scholarly journals MRI Imaging Characteristics of Glioblastoma with Concurrent Gain of Chromosomes 19 and 20

Tomography ◽  
2021 ◽  
Vol 7 (2) ◽  
pp. 228-237
Author(s):  
Taejin L. Min ◽  
Jason W. Allen ◽  
Jose E. Velazquez Vega ◽  
Stewart G. Neill ◽  
Brent D. Weinberg
Keyword(s):  
Methylation Status ◽  
Tumor Location ◽  
Genetic Alterations ◽  
Primary Brain Tumor ◽  
Response To Therapy ◽  
Recent Analysis ◽  
Imaging Features ◽  
Idh Mutation ◽  
Mri Imaging ◽  
Imaging Characteristics

Glioblastoma (GBM) is the most common and deadly primary brain tumor in adults. Some of the genetic variations identified thus far, such as IDH mutation and MGMT promotor methylation, have implications for survival and response to therapy. A recent analysis of long-term GBM survivors showed that concurrent gain of chromosomes 19 and 20 (19/20 co-gain) is a positive prognostic factor that is independent of IDH mutation status. In this study, we retrospectively identified 18 patients with 19/20 co-gain and compared their imaging features to a control cohort without 19/20 co-gain. Imaging features such as tumor location, size, pial invasion, and ependymal extension were examined manually. When compared without further genetic subclassification, both groups showed similar imaging features except for rates of pial invasion. When each group was subclassified by MGMT promotor methylation status however, the two groups showed different imaging features in a number of additional ways including tumor location, size, and ependymal extension. Our results indicate that different permutations of various genetic mutations that coexist in GBM may interact in unpredictable ways to affect imaging appearance, and that imaging prognostication may be better approached in the context of the global genomic profile rather than individual genetic alterations.

scholarly journals A Visually Interpretable, Dictionary-Based Approach to Imaging-Genomic Modeling, With Low-Grade Glioma as a Case Study

2018 ◽  
Vol 17 ◽  
pp. 117693511880279 ◽  
Author(s):  
Srikanth Kuthuru ◽  
William Deaderick ◽  
Harrison Bai ◽  
Chang Su ◽  
Tiep Vu ◽  
...  
Keyword(s):  
Dictionary Learning ◽  
Clinical Decision Making ◽  
Genetic Alterations ◽  
Idh1 Mutation ◽  
Response To Therapy ◽  
Diagnostic Process ◽  
Low Grade ◽  
Imaging Features ◽  
Data Set ◽  
Low Grade Gliomas

Radiomics is a rapidly growing field in which sophisticated imaging features are extracted from radiology images to predict clinical outcomes/responses, genetic alterations, and other outcomes relevant to a patient’s prognosis or response to therapy. This approach can effectively capture intratumor phenotypic heterogeneity by interrogating the “larger” image field, which is not possible with traditional biopsy procedures that interrogate specific subregions alone. Most models in radiomics derive numerous imaging features (eg, texture, shape, size) from a radiology data set and then learn complex nonlinear hypotheses to solve a given prediction task. This presents the challenge of visual interpretability of radiomic features necessary for effective adoption of radiomic models into the clinical decision-making process. To this end, we employed a dictionary learning approach to derive visually interpretable imaging features relevant to genetic alterations in low-grade gliomas. This model can identify regions of a medical image that potentially influence the prediction process. Using a publicly available data set of magnetic resonance imaging images from patients diagnosed with low-grade gliomas, we demonstrated that the dictionary-based model performs well in predicting 2 biomarkers of interest (1p/19q codeletion and IDH1 mutation). Furthermore, the visual regions (atoms) associated with these dictionaries show association with key molecular pathways implicated in gliomagenesis. Our results show that dictionary learning is a promising approach to obtain insights into the diagnostic process and to potentially aid radiologists in selecting physiologically relevant biopsy locations.

scholarly journals PATH-35. RETROSPECTIVE ANALYSIS OF 145 PATIENTS WITH GLIOBLASTOMA; CORRELATING MOLECULAR ALTERATION INCIDENCE WITH DEMOGRAPHICS, TUMOR LOCATION, AND PROGNOSIS

