Brain CT Research Articles

Learning Application Model of Head CT Scan Image Evaluation for Health Human Resource Capacity Building

Learning Application Model of Head CT Scan Image Evaluation for Health Human Resource Capacity Building

Enhanced Compression Medical Image Speed for Computed Radiography

In recent years, there has been a significant surge in the volume of medical imaging data. This surge poses challenges for the functioning of PACS communication systems and image archiving. The most effective solution to address this issue involves compressing images through digital encryption, which optimally utilizes storage space. This process involves reformatting the imaging data by reducing redundancy, leading to image compression. While this reduction in redundancy is readily apparent in individual images, there is a vulnerability in these methods that tends to overlook a source of repetition present in similar stored images. To emphasize this common occurrence, we introduce the term "redundancy group." Similar images are frequently encountered within medical image databases, resulting in a considerable redundancy reduction. In this paper, our focus is on enhancing the control of redundancy extraction in the data used, specifically medical images. To enhance the compression efficiency of standard image compression, we employ improved methods, namely MinMax Predictive (MMP) and Min-Max Differential (MMD). Our experiments demonstrate that these methods lead to a substantial enhancement in brain CT compression, with potential improvements of up to 130% when using Huffman coding. Similar improvements are observed in arithmetic coding, with a 94% improvement compared to the number-arithmetic code and a 37% improvement compared to the Lempel-Ziv compression. These improvements occur when combining the MMP technology with the MMD technology, utilizing inverse operations that result in lossless compression.

Role of T2* GRE MRI Sequence in Detecting Cerebral Microbleeds in Hypertensive Patients Presenting with Intra Cerebral Hemorrhage

OBJECTIVES Examine the efficacy of T2* gradient echo in detecting Cerebral microbleeds (CMBs) among hypertensive patients, emphasizing its efficiency in acquisition time. Evaluate its potential as an alternative to susceptibility-weighted imaging (SWI) in routine assessments for hypertensive individuals. METHODOLOGY A cross-sectional study from Sep 2021 to January 2023 was conducted at the Radiology Unit of Lady Reading Hospital Peshawar. Patients suspected of having a cerebrovascular accident (CVA) were referred from different units who had proven Intracerebral hemorrhage (ICH) on initial CT brain. The exclusion criteria were a history of recent trauma aneurysms/tumors on the present scan. The MRI examination included sequences like T1, T2, FLAIR, DWI/ADC, and T2*. The CMB was defined as a hypointense focus of signal drops out, measuring 5-10mm, with blooming artefact on T2* images and no surrounding edema. RESULTS62 patients were included in the study, with an equal proportion of males and females and age ranges between 46 to 78 years (62 ± 4.7). Forty-one cases had CMBs on T2* sequence in these 62 cases (66%), and 18 (44%) cases out of 41 were visible on T2WI. No significant correlation was seen between grades of CMBs and the location or size of the microbleed on Spearman’s test. CONCLUSION T2*GRE weighting can effectively detect CMBs compared to SWI. Therefore, this sequence could be employed in hospitals with increased workloads due to short acquisition time instead of the longer time for SWI.

Clinical Feasibility of CT Brain Perfusion in a Dog with Sellar Region Tumor

Clinical Feasibility of CT Brain Perfusion in a Dog with Sellar Region Tumor

Classification of recurrent depression using brain CT images through feature fusion

ObjectiveThe objective of the study is to address the issues of high workload and low diagnostic efficiency in clinical medicine by employing computer-aided diagnostic analysis methods. The focus is on the identification of depressed patients using medical image data, particularly brain CT images. MethodsThe study proposes a CT image classification method for identifying depression disorder based on deep learning theory. Key methods include migration learning and feature fusion. Preprocessing and data enhancement techniques are utilized to filter out unnecessary features. An attention module is employed to better extract deep feature information. Additionally, a binary classification focus loss function is applied to address the unbalanced distribution of the dataset. ResultsExperimental results indicate that the proposed method achieves an image classification accuracy of 97.79%. Compared to a single model, there is an increase in accuracy by 2.61% and 1.81%, respectively. This improvement effectively enhances the classification accuracy of brain CT images with depressive disorders. The classification model also demonstrates better generalization performance. ConclusionThe study concludes that the proposed CT image classification method, incorporating migration learning, feature fusion, preprocessing, and attention modules, significantly improves the accuracy and classification speed of identifying depressive disorders in brain CT images. The model's generalization performance is highlighted, providing effective support for the enhancement of medical image classification accuracy.

