scholarly journals MRI Features and IDH Mutational Status of Grade II Diffuse Gliomas: Impact on Diagnosis and Prognosis

2018 ◽  
Vol 210 (3) ◽  
pp. 621-628 ◽  
Author(s):  
Javier E. Villanueva-Meyer ◽  
Matthew D. Wood ◽  
Byung Se Choi ◽  
Marc C. Mabray ◽  
Nicholas A. Butowski ◽  
...  
2020 ◽  
Vol 137 ◽  
pp. 10-17
Author(s):  
Enrico Franceschi ◽  
Alicia Tosoni ◽  
Stefania Bartolini ◽  
Santino Minichillo ◽  
Antonella Mura ◽  
...  

2020 ◽  
Vol 2 (1) ◽  
Author(s):  
Djuno I van Lent ◽  
Kirsten M van Baarsen ◽  
Tom J Snijders ◽  
Pierre A J T Robe

Abstract Background Isocitrate dehydrogenase (IDH) mutation and 1p/19q-codeletion are oncogenetic alterations with a positive prognostic value for diffuse gliomas, especially grade II and III. Some studies have suggested differences in biological behavior as reflected by radiological characteristics. In this paper, the literature regarding radiological characteristics in grade II and III glioma subtypes was systematically evaluated and a meta-analysis was performed. Methods Studies that addressed the relationship between conventional radiological characteristics and IDH mutations and/or 1p/19q-codeletions in newly diagnosed, grade II and III gliomas of adult patients were included. The “3-group analysis” compared radiological characteristics between the WHO 2016 glioma subtypes (IDH-mutant astrocytoma, IDH-wildtype astrocytoma, and oligodendroglioma), and the “2-group analysis” compared radiological characteristics between 1p/19q-codeleted gliomas and 1p/19q-intact gliomas. Results Fourteen studies (3-group analysis: 670 cases, 2-group analysis: 1042 cases) were included. IDH-mutated astrocytomas showed more often sharp borders and less frequently contrast enhancement compared to IDH-wildtype astrocytomas. 1p/19q-codeleted gliomas had less frequently sharp borders, but showed a heterogeneous aspect, calcification, cysts, and edema more frequently. For the 1p/19q-codeleted gliomas, a sensitivity of 96% was found for heterogeneity and a specificity of 88.1% for calcification. Conclusions Significant differences in conventional radiological characteristics exist between the WHO 2016 glioma subtypes, which may reflect differences in biological behavior. However, the diagnostic value of the independent radiological characteristics is insufficient to reliably predict the molecular genetic subtype.


2020 ◽  
Vol 12 ◽  
pp. 175883592090541 ◽  
Author(s):  
Marco Tucci ◽  
Stella D’Oronzo ◽  
Francesco Mannavola ◽  
Claudia Felici ◽  
Domenica Lovero ◽  
...  

Background: Circulating tumor cells (CTCs) have recently emerged as a new dynamic soluble marker for several malignancies including cutaneous melanoma (CM) and are suitable for prognostic evaluations and treatment monitoring. However, to date many limitations still hamper the wide-scale application of CTCs in CM setting, including the lack of standardized methods as well as both low levels and heterogeneity of these cells. Methods: We developed a protocol for CTC detection in CM based on immune-magnetic sorting to deplete CD45-, CD31- or CD34-positive cells, followed by dielectrophoretic DEPArray separation according to cell morphology and immunophenotype. To this end, we explored the expression of melanoma stem cell antigens (CD271, ABCB5, and RANK) and the epithelial-to-mesenchymal transition markers (N-Cad, -CD44, and -MCAM/CD146) on CTCs from 17 stage IV CM patients, and investigated their BRAF mutational status by droplet digital PCR. Results: The number of CTCs isolated from CM patients ranged from 2 to 91 cells (38 ± 6.4) with respect to healthy donors ( p < 0.0002). To confirm the melanoma origin of isolated cells, we observed an 80% agreement between their BRAFV600 mutational status and matched primary tumors. The characterization of the immune phenotype of isolated cells revealed high interindividual and intraindividual heterogeneity that was found to correlate with the clinical outcome. Conclusions: The dual-step protocol of immune-magnetic sorting and subsequent dielectrophoretic DEPArray separation, turned out to be a suitable method to isolate viable CTCs from stage IV melanoma patients and enabled quantitative and qualitative analyses on these cells, which may deserve prospective evaluation for potential use in the clinical practice.