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi150-vi151
Author(s):  
Mina Lobbous ◽  
ZacK Tucker ◽  
Elizabeth Coffee ◽  
Louis Nabors
Keyword(s):  
Progression Free Survival ◽  
Tumor Location ◽  
Genetic Alterations ◽  
Primary Brain Tumor ◽  
Demographic Variables ◽  
The Cancer Genome Atlas ◽  
Missense Mutations ◽  
Molecular Alteration ◽  
Molecular Alterations ◽  
Cdkn2a Deletion

Abstract Glioblastoma is the most common and most aggressive primary brain tumor in adults. Glioblastoma was the first neoplasm to be systemically studied by The Cancer Genome Atlas and is one of the most molecularly well-characterized tumors in humans. Molecular profiling of glioblastoma is increasingly available and had led to the identifications of multiple prognostic factors as well as potential actionable targets for novel therapies. We identified 145 patients diagnosed with glioblastoma whose tumor tissue was analyzed using next generation sequencing (NGS). The NGS was performed using validated, commercially available panels. We studied somatic genetic alterations with a particular focus on TERT (which was altered in 55.9% of patients in the dataset), CDKN2A (44%), TP53 (39%), EGFR (38.6%), PTEN (31%), IDH1 (20%), and CDK4 (9%). These molecular alterations were analyzed in relation to the patients’ tumor locations, demographics, and outcomes. We used multiple binary logistic regressions to assess whether demographics and tumor location were predictive of the above alterations We also assessed the relationship between molecular alterations and outcomes when controlling for treatment and demographic variables. Among demographic variables, age predicted alterations in IDH1, EGFR, TERT, TP53, and PTEN. Frontal lobe tumors were more likely to be IDH1-mutated, irrespective of patient age. Sex and race did not predict the incidence of the molecular alterations of interest. Analysis of outcomes revealed that, when controlling for treatment and demographic variables, TERT promoter mutations, TP53 nonsense mutations, and EGFR A289V were predictive of a decreased progression-free survival, while CDKN2A deletion, PTEN missense mutations, and EGFR A289V were predictive of decreased overall survival. Our experience highlights the importance of incorporating routine NGS in the management of patients with glioblastoma. More studies are required to evaluate the predictive and/or prognostic values of different molecular alterations.

scholarly journals MEGF10, a Glioma Survival-Associated Molecular Signature, Predicts IDH Mutation Status

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Guanzhang Li ◽  
Zhiliang Wang ◽  
Chuanbao Zhang ◽  
Xing Liu ◽  
Fuqiang Yang ◽  
...  
Keyword(s):  
Promoter Region ◽  
Genetic Alterations ◽  
Primary Brain Tumor ◽  
The Cancer Genome Atlas ◽  
Molecular Signature ◽  
Common Mutation ◽  
Lower Grade ◽  
Idh Mutation ◽  
Mutation Status ◽  
Genome Atlas

Glioma is the most common primary brain tumor with various genetic alterations; among which, IDH mutation is the most common mutation and plays an important role in glioma early development, especially in lower grade glioma (LGG, WHO II-III). Previous studies have found that IDH mutation is tightly associated with extensive methylation across whole genome in glioma. To further investigate the role of IDH, we obtained methylation data of 777 samples from CGGA (Chinese Glioma Genome Atlas) and TCGA (The Cancer Genome Atlas) with IDH mutation status available. A package compiled under R language called Tspair was used as the main analytic tool to find potential probes that were significantly affected by IDH mutation. As a result, we found one pair of probes, cg06940792 and cg26025891, which was capable of predicting IDH mutation status precisely. The hypermethylated probe was cg06940792, designed in the promoter region of MEGF10, while the hypomethylated probe was cg26025891, designed in the promoter region of PSTPIP1. Survival analysis proved that hypermethylation or low expression of MEGF10 indicated a favorable prognosis in 983 glioma samples. Moreover, gene ontology analysis demonstrated that MEGF10 was associated with cell migration, cell proliferation, and regulation of apoptosis in glioma. All findings above can be validated in three other independent cohorts. In a word, our results suggested that methylation level and mRNA expression of MEGF10 in glioma were not only correlated with IDH mutation but also associated with clinical outcome of patients, providing potential guide for future dissection of IDH role in glioma.