Cerebral Dermoid Cyst Ruptured Intraventricularly and in the Subarachnoid Spaces

The intrcranial dermoid cyst is a benign congenital tumor, which generally develops in the posterior fossa, extra-axially. Its spontaneous rupture represents a rare event, with a difficult clinical diagnosis, requiring the use of imaging. We report a case of a left frontal cerebral dermoid cyst spontaneously ruptured in the ipsilateral lateral ventricle and subarachnoid spaces which manifested by electric shock type headaches and diagnosed by brain CT.

Neurological diagnostic tests for patients with and without delirium: a prospective observational study.

Since most of the precipitating factors of delirium are not due to neurological disorders, neurological diagnostic tests (NDTs) may be of limited value. We hypothesized that delirium has a high burden of NDTs with a low diagnostic yield. All patients admitted to the internal medicine wards of a single secondary teaching hospital between November 2019 and January 2020 were eligible. Within the first 48 h of their admission, they had a formal evaluation by a neuropsychologist to screen for presence of delirium. NDTs (brain MRI, brain CT, electroencephalography (EEG), and lumbar puncture) performed during the hospital stay were compared between patients with and without delirium using a logistic regression model stratified by a propensity score. The proportions of diagnostic yield (acute anomalies that changed the treatment management) provided by each type of examination were compared. Of 217 patients included, 19/32 patients (61%) with delirium had one or more NDTs, compared to 48/185 (26%) without delirium (adjusted OR 2.7; 95%CI 1.1-6.7; p = 0.027). The proportions of NDT results affecting management for patients with and without delirium were 13 and 20% for brain CT scans (p = 0.71), 29 and 38% for brain MRI (p = 0.99), and 20 and 10% for EEGs (p = 0.99), respectively. The higher proportion of NDTs performed on patients with delirium was associated with a low diagnostic yield, although not statistically different from those performed among inpatients without delirium. There is a need for restrictive, evidence-based guidelines to help with the work-up for patients with delirium.

The Relationship between Vitamin D Serum Levels, Disease Severity, and Bleeding Volume in Patients with Intracerebral Hemorrhage

Background: Stroke is the main cause of death and disability worldwide. Intracerebral hemorrhage (ICH) is a subtype that contributes to 10 to 20% of all stroke events. Meanwhile, several studies in Indonesia show that the rates of vitamin D deficiency and insufficiency are still high, at 60.6% and 33.3% respectively in young adults. Several studies have shown vitamin D deficiency during hospital admission is a potential biomarker for poor functional outcomes in patients with acute ischemic stroke or ICH. This research aimed to analyze the relationship between serum vitamin D levels, disease severity, and bleeding volume of ICH patients. Methods: The study design was cross-sectional to assess the relationship between serum vitamin D levels, categorized as deficiency (<20 ng/mL), insufficiency (20-30 ng/mL), and normal (>30 ng/mL), with the severity of ICH as assessed by the NIHSS score and bleeding volume on head CT scans. Results: From a total of 31 patients, the Spearman correlation test of the relationship between vitamin D levels and NIHSS scores obtained a weak correlation (r=0.127; p=0.494). The Kruskal Wallis test showed that there was no significant difference in the mean value of NIHSS scores in the vitamin D level categories (p=0.310). The Spearman correlation test of the relationship between vitamin D levels and bleeding volume obtained a weak correlation with an (r=0.044; p=0.823). The Kruskal Wallis test showed there was no significant difference in the mean value of bleeding volume in the vitamin D level category (p=0.439). Conclusion: There is no relationship between serum vitamin D levels, disease severity, and bleeding volume in ICH patients. Further research is needed to analyze the relationship between vitamin D serum levels and the severity of ICH with a retrospective cohort study design and discuss the effect of vitamin D on long-term functional outcomes.

