLGG) prognosis is variable, depending on several factors, including the isocitrate dehydrogenase (IDH) mutation and the 1p19q codeletion. A few studies suggested associations between these parameters and tumor radiological characteristics including topography. Our aim was analyzing the correlations between the IDH and 1p19q statuses and the tumor intracerebral distribution (at the lobar and voxel levels), volume, and borders. We conducted a retrospective, monocentric study on a consecutive series of 198 DLGG patients. The IDH and 1p19q statuses were recorded. The pre-treatment magnetic resonance FLAIR imagings were reviewed for determination of lobar topography, tumor volume, and characterisation of tumor borders (sharp or indistinct). We conducted a voxel-based lesion-symptom mapping analysis to investigate the correlations between the IDH and 1p19q statuses and topography at the voxel level. The IDH mutation and 1p19q statuses were correlated with the t...
Role of Quantitative Apparent Diffusion Coefficient in Predicting Genetic Subtypes of Gliomas
Nepal Journal of Neuroscience
Introduction: Magnetic resonance morphologic features are widely used in characterising gliomas for predicting grades and thereby aiding in preoperative management planning. We aim to find out if Magnetic Resonance Imaging (MRI) morphologic characters and quantitative apparent diffusion coefficient (ADC) measurements can predict genetic subtypes of high-grade gliomas. Methods and Materials: Preoperative MRI examinations of histopathologically proven gliomas were retrospectively studied for qualitative tumor characteristics, including location, extent, cortical involvement, margin sharpness, cystic component, mineralization or hemorrhage, and contrast enhancement. Quantitative diffusion metrics were also assessed. Chi-square test, students t-test and multivariate regression analysis were used to evaluate the relationship between MRI features and Isocitrate Dehydrogenase (IDH) mutational status. Results: The final study population included 23 patients (sixteen males and seven females,...
The Association between Whole‐Brain MR Spectroscopy and IDH Mutation Status in Gliomas
Journal of Neuroimaging, 2019
BACKGROUND AND PURPOSE: Mutations in isocitrate dehydrogenase (IDH) have a direct effect on gliomagenesis. The purpose of this study is to quantify differences in brain metabolites due to IDH mutations. METHODS: Magnetic Resonance Spectroscopic Imaging (MRSI) was performed in 35 patients with gliomas of different grade and varied IDH mutation status. Volumes of interest (VOIs) for active tumor (tVOI), peritumoral area (pVOI), and contralateral normal-appearing white matter (cVOI) were created. Metabolite ratios of Choline (Cho) to both N-acetylaspartate (NAA) and Creatine (Cr) were estimated. Ratios of Glutamate/Glutamine complex (Glx) and myoinositol (mIno) to Cr were also quantified. General linear models (GLMs) were used to estimate the effects of IDH mutation on metabolite measures, with age, gender, and tumor grade used as covariates. RESULTS: GLM analysis showed that maximum Cho/NAA and Cho/Cr in the tVOI were significantly (P < .05) higher in IDH mutant lesions as compared to wild-type. In the pVOI, mean Cho/Cr was found to be significantly different among IDH mutant and wild-type gliomas. Mean Cho/NAA (P = .306) and Cho/Cr (P = .292) within the tVOI were not significantly different. Ratios of Glx/Cr and mIno/Cr in any region showed no significant differences between IDH mutant and wild-type gliomas. No significant differences in metabolite ratios were seen in the cVOI between IDH mutants and wild-types. CONCLUSION: IDH mutation's effect in gliomas show an increase in Cho in the tumor and perilesional regions as compared to wild-type lesions but do not show widespread changes across the brain.
Brain Sciences
Our study evaluated the role of the T2–fluid-attenuated inversion recovery (FLAIR) mismatch sign in detecting isocitrate dehydrogenase (IDH) mutations based on a mixed sample of 24 patients with low- and high- grade gliomas. The association between the two was realized using univariate and multivariate logistic regression analysis. There was a substantial agreement between the two raters for the detection of the T2–FLAIR mismatch sign (Cohen’s kappa coefficient was 0.647). The T2–FLAIR mismatch sign when co-registered with the degree of tumor homogeneity were significant predictors of the IDH status (OR 29.642; 95% CI 1.73–509.15, p = 0.019). The probability of being IDH mutant in the presence of T2–FLAIR mismatch sign was as high as 92.9% (95% CI 63–99%). The sensitivity and specificity of T2–FLAIR mismatch sign in the detection of the IDH mutation was 88.9% and 86.7%, respectively. The T2–FLAIR mismatch sign may be an easy to use and helpful tool in recognizing IDH mutant patients...