The analysis of EGFR variants in Chinese adult glioblastoma patients.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e14020-e14020
Author(s):  
Qiao Li ◽  
Weijie Sun ◽  
Yi Lu ◽  
Didi Guo ◽  
Tiantian Han ◽  
...  
Keyword(s):  
Kinase Inhibitors ◽  
Standard Operating Procedure ◽  
Tumor Location ◽  
Genetic Alterations ◽  
Primary Brain Tumor ◽  
Copy Number Variations ◽  
Gene Profiling ◽  
Egfr Amplification ◽  
Activating Mutations ◽  
Significant Difference

e14020 Background: Glioblastoma multiforme (GBM) is the most common primary brain tumor with complex genetic alterations and genomic profiles. EGFR amplification occurs in approximately 40% of primary GBM，EGFR mutation is also a prevalent genetic abnormality in GBM. A series of potential therapies targeting EGFR variants are currently in development, such as tyrosine kinase inhibitors (TKIs), monoclonal antibodies, vaccines, etc. However, to date, EGFR-targeted therapy continues to face significant challenges. A deeper understanding of EGFR variant profiles and pathobiology of GBM will be required. Methods: Next-generation sequencing of 131-gene profiling was performed to analyze EGFR activating mutations from 891 Chinese glioma patients in 2019-2020. Somatic mutations and copy number variations were detected following the standard operating procedure (SOP). We screened out the EGFR activating mutation and calculated the mutation frequency and the tumor location. Results: 51 GBM patients had activating mutations. The average age was 49 years (range,25-73 years). Most of the tumors occurred in the cerebral hemisphere (56.9%), followed by ventricles (3.9%) and thalamus (3.9%), etc. 43/51 (84.3%) were accompanied by high-fold EGFR amplification. 9/12 (75%) were EGFR intracellular mutation occurs with EGFR amplification, 31/35 (88.6%) were EGFR extracellular mutation occurs with EGFR amplification. Moreover, 4 patients carried EGFR intracellular and extracellular mutation occurs with EGFR amplification. There was no significant difference between the ratio of intracellular mutations and extracellular mutations with EGFR amplification (P=0.3496). Conclusions: In our GBM patients, EGFR activating mutations were accompanied by high-fold EGFR amplification. As we know that, GBM benefit from EGFR-TKIs may be limited. Therefore, multi-targeted combination therapy research could be considered in the future.

scholarly journals Head and neck osteosarcoma: CT and MR imaging features

2020 ◽  
Vol 49 (2) ◽  
pp. 20190202
Author(s):  
Zhendong Luo ◽  
Weiguo Chen ◽  
Xinping Shen ◽  
Genggeng Qin ◽  
Jianxiang Yuan ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Head And Neck ◽  
Giant Cell ◽  
High Signal ◽  
Imaging Features ◽  
Matrix Mineralization ◽  
Imaging Characteristics ◽  
Mri Features ◽  
Signal Intensities ◽  
Ct And Mri