Radiomics and Deep Features: Robust Classification of Brain Hemorrhages and Reproducibility Analysis Using a 3D Autoencoder Neural Network.

This study evaluates the reproducibility of machine learning models that integrate radiomics and deep features (features extracted from a 3D autoencoder neural network) to classify various brain hemorrhages effectively. Using a dataset of 720 patients, we extracted 215 radiomics features (RFs) and 15,680 deep features (DFs) from CT brain images. With rigorous screening based on Intraclass Correlation Coefficient thresholds (>0.75), we identified 135 RFs and 1054 DFs for analysis. Feature selection techniques such as Boruta, Recursive Feature Elimination (RFE), XGBoost, and ExtraTreesClassifier were utilized alongside 11 classifiers, including AdaBoost, CatBoost, Decision Trees, LightGBM, Logistic Regression, Naive Bayes, Neural Networks, Random Forest, Support Vector Machines (SVM), and k-Nearest Neighbors (k-NN). Evaluation metrics included Area Under the Curve (AUC), Accuracy (ACC), Sensitivity (SEN), and F1-score. The model evaluation involved hyperparameter optimization, a 70:30 train-test split, and bootstrapping, further validated with the Wilcoxon signed-rank test and q-values. Notably, DFs showed higher accuracy. In the case of RFs, the Boruta + SVM combination emerged as the optimal model for AUC, ACC, and SEN, while XGBoost + Random Forest excelled in F1-score. Specifically, RFs achieved AUC, ACC, SEN, and F1-scores of 0.89, 0.85, 0.82, and 0.80, respectively. Among DFs, the ExtraTreesClassifier + Naive Bayes combination demonstrated remarkable performance, attaining an AUC of 0.96, ACC of 0.93, SEN of 0.92, and an F1-score of 0.92. Distinguished models in the RF category included SVM with Boruta, Logistic Regression with XGBoost, SVM with ExtraTreesClassifier, CatBoost with XGBoost, and Random Forest with XGBoost, each yielding significant q-values of 42. In the DFs realm, ExtraTreesClassifier + Naive Bayes, ExtraTreesClassifier + Random Forest, and Boruta + k-NN exhibited robustness, with 43, 43, and 41 significant q-values, respectively. This investigation underscores the potential of synergizing DFs with machine learning models to serve as valuable screening tools, thereby enhancing the interpretation of head CT scans for patients with brain hemorrhages.

Spontaneous posterior fossa hemorrhage: profile and functional outcome in patients attending Tanta stroke unit

BackgroundThe most dangerous and least curable type of stroke is spontaneous intracerebral hemorrhage (ICH), and prognosis is highly correlated with location and size in the posterior fossa. The objective of this work was to estimate the frequency of posterior fossa hemorrhage (PFH) in Tanta University Hospitals, as well as identify functional outcomes and mortality in PFH.MethodsThis study was performed on 33 posterior fossa hemorrhagic patients and 119 posterior ischemic stroke patients (PCIS) submitted to the CT brain and the MRI brain, using the following scales: GCS and NIHSS, and the intracerebral hemorrhage scale (ICH score).ResultsPosterior fossa hemorrhage (PFH) represents 16.83% of total hemorrhagic stroke in the ER. Vertigo and DCL are more common in PFH (60.6%, 48.4%) than in PCIS. 82% of PFH patients had hypertension (HTN) hemorrhage. The cerebellum is the most common site for PFH (48%), pontine (24%), thalamic (18%), and midbrain (9%). PFH had unfavorable outcomes in 55% of the studied patients; the MRS mean was 4; and 39% died in the follow-up.ConclusionPosterior fossa hemorrhage is a potentially serious neurovascular emergency associated with complex symptomatology. PFH demonstrates diverse prognoses depending on the location of the intracerebral hemorrhage and the size of the hematoma.

Craniocervical Morphometry in Pomeranians-Part II: Associations with Chiari-like Malformation and Syringomyelia.

