Prediction of H3K27M mutation status of diffuse midline gliomas using MRI features

2021 ◽  
Author(s):  
Richa Singh Chauhan ◽  
Karthik Kulanthaivelu ◽  
Nihar Kathrani ◽  
Abhishek Kotwal ◽  
Maya Dattatraya Bhat ◽  
...  
Keyword(s):  
Mutation Status ◽  
Mri Features ◽  
H3k27m Mutation

scholarly journals Can Conventional MRI Features Predict H3K27M Mutation Status of Diffuse Midline Gliomas?

2021 ◽  
Author(s):  
Richa Singh Chauhan ◽  
Karthik Kulanthaivelu ◽  
Nihar Kathrani ◽  
Abhishek Kotwal ◽  
Maya Dattatraya Bhat ◽  
...  
Keyword(s):  
Institutional Research ◽  
3.0 Tesla ◽  
Post Contrast ◽  
Imaging Protocol ◽  
Mutation Status ◽  
Conventional Mri ◽  
Mri Features ◽  
Signal Score ◽  
Definition Of ◽  
H3k27m Mutation

Abstract Purpose Pre-surgical prediction of H3K27M mutation in diffuse midline gliomas (DMG) on MRI is desirable. The purpose of the study is to elaborate conventional MRI (cMRI) of H3K27M-mutant DMGs and identify features that could discriminate them from WT (wild type)-DMGs.Methods cMRI features of 123 patients with DMG were evaluated conforming to the institutional research protocols. Multimodality MRI was performed on 1.5 or 3.0 Tesla MR Scanners with imaging protocol including T1w, T2w, FLAIR, diffusion-weighted, susceptibility-weighted and post- contrast T1w sequences. Pertinent cMRI features were annotated along the lines of Visually AcceSAble Rembrandt Images (VASARI) features and Intra Tumoral Susceptibility Signal score (ITSS) were evaluated. R software was used for statistical analysis.Results Sixty-one DMGs were H3K27M-mutant (mutant DMGs). The patients in the H3K27M-mutant DMG group were younger compared to the WT-DMG group (WT DMGs) (mean age 24.13+13.13 years vs. 35.79+18.74 years) (P= 0.016). The two groups differed on 5 cMRI features– i) enhancement quality (P=0.032), ii) thickness of enhancing margin (P=0.05), iii) proportion of edema (P=0.002), iv) definition of non-contrast enhancing tumor (NCET) margin (P=0.001) and v) cortical invasion (P=0.037). The mutant DMGs showed greater enhancement and greater thickness of enhancing margin while the WT DMGs exhibited significantly larger edema proportion with poorly defined NCET margins and cortical invasion. ITSS was not significantly different among the groups. Conclusion cMRI features like enhancement quality, thickness of the enhancing margin, proportion of edema, definition of NCET margin and cortical invasion can discriminate between the H3K27M-mutant and WT DMGs.

MRI Features Associated with TERT Promoter Mutation Status in Glioblastoma

2019 ◽  
Vol 29 (3) ◽  
pp. 357-363 ◽  
Author(s):  
Jana Ivanidze ◽  
Mark Lum ◽  
David Pisapia ◽  
Rajiv Magge ◽  
Rohan Ramakrishna ◽  
...  
Keyword(s):  
Tert Promoter Mutation ◽  
Promoter Mutation ◽  
Mutation Status ◽  
Tert Promoter ◽  
Mri Features

scholarly journals MR imaging features of diffuse intrinsic pontine glioma and relationship to overall survival: report from the International DIPG Registry

2020 ◽  
Vol 22 (11) ◽  
pp. 1647-1657 ◽  
Author(s):  
James L Leach ◽  
James Roebker ◽  
Austin Schafer ◽  
Joshua Baugh ◽  
Brooklyn Chaney ◽  
...  
Keyword(s):  
Overall Survival ◽  
Multivariable Analysis ◽  
Diffuse Intrinsic Pontine Glioma ◽  
Imaging Features ◽  
Pontine Glioma ◽  
Distant Disease ◽  
Mutation Status ◽  
Mri Features ◽  
Multivariable Analyses ◽  
Prospective Trials