2015 ◽  
Vol 129 (4) ◽  
pp. 585-596 ◽  
Author(s):  
Adriana Olar ◽  
Khalida M. Wani ◽  
Kristin D. Alfaro-Munoz ◽  
Lindsey E. Heathcock ◽  
Hinke F. van Thuijl ◽  
...  

EBioMedicine ◽  
2016 ◽  
Vol 13 ◽  
pp. 80-89 ◽  
Author(s):  
Yu-An Zhang ◽  
Yunyun Zhou ◽  
Xin Luo ◽  
Kai Song ◽  
Xiaotu Ma ◽  
...  
Keyword(s):  

2018 ◽  
Vol 07 (02) ◽  
pp. 129-134
Author(s):  
Shameen Devi ◽  
Michelle De Padua ◽  
Iravathy Kalal

Abstract Introduction The updated 2016 classification of gliomas incorporates well-established molecular parameters into the classification of diffuse gliomas, taking into account isocitrate dehydrogenase 1 (IDH1) mutation, α-thalassemia/mental retardation syndrome X-linked (ATRX) loss, and 1p/19q co-deletion. Aim and Objectives To study IDH1 and ATRX mutations in gliomas, 1p/19q co-deletion by fluorescent in situ hybridization (FISH) in oligodendroglioma, and to correlate IDH1, ATRX, and 1p/19q with tumor type and grade. Material and Methods Total 73 cases of gliomas were diagnosed on histology and graded as astrocytoma (grades 2–4), oligodendroglioma (grades 2–3), and oligoastrocytoma (grades 2–3) by two pathologists independently. IDH mutation and ATRX expression were analyzed using immunohistochemistry in all cases whereas 1p/19q co-deletion was studied using FISH in cases with oligodendroglioma and oligoastrocytoma morphology. Results Total 48 cases of astrocytoma, 9 cases of oligoastrocytoma, and 16 cases of oligodendroglioma were included. The maximum number of IDH1 mutation cases were seen in diffuse astrocytoma (7/10; 70%) as compared with anaplastic astrocytoma (5/15; 33.33%), glioblastoma multiforme (GBM) (3/23; 13.04%) grade II oligoastrocytoma (3/6; 50%), anaplastic oligoastrocytoma (2/3; 66.67%), and oligodendroglioma grade II (7/10; 70%). ATRX loss was seen in diffuse astrocytoma grade II (6/10; 60%), anaplastic astrocytoma (6/15; 40%), oligoastrocytoma grade II (2/6; 33.33%), and anaplastic oligoastrocytoma (1/3; 33.33%). 1p/19q co-deletion was seen in oligoastrocytoma (2/2; 100%), anaplastic oligoastrocytoma (1/2; 50%), oligodendroglioma (3/4; 75%), and anaplastic oligodendroglioma (1/3; 33.33%). Six of the seven cases with 1p/19q co-deletion also showed IDH1 mutation. One of seven 1p/19q co-deleted cases had loss of expression of ATRX. Conclusion Incorporation of IDH1 mutation, ATRX loss, and 1p/19q co-deletion molecular studies help in a more accurate diagnosis and classification of gliomas.


2020 ◽  
Author(s):  
Andrey Postnov ◽  
Nina Vikhrova ◽  
Samuel Valable ◽  
Diana Kalaeva ◽  
Tatiana Konakova ◽  
...  