The aim of Part II of this two-part study is to describe and analyze the association of various aspects and measurements related to the morphometry of the skull and craniocervical region to CM/SM status of Pomeranians, by means of computed tomography (CT) and magnetic resonance imaging (MRI). Prospectively, Pomeranians were included that underwent both CT and MRI studies of the head and cervicothoracic vertebral column. For those cases where qualitative classifications differed between observers, the experienced observer re-evaluated the studies and decided on a final classification that was used for further analysis. For quantitative measurements, the means of the observers' measurements were used for analysis. Among statistically significant differences in measurements, we found that dogs with SM had a significantly shorter clivus length based on both MRI (p = 0.01) and CT measurements (p = 0.01), and a significantly smaller caudal cranial fossa area based on both MRI (p = 0.02) and CT measurements (p = 0.02). Significant morphometrical differences were identified between dogs with or without CM/SM. The findings in this study add to those already described in other breeds and provide further insight into factors that may play a role in the pathogenesis of CM/SM in Pomeranians.

New objective simple evaluation methods of amyloid PET/CT using whole-brain histogram and Top20%-Map

ObjectiveThis study aims to assess the utility of newly developed objective methods for the evaluation of intracranial abnormal amyloid deposition using PET/CT histogram without use of cortical ROI analyses.MethodsTwenty-five healthy volunteers (HV) and 38 patients with diagnosed or suspected dementia who had undergone 18F-FPYBF-2 PET/CT were retrospectively included in this study. Out of them, 11C-PiB PET/CT had been also performed in 13 subjects. In addition to the conventional methods, namely visual judgment and quantitative analyses using composed standardized uptake value ratio (comSUVR), the PET images were also evaluated by the following new parameters: the skewness and the mode-to-mean ratio (MMR) obtained from the histogram of the brain parenchyma; Top20%-map highlights the areas with high tracer accumulation occupying 20% volume of the total brain parenchymal on the individual’s CT images. We evaluated the utility of the new methods using histogram compared with the visual assessment and comSUVR. The results of these new methods between 18F-FPYBF-2 and 11C-PiB were also compared in 13 subjects.ResultsIn visual analysis, 32, 9, and 22 subjects showed negative, border, and positive results, and composed SUVR in each group were 1.11 ± 0.06, 1.20 ± 0.13, and 1.48 ± 0.18 (p < 0.0001), respectively. Visually positive subjects showed significantly low skewness and high MMR (p < 0.0001), and the Top20%-Map showed the presence or absence of abnormal deposits clearly. In comparison between the two tracers, visual evaluation was all consistent, and the ComSUVR, the skewness, the MMR showed significant good correlation. The Top20%-Maps showed similar pattern.ConclusionsOur new methods using the histogram of the brain parenchymal accumulation are simple and suitable for clinical practice of amyloid PET, and Top20%-Map on the individual’s brain CT can be of great help for the visual assessment.

Synthetic CT generation based on multi-sequence MR using CycleGAN for head and neck MRI-only planning.

The purpose of this study is to investigate the influence of different magnetic resonance (MR) sequences on the accuracy of generating computed tomography (sCT) images for nasopharyngeal carcinoma based on CycleGAN. In this study, 143 patients' head and neck MR sequence (T1, T2, T1C, and T1DIXONC) and CT imaging data were acquired. The generator and discriminator of CycleGAN are improved to achieve the purpose of balance confrontation, and a cyclic consistent structure control domain is proposed in terms of loss function. Four different single-sequence MR images and one multi-sequence MR image were used to evaluate the accuracy of sCT. During the model testing phase, five testing scenarios were employed to further assess the mean absolute error, peak signal-to-noise ratio, structural similarity index, and root mean square error between the actual CT images and the sCT images generated by different models. T1 sequence-based sCT achieved better results in single-sequence MR-based sCT. Multi-sequence MR-based sCT achieved better results with T1 sequence-based sCT in terms of evaluation metrics. For metrological evaluation, the global gamma passage rate of sCT based on sequence MR was greater than 95% at 3%/3mm, except for sCT based on T2 sequence MR. We developed a CycleGAN method to synthesize CT using different MR sequences, this method shows encouraging potential for dosimetric evaluation.