Investigative Magnetic Resonance Imaging, 2015
To investigate whether volumetric analysis based on T2WI and contrastenhanced (CE) T1WI can distinguish between isocitrate dehydrogenase-1 mutationpositive (IDH1 P) and-negative (IDH1 N) glioblastomas (GBMs). Materials and Methods: We retrospectively enrolled 109 patients with histopathologically proven GBMs after surgery or stereotactic biopsy and preoperative MR imaging. We measured the whole-tumor volume in each patient using a semiautomatic segmentation method based on both T2WI and CE T1WI. We compared the tumor volumes between IDH1 P (n = 12) and IDH1 N (n = 97) GBMs using an unpaired t-test. In addition, we performed receiver operating characteristic (ROC) analysis for the differentiation of IDH1 P and IDH1 N GBMs using the tumor volumes based on T2WI and CE T1WI. Results: The mean tumor volume based on T2WI was larger for IDH1 P GBMs than IDH1 N GBMs (108.8 ± 68.1 and 59.3 ± 37.3 mm 3 , respectively, P = 0.0002). In addition, IDH1 P GBMs had a larger tumor volume on CE T1WI than did IDH1 N tumors (49.00 ± 40.14 and 22.53 ± 17.51 mm 3 , respectively, P < 0.0001). ROC analysis revealed that the tumor volume based on T2WI could distinguish IDH1 P from IDH1 N with a cutoff value of 90.25 (P < 0.05): 7 of 12 IDH1 P (58.3%) and 79 of 97 IDH1 N (81.4%). Conclusion: Volumetric analysis of T2WI and CE T1WI could enable IDH1 P GBMs to be distinguished from IDH1 N GBMs. We assumed that secondary GBMs with IDH1 P underwent stepwise progression and were more infiltrative than those with IDH1 N , which might have resulted in the differences in tumor volume.
Identification of IDH and TERTp mutation status using 1 H‐MRS in 112 hemispheric diffuse gliomas
Journal of Magnetic Resonance Imaging, 2019
Background: There is a growing interest in noninvasively defining molecular subsets of hemispheric diffuse gliomas based on the isocitrate dehydrogenase (IDH) and telomerase reverse transcriptase gene promoter (TERTp) mutation status, which correspond to distinct tumor entities, and differ in demographics, natural history, treatment response, recurrence, and survival patterns. Purpose: To investigate whether metabolite levels detected with short echo time (TE) proton MR spectroscopy (1 H-MRS) at 3T can be used for noninvasive molecular classification of IDH and TERTp mutation-based subsets of gliomas. Study Type: Retrospective. Subjects: In all, 112 hemispheric diffuse gliomas (70 males/42 females, mean age: 42.1 AE 13.9 years). Field Strength/Sequence: Short-TE 1 H-MRS (repetition time (TR) = 2000 msec, TE = 30 msec, number of signal averages = 192) and routine clinical brain tumor MR protocols were acquired at 3T. Assessment: 1 H-MRS data were quantified using LCModel software. TERTp and IDH1 or IDH2 (IDH1/2) mutations in the tissue were determined by either minisequencing or Sanger sequencing. Statistical Tests: Metabolic differences between IDH mutant and IDH wildtype gliomas were assessed by a Mann-Whitney U-test. A Kruskal-Wallis test followed by a Tukey-Kramer test was used to analyze metabolic differences between IDH and TERTp mutational molecular subsets of gliomas. A Spearman rank correlation coefficient was used to assess the correlations of metabolite intensities with the Ki-67 index. Furthermore, machine learning was employed to classify the IDH and TERTp mutational status of gliomas, and the accuracy, sensitivity, and specificity values were estimated. Results: Short-TE 1 H-MRS classified the presence of an IDH mutation with 88.39% accuracy, 76.92% sensitivity, and 94.52% specificity, and a TERTp mutation within primary IDH wildtype gliomas with 92.59% accuracy, 83.33% sensitivity, and 95.24% specificity. Data Conclusion: Short-TE 1 H-MRS could be used to identify molecular subsets of hemispheric diffuse gliomas corresponding to IDH and TERTp mutations. Level of Evidence: 3 Technical Efficacy Stage: 2
Neuro-oncology, 2014
We explored whether spontaneous imaging tumor growth (estimated by the velocity of diametric expansion) and isocitrate dehydrogenase 1 (IDH1) mutation (estimated by IDH1 immunoexpression) were independent predictors of long-term outcomes of diffuse low-grade gliomas in adults. One hundred thirty-one adult patients with newly diagnosed supratentorial diffuse low-grade gliomas were retrospectively studied. Isocitrate dehydrogenase 1 mutations were present in 107 patients. The mean spontaneous velocity of diametric expansion was 5.40 ± 5.46 mm/y. During follow-up (mean, 70 ± 54.7 mo), 56 patients presented a malignant transformation and 23 died. The median malignant progression-free survival and the overall survival were significantly longer in cases of slow velocity of diametric expansion (149 and 198 mo, respectively) than in cases of fast velocity of diametric expansion (46 and 82 mo; P < .001 and P < .001, respectively) and in cases with IDH1 mutation (100 and 198 mo, respect...
A Noninvasive Comparison Study between Human Gliomas with IDH1 and IDH2 Mutations by MR Spectroscopy
Metabolites
The oncogenes that are expressed in gliomas reprogram particular pathways of glucose, amino acids, and fatty acid metabolism. Mutations in isocitrate dehydrogenase genes (IDH1/2) in diffuse gliomas are associated with abnormally high levels of 2-hydroxyglutarate (2-HG) levels. The aim of this study was to determine whether metabolic reprogramming associated with IDH mutant gliomas leads to additional 1H MRS-detectable differences between IDH1 and IDH2 mutations, and to identify metabolites correlated with 2-HG. A total of 21 glioma patients (age= 37 ± 11, 13 males) were recruited for magnetic resonance spectroscopy (MRS) using semi-localization by adiabatic selective refocusing pulse sequence at an ultra-high-field (7T). For 20 patients, the tumor mutation subtype was confirmed by immunohistochemistry and DNA sequencing. LCModel analysis was applied for metabolite quantification. A two-sample t-test was used for metabolite comparisons between IDH1 (n = 15) and IDH2 (n = 5) mutant gl...