Abstract Purpose: Conventional MRI based on contrast enhancement and T2/FLAIR is often not sufficient in differentiating grade II from grade III and grade III from grade IV diffuse gliomas. Here we assessed advanced metabolic imaging using two well characterized PET tracers, namely 18F-FDG and 11C-Methionine.Methods: In this prospective study, 39 patients were enrolled with diffuse gliomas of grades II, III or IV underwent dynamic [18F]-FDF-PET and [11C]-Methionine. The first minutes were taken into accountResults: The use of 11C- Methionine provided significant differences between the different histologic subgroups with a higher number of parameters than did the use of 18 F-FDG. The most informative parameter is T/Np (T/N at the peak of the first maximum) with 11C- Methionine.Conclusion: The study of the first minute passage of 18F-FDG and/or 11C- Methionine through the tumor and healthy tissues in brain gliomas could not only allow improving the identification of the different glioma grades, but also to shorten the time spent by the patients under the camera. In case of using one tracer, methionine still would be the best choice. Otherwise, the use of 18F-FDG and SUVр (SUV at the peak of the first maximum) would provide results likely comparable to methionine T/N index.


2020 ◽  
Vol 17 (3) ◽  
pp. 4-11
Author(s):  
Kajan Ranabhat ◽  
Suresh Bishokarma ◽  
Pratyush Shrestha ◽  
Rajesh Panth ◽  
Ram Kumar Ghimire

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, mean age 40 years ± 14.4, age range 13–66 years). Nine tumors were IDH mutant and fourteen were IDH wild type. IDH wild-type tumors showed patchy to diffuse diffusion restriction and a lower apparent diffusion coefficient (ADC) compared to IDH mutant types. T2/FLAIR high signal and maximum ADC values were associated with IDH mutational status. Contrast enhancement, hemorrhage and necrosis were significantly higher in IDH wild type gliomas. There was no statistical difference in the age, gender, tumor burden, location, site and edema between the IDH-mutant and wild-type tumors. Conclusions: Magnetic resonance morphometric parameters that include T2/FLAIR signal character, contrast enhancement pattern, hemorrhage and necrosis and quantitative mean ADC /normalized ADC can support preoperatively the distinction of genetic subtypes of gliomas.


2020 ◽  
Vol 8 (1) ◽  
Author(s):  
Hideyuki Arita ◽  
Yuko Matsushita ◽  
Ryunosuke Machida ◽  
Kai Yamasaki ◽  
Nobuhiro Hata ◽  
...  

AbstractTERT promoter mutations are commonly associated with 1p/19q codeletion in IDH-mutated gliomas. However, whether these mutations have an impact on patient survival independent of 1p/19q codeletion is unknown. In this study, we investigated the impact of TERT promoter mutations on survival in IDH-mutated glioma cases. Detailed clinical information and molecular status data were collected for a cohort of 560 adult patients with IDH-mutated gliomas. Among these patients, 279 had both TERT promoter mutation and 1p/19q codeletion, while 30 had either TERT promoter mutation (n = 24) or 1p/19q codeletion (n = 6) alone. A univariable Cox proportional hazard analysis for survival using clinical and genetic factors indicated that a Karnofsky performance status score (KPS) of 90 or 100, WHO grade II or III, TERT promoter mutation, 1p/19q codeletion, radiation therapy, and extent of resection (90–100%) were associated with favorable prognosis (p < 0.05). A multivariable Cox regression model revealed that TERT promoter mutation had a significantly favorable prognostic impact (hazard ratio = 0.421, p = 0.049), while 1p/19q codeletion did not have a significant impact (hazard ratio = 0.648, p = 0.349). Analyses incorporating patient clinical and genetic information were further conducted to identify subgroups showing the favorable prognostic impact of TERT promoter mutation. Among the grade II-III glioma patients with a KPS score of 90 or 100, those with IDH-TERT co-mutation and intact 1p/19q (n = 17) showed significantly longer survival than those with IDH mutation, wild-type TERT, and intact 1p/19q (n = 185) (5-year overall survival, 94% and 77%, respectively; p = 0.032). Our results demonstrate that TERT promoter mutation predicts favorable prognosis independent of 1p/19q codeletion in IDH-mutated gliomas. Combined with its adverse effect on survival among IDH-wild glioma cases, the bivalent prognostic impact of TERT promoter mutation may help further refine the molecular diagnosis and prognostication of diffuse gliomas.


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