Optic Nerve Sheath Diameter is not a predictor of functional outcomes in ICH Patients

Objectives: Optic nerve sheath diameter (ONSD) may serve as an early marker of increasing intracranial pressure resulting from intracerebral hemorrhage (ICH). We investigated if changes in ONSD can predict 90-day functional outcomes in ICH patients.Materials and Methods: We utilized ERICH (Ethnic/Racial Variations of Intracerebral Hemorrhage), a prospective, multi-center, case-control study of 3000 patients. We included patients with baseline and follow-up head CT with available outcomes. We measured change in ONSD from baseline and follow-up CT within a 6 (±1) hour window. Our primary outcome was the 90-day Modified Rankin (mRS) score. We compared patients with good (mRS 0-3) versus poor outcomes (mRS 4-6) to presence of significant change in ONSD using univariate analysis. We did an analysis of variance to assess for differences in ONSD.Results: Of 93 ICH patients who fit the inclusion criteria, the mean age was 64.1 (SD +/- 14.6), with 36.6 % being females. Forty-nine patients (47.1 %) had significant ONSD change between baseline and follow-up CT. ONSD change in the poor outcome group was not significantly different than that of the good outcome group in both the right and left hemispheres (p = 0.21 and p = 0.63 respectively).Conclusions: We found that early change in the ONSD within the first 6 h of presentation in patients with ICH does not predict functional outcomes at three months.

Spontaneous Intraventricular Tension Pneumocephalus

Here, we report a very rare case of spontaneous intraventricular tension pneumocephalus. This case concerns a 40-year-old patient with medical history of a tumor of the pineal region and a secondary hydrocephalus treated by multiple ventriculoperitoneal shunts. He presented in the emergency room because of unusual headaches, nausea, and visual loss. In addition, he reported slight rhinorrhea in the past few weeks. The initial brain computed tomography scan revealed a spontaneous intraventricular tension pneumocephalus. There was no history of recent head trauma and no sign of disconnection of the shunt system. A complementary radiologic assessment including a thin-slice bone computed tomography scan and a radioisotope cisternography revealed an osseous defect and an isotope leakage at the junction between the tegmen tympani and the squamous part of the left temporal bone. A middle cranial fossa surgery was performed to repair the osteo-meningeal breach.

Neuroradiological manifestations in hospitalized patients with COVID-19: An Italian national multicenter study on behalf of AINR (Associazione Italiana di Neuroradiologia) and SIRM (Società Italiana di Radiologia Medica).

This multicentric study aims to characterize and assess the occurrence of neuroradiological findings among patients with SARS-CoV-2 infection during the first Italian wave of the pandemic outbreak. Patients' data were collected between May 2020 and June 2020. Clinical and laboratory data, chest imaging, brain CT, and MRI imaging were included. Acquired data were centralized and analyzed in two hospitals: ASST Spedali Civili, Brescia, and IRRCS San Raffaele Research Hospital, Milan, Italy. COVID-19 patients were classified into two different subgroups, vascular and nonvascular. The vascular pattern was further divided into ischemic and hemorrhagic stroke groups. Four hundred and fifteen patients from 20 different Italian Centers were enrolled in the study. The most frequent symptom was focal neurological deficit, found in 143 patients (34.5%). The most frequent neuroradiological finding was ischemic stroke in 122 (29.4%) patients. Forty-four (10.6%) patients presented a cerebral hemorrhage. Forty-seven patients had non-stroke neuroimaging lesions (11.3%). The most common was PRES-like syndrome (28%), SWI hypointensities (22%), and encephalitis (19%). The stroke group had higher CAD risk (37.5% vs 20%, p = .016) and higher D-dimer levels (1875ng/mL vs 451ng/mL, p < .001) compared to the negative group. Our study describes the biggest cohort study in Italy on brain imaging of COVID-19 patients and confirms that COVID-19 patients are at risk of strokes, possibly due to a pro-thrombotic microenvironment. Moreover, apart from stroke, the other neuroradiological patterns described align with the ones reported worldwide.