Abtract Background This study describes imaging features of diffuse intrinsic pontine glioma (DIPG) and correlates with overall survival (OS) and histone mutation status in the International DIPG Registry (IDIPGR). Methods Four hundred cases submitted to the IDIPGR with a local diagnosis of DIPG and baseline MRI were evaluated by consensus review of 2 neuroradiologists; 43 cases were excluded (inadequate imaging or alternative diagnoses). Agreement between reviewers, association with histone status, and univariable and multivariable analyses relative to OS were assessed. Results On univariable analysis imaging features significantly associated with worse OS included: extrapontine extension, larger size, enhancement, necrosis, diffusion restriction, and distant disease. On central review, 9.5% of patients were considered not to have DIPG. There was moderate mean agreement of MRI features between reviewers. On multivariable analysis, chemotherapy, age, and distant disease were predictors of OS. There was no difference in OS between wild-type and H3 mutated cases. The only imaging feature associated with histone status was the presence of ill-defined signal infiltrating pontine fibers. Conclusions Baseline imaging features are assessed in the IDIPGR. There was a 9.5% discordance in DIPG diagnosis between local and central review, demonstrating need for central imaging confirmation for prospective trials. Although several imaging features were significantly associated with OS (univariable), only age and distant disease were significant on multivariable analyses. There was limited association of imaging features with histone mutation status, although numbers are small and evaluation exploratory.

scholarly journals Prediction of BRAF mutation status of craniopharyngioma using magnetic resonance imaging features

2018 ◽  
Vol 129 (1) ◽  
pp. 27-34 ◽  
Author(s):  
Qi Yue ◽  
Yang Yu ◽  
Zhifeng Shi ◽  
Yongfei Wang ◽  
Wei Zhu ◽  
...  
Keyword(s):  
Roc Curve ◽  
Clinical Characteristics ◽  
Tumor Resection ◽  
High Sensitivity ◽  
Pituitary Stalk ◽  
Preoperative Treatment ◽  
Imaging Features ◽  
Diagnostic Features ◽  
Mutation Status ◽  
Mri Features

OBJECTIVETreatment with a BRAF mutation inhibitor might shrink otherwise refractory craniopharyngiomas and is a promising preoperative treatment to facilitate tumor resection. The aim of this study was to investigate the noninvasive diagnosis of BRAF-mutated craniopharyngiomas based on MRI characteristics.METHODSFifty-two patients with pathologically diagnosed craniopharyngioma were included in this study. Polymerase chain reaction was performed on tumor tissue specimens to detect BRAF and CTNNB1 mutations. MRI manifestations—including tumor location, size, shape, and composition; signal intensity of cysts; enhancement pattern; pituitary stalk morphology; and encasement of the internal carotid artery—were analyzed by 2 neuroradiologists blinded to patient identity and clinical characteristics, including BRAF mutation status. Results were compared between the BRAF-mutated and wild-type (WT) groups. Characteristics that were significantly more prevalent (p < 0.05) in the BRAF-mutated craniopharyngiomas were defined as diagnostic features. The minimum number of diagnostic features needed to make a diagnosis was determined by analyzing the receiver operating characteristic (ROC) curve.RESULTSEight of the 52 patients had BRAF-mutated craniopharyngiomas, and the remaining 44 had BRAF WT tumors. The clinical characteristics did not differ significantly between the 2 groups. Interobserver agreement for MRI data analysis was relatively reliable, with values of Cohen κ ranging from 0.65 to 0.97 (p < 0.001). A comparison of findings in the 2 patient groups showed that BRAF-mutated craniopharyngiomas tended to be suprasellar (p < 0.001), spherical (p = 0.005), predominantly solid (p = 0.003), and homogeneously enhancing (p < 0.001), and that patients with these tumors tended to have a thickened pituitary stalk (p = 0.014). When at least 3 of these 5 features were present, a tumor might be identified as BRAF mutated with a sensitivity of 1.00 and a specificity of 0.91. The area under the ROC curve for the sum of all 5 diagnostic criteria was 0.989 (p < 0.001).CONCLUSIONSThe BRAF mutation status of craniopharyngiomas might be predicted using certain MRI features with relatively high sensitivity and specificity, thus offering potential guidance for the preoperative administration of BRAF mutation inhibitors.

scholarly journals SURG-27. TREATING HYDROCEPHALUS IN DIFFUSE MIDLINE GLIOMAS WITH AN H3 K27M MUTATION

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii209-ii209
Author(s):  
L Coombs ◽  
R LaRocca ◽  
Jessica Hata ◽  
H Nickols ◽  
A Spalding ◽  
...  
Keyword(s):  
Chart Review ◽  
Obstructive Hydrocephalus ◽  
Malignant Gliomas ◽  
Retrospective Chart Review ◽  
Third Ventriculostomy ◽  
Tumor Patients ◽  
Initial Management ◽  
Mutation Status ◽  
Characteristic Imaging ◽  
H3k27m Mutation