Objective: This study aims to assess the CT and MRI features of head and neck osteosarcoma (HNO). Methods: 37 HNOs were identified, and the following imaging characteristics were reviewed on CT and MRI. Results: A total of 37 patients(age 41.5 ± 15.0 years old; 16 males, 21 females) were included in the study. Tumours occurred in the maxilla (16, 43.2%), mandible (8, 21.6%), skull base (6, 16.2%), calvarium (5, 13.5%), paranasal sinuses (1, 2.7%) and cervical soft tissue (1, 2.7%). 16 patients received radiotherapy for nasopharyngeal carcinoma. Three patients (8.1%) developed osteosarcomas related to a primary bone disease. 16 of the (43.2%) tumours demonstrated lytic density on CT scans, followed by 13 (35.1%) showing mixed density and 7 (18.9%) with sclerotic density. Matrix mineralization was present in 32 (86.5%). 3 out of 24 (12.5%) tumours showed lamellar periosteal reactions, 21 out of 24 (87.5%) showed spiculated periosteal reactions. 12 tumours showed low signal intensities on T1WI, with 16 having heterogeneous signal intensities. 10 tumours showed high signal intensities on T2WI, and 18 showed heterogeneous signal intensities. With contrast-enhanced images, 3 tumours showed homogeneous enhancement (2 osteoblastic and 1 giant cell-rich), 18 tumours showed heterogeneous enhancement (13 osteoblastic, 4 fibroblastic and 1 giant cell-rich), and 7 tumours showed peripheral enhancement (6 chondroblastic and 1 osteoblastic). These tumours were characterized by soft tissue masses with a diameter of 5.6 ± 1.8 cm. Conclusions: HNO is a rare condition and is commonly associated with previous radiation exposure. This study provides age, sex distribution, location, CT and MRI features of HNO.

scholarly journals Imaging features of hemangioma in long tubular bones

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Lei Cao ◽  
Jin-Xu Wen ◽  
Shu-Man Han ◽  
Hui-Zhao Wu ◽  
Zhi-Gang Peng ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Plain Radiograph ◽  
Ground Glass Opacity ◽  
Plain Radiography ◽  
Long Bone ◽  
Imaging Features ◽  
Mri Imaging ◽  
Soft Tissue Density ◽  
Tissue Density ◽  
Hyperintense Signal

Abstract Background To investigate the imaging features of hemangiomas in long tabular bones for better diagnosis. Methods Twenty-four patients with long bone hemangiomas confirmed by pathology were enrolled. Nineteen patients had plain radiography, fourteen patients had computed tomography (CT) and eleven had magnetic resonance imaging (MRI). The hemangioma was divided into medullary [13], periosteal [6] and intracortical type [5]. Results Among 19 patients with plain radiography, eleven patients were medullary, three periosteal, and five intracortical. In the medullary type, the lesion was primarily osteolytic, including five cases with irregular and unclear rims and one lesion having osteosclerotic and unclear rims. In three patients with the periosteal type, the lesion had clear rims with involvement of the cortical bone in the form of bone defect, including two cases with local thickened bone periosteum and one case having expansile periosteum. Five intracortical hemangiomas had intracortical osteolytic lesions with clear margins. Among 14 patients with CT imaging, 8 cases were medullary, three periosteal, and three intracortical. Among 8 medullary hemangiomas, one had ground glass opacity, and seven had osteolytic, expansile lesions like soft tissue density with no calcification. In three periosteal cases, the lesion was osteolytic with thickened periosteum and narrowed medullary cavity. In three intracortical hemangiomas, the lesion was of even soft tissue density with no calcification. Among 11 patients with MRI imaging, seven were medullary, two periosteal, and two intracortical. Among 7 medullary lesions, six were of hypointense signal on T1WI and hyperintensesignal on T2 WI. In two periosteal cases, the periosteum was thickened, with one case being of equal signal, and the other having no signal. Two intracortical hemangiomas were both of slightly low signal on T1WI but hyperintense signal on T2WI. Conclusions The long bone hemangiomas had characteristic cystic honeycomb-like presentations in plain radiograph. CT and MRI imagings are helpful for diagnosis of hemangiomas in long bone.

Hemorrhagic and nonhemorrhagic Rathke cleft cysts mimicking pituitary apoplexy

2008 ◽  
Vol 108 (1) ◽  
pp. 3-8 ◽  
Author(s):  
Mandy J. Binning ◽  
James K. Liu ◽  
John Gannon ◽  
Anne G. Osborn ◽  
William T. Couldwell
Keyword(s):  
Mr Imaging ◽  
Pituitary Tumor ◽  
Pituitary Apoplexy ◽  
Pituitary Tumors ◽  
Imaging Features ◽  
Mr Images ◽  
Acute Hemorrhage ◽  
Consistent Finding ◽  
Imaging Characteristics ◽  
Intracystic Hemorrhage