Abstract BACKGROUND Diffuse midline gliomas (DMG) are a subset of malignant gliomas that share a characteristic Histone H3K27M mutation. These tumors are centrally located and may cause hydrocephalus on initial presentation. DMG lack characteristic imaging that distinguish from other primary brain tumors in the midline. We conducted this retrospective chart review of 43 consecutive patients presenting with midline tumors to determine: how many had a DMG; whether DMG patients with hydrocephalus were candidates for resection; and what the outcomes of endoscopic third ventriculostomy (ETV) versus ventriculoperitoneal shunt (VPS) placement were, as compared to wild type (WT) tumors. METHODS We conducted an IRB approved retrospective chart review of patients presenting with midline tumors from 9/2016-3/2020 to determine H3K27M mutation status, hydrocephalus, and neurosurgery intervention. RESULTS The median age of all midline tumor patients was 19.1 years (range 1.1-80.1). 26% (11/43) of midline tumors presented with H3K27M mutation, with a higher rate of hydrocephalus compared to patients without mutation [7/11 (65%) for DMG vs. 6/32 (19%) for WT, p&lt; 0.05]. Of the seven H3K27M patients presenting with hydrocephalus, none were candidates for resection, 5 underwent ETV, and 2 underwent VPS placement as initial management. 4 out of these 5 ETVs failed within an average of 24 days (6-42 days). 2 patients then underwent VP shunt placement; the other 2 underwent secondary ETV but both failed and required VP shunting as well. All 6 WT tumor patients had one procedure (1 ETV, 5 resection) to relieve hydrocephalus, and no patients had recurrent hydrocephalus. CONCLUSIONS Both pediatric and adult patients may present with DMG associated with a higher rate of unresectable tumors and hydrocephalus on presentation. Furthermore, these data suggest that neuroendoscopic third ventriculostomy and septum pellucidum fenestration for the management of obstructive hydrocephalus in patients with DMG may be less robust than shunting.

scholarly journals Prediction of H3K27M-mutant Brainstem Glioma by Amide Proton Transfer Weighted Imaging and Its Derived Radiomics

2021 ◽  
Author(s):  
Zhizheng Zhuo ◽  
Liying Qu ◽  
Peng Zhang ◽  
Yunyun Duan ◽  
Dan Cheng ◽  
...  
Keyword(s):  
Sensitivity Analysis ◽  
Proton Transfer ◽  
Learning Algorithm ◽  
Characteristic Curve ◽  
Predictive Ability ◽  
Brainstem Glioma ◽  
Amide Proton ◽  
Mutation Status ◽  
Amide Proton Transfer ◽  
H3k27m Mutation

Abstract Purpose H3K27M-mutant associated brainstem glioma (BSG) carries a very poor prognosis. We aimed to predict H3K27M mutation status by amide proton transfer weighted (APTw) imaging and radiomic features. Methods Eighty-one BSG patients with APTw imaging at 3T MRI and known H3K27M status were retrospectively studied. APTw values (mean, median and max) and radiomic features within manually delineated 3D tumor masks were extracted. Comparison of APTw measures between H3K27M-mutant and wildtype groups was conducted by two-sample Student’s T/Mann-Whitney U test and receiver operating characteristic curve (ROC) analysis. H3K27M-mutant prediction using APTw-derived radiomics was conducted using a machine-learning algorithm in randomly selected train (n=64) and test (n=17) sets. Sensitivity analysis with additional random splits of train and test sets, 2D tumor masks and other classifiers were conducted. Finally, a prospective cohort including 29 BSG patients was acquired for validation of the radiomics algorithm. Results BSG patients with H3K27M-mutant were younger and had higher max APTw values than those with wildtype. APTw-derived radiomic measures reflecting tumor heterogeneity could predict H3K27M mutation status with an accuracy of 0.88, sensitivity of 0.92 and specificity of 0.80 in the test set. Sensitivity analysis confirmed the predictive ability (accuracy range: 0.71-0.94). In the independent prospective validation cohort, the algorithm reached an accuracy of 0.86, sensitivity of 0.88 and specificity of 0.85 for predicting H3K27M-mutation status. Conclusion BSG patients with H3K27M-mutant had higher max APTw values than those with wildtype. APTw-derived radiomics could accurately predict a H3K27M-mutant status in BSG patients.

373: Relationship Between VHL Mutation Status, Tumor VEGF Expression and Serum VEGF Measurement in Sporadic Renal Cell Carcinoma

2006 ◽  
Vol 175 (4S) ◽  
pp. 122-122
Author(s):  
Patricia Fergelot ◽  
Nathalie Rioux-Leclercq ◽  
Bernard Lobel ◽  
Francois Guille ◽  
Jean-Jacques Patard
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Vegf Expression ◽  
Mutation Status ◽  
Sporadic Renal Cell Carcinoma

NTRK3 receptor expression is strictly associated with medullary thyroid cancer RET mutation status

2014 ◽  
Author(s):  
Malgorzata Oczko-Wojciechowska ◽  
Michal Swierniak ◽  
Malgorzata Kowalska ◽  
Agnieszka Pawlaczek ◽  
Monika Kowal ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Medullary Thyroid Cancer ◽  
Receptor Expression ◽  
Mutation Status ◽  
Medullary Thyroid ◽  
Ret Mutation
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