Object Rathke cleft cysts (RCCs) are infrequently symptomatic, and apoplexy is one of the most unusual presentations. Only a few cases of apoplexy associated with RCCs have been reported, and their clinical, imaging, surgical, and pathological features are poorly understood. In the cases that have been reported, intracystic hemorrhage has been a consistent finding. The authors report 6 cases of RCCs in which the presenting clinical and imaging features indicated pituitary apoplexy, both with and without intracystic hemorrhage. Methods The authors retrospectively reviewed charts and magnetic resonance (MR) imaging studies obtained in patients who underwent transsphenoidal surgery for RCC. Six patients were identified who presented with symptoms and MR imaging characteristics consistent with pituitary apoplexy but were found intraoperatively to have an RCC. All 6 patients presented with a sudden headache, 2 with visual loss, and 1 with diplopia. Review of the preoperative MR images demonstrated mixed signal intensities in the sellar masses suggestive of a hemorrhagic pituitary tumor. In all patients there was a presumed clinical diagnosis of pituitary tumor apoplexy and an imaging-documented diagnosis of hemorrhagic pituitary tumor. Results All 6 patients underwent transsphenoidal resection to treat the suspected pituitary apoplexy. Intraoperative and histopathological findings were consistent with the diagnosis of an RCC in all cases. Only 2 cases showed evidence of hemorrhage intraoperatively. In all cases, an intracystic nodule was found within the RCC at surgery, and this intracystic nodule was present on the initial MR imaging when retrospectively reviewed. The imaging characteristics of the intracystic nodules were similar to those of acute hemorrhage seen in cases of pituitary apoplexy. Conclusions The clinical and imaging features of RCCs appear similar to those of hemorrhagic pituitary tumors, making them often indistinguishable from pituitary apoplexy.

H3K27M-mutant Diffuse Midline Gliomas should be Further Molecularly Stratified: An Integrated Analysis of 669 Patients

2021 ◽  
Author(s):  
Huy Gia Vuong ◽  
Hieu Trong Le ◽  
Tam N.M. Ngo ◽  
Kar-Ming Fung ◽  
James D. Battiste ◽  
...  
Keyword(s):  
Cox Regression ◽  
Fatal Outcome ◽  
Extent Of Resection ◽  
Tumor Location ◽  
Genetic Alterations ◽  
Integrated Analysis ◽  
Prognostic Impact ◽  
Kaplan Meier ◽  
Hazard Ratios ◽  
The Impact

Abstract Introduction: H3K27M-mutated diffuse midline gliomas (H3-DMGs) are aggressive tumors with a fatal outcome. This study integrating individual patient data (IPD) from published studies aimed to investigate the prognostic impact of different genetic alterations on survival of these patients.Methods: We accessed PubMed and Web of Science to search for relevant articles. Studies were included if they have available data of follow-up and additional molecular investigation of H3-DMGs. For survival analysis, Kaplan-Meier analysis and Cox regression models were utilized, and corresponding hazard ratios (HR) and 95% confidence intervals (CI) were computed to analyze the impact of genetic events on overall survival (OS).Result: We included 30 studies with 669 H3-DMGs. TP53 mutations were the most common second alteration among these neoplasms. In univariate Cox regression model, TP53 mutation was an indicator of shortened survival (HR = 1.446; 95% CI = 1.143-1.829) whereas ACVR1 (HR = 0.712; 95% CI = 0.518-0.976) and FGFR1 mutations (HR = 0.408; 95% CI = 0.208-0.799) conferred prolonged survival. In addition, ATRX loss was also associated with a better OS (HR = 0.620; 95% CI = 0.386-0.996). Adjusted for age, gender, tumor location, and the extent of resection, the presence of TP53 mutations, the absence of ACVR1 or FGFR1 mutations remained significantly poor prognostic factors.Conclusions: We outlined the prognostic importance of additional genetic alterations in H3-DMGs and recommended that these neoplasms should be further molecularly segregated. It could help neuro-oncologists better evaluate the risk stratification of patients and consider pertinent treatments.

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