The hidden threat: subdural empyema strikes a healthy teen

BackgroundThe incidence estimates for intracranial subdural empyema are 0.1 per 100,000 individuals, making it a rare clinical condition. It is a highly morbid and fatal illness that is most commonly the result of a primary infection somewhere else.Case presentationThe authors present a young male patient 15 years presented with 1 week history of headache, fever, confusion and seizure attack with initial negative CT head and nearly negative CSF analysis. With few days he developed left sided weakness. MRI brain showed right temporoparietal subdural fluid collection with midline shift. Urgent neurosurgical evacuation was made and revealed subdural empyema. The boy received combination therapy of vancomycin, ceftriaxone, and metronidazole. The culture of the pus was negative but 16S rRNA gene sequencing (bacterial) revealed streptococcus intermedius. He made a good recovery with no recollection or neurological deficit on follow up.ConclusionThis case highlights the possibility of occurrence of this rare infection in otherwise healthy individuals without obvious precipitating factor. It also indicates the superiority of MRI brain over CT head in detection of subdural collection. The rapid diagnosis and intervention improve the outcome of the patient.

OTHR-14. AN ADOLESCENT WITH A RARE SCHWANNOMA LOCALIZATION AND THE IMPORTANCE OF METHYLATION STUDIES

Abstract BACKGROUND Schwannomas are benign nerve sheath tumours, accounting for about 8% of intracranial tumours, with different histologic patterns described. Olfactory nerves are not expected to have Schwann cells, several theories exist about the origin of these tumours. METHODS/RESULTS A 16-year-old boy was admitted to the emergency department due to a first, self-limited, isolated epileptic event. He scored 15 in the GCS and no focal neurological deficits were observed. At that time, he complained about headaches, lasting for 3 months. Brain CT showed a frontobasal heterogeneous mass. MR characterized it as a 43X34X38 mm well-circumscribed mass, with solid and cystic areas, having an intimate relationship with lamina cribosa, with extensive vasogenic oedema surrounding it, causing deviation of adjacent structures. At that time, he was COVID-19 positive. He was submitted to a craniotomy with a transcortical approach, with an apparent total resection. Retrospectively, he became aware of an improved sense of smell after intervention. The histopathological study revealed a tumour composed of sheets and lobules of large, round cells showing immunopositivity for SOX-10 and S100 and with a Ki-67 index of 5-6%. We proceed to a molecular diagnosis, as the morphology was elusive, finding a methylation pattern highly close to those of schwannomas. With this presumptive diagnosis, clinical and radiological follow-up has been done. After two years, he is doing well, without signs of recurrence. CONCLUSIONS Although rare, an olfactory nerve schwannoma should be considered when there is a frontobasal tumour and impaired sense of smell, although in this case, the COVID-19 infection could be responsible for hyposmia. The clinical picture, imaging and histopathology description were not enough to make the diagnosis and, therefore, to plan the post-surgical approach. We emphasize the importance of a comprehensive molecular study, with a methylation classifier, as this tumour exhibits a typical DNA methylation pattern.

ETMR-21. PRIMARY DIFFUSE LEPTOMENINGEAL MELANOMATOSIS (PDLM) ASSOCIATED WITH INTRACRANIAL BLEEDING AND RAPID PROGRESSION IN A CHILD

Abstract BACKGROUND PDLM is a rare and aggressive disease with limited cases reported worldwide and few cases in the pediatric population. Herein we report on clinical, histologic, and molecular/genetic findings of a young child with PDLM and rapid clinical progression. CASE STUDY A 12-year-old right-handed male presented with two months of intermittent fevers, progressive frontal headaches, lethargy, vomiting, and weight loss, and one month of focal seizures with altered awareness, speech arrest, eye deviation, and tonic posturing. Examination revealed bilateral papilledema and signs of increased intracranial pressure. A brain CT demonstrated increased density of the anterosuperior right frontal lobe and punctate focus of increased density along the left frontal lobe suggestive of hemorrhage. MRI revealed diffuse leptomeningeal thickening and enhancement throughout the brain and spinal cord. At biopsy, the frontal lesion was noted to be grossly abnormal and discolored, and on pathology demonstrated a melanocytic neoplasm infiltrating the subarachnoid space and extending into Virchow-Robin spaces. Tumor cells stained strongly for HMB45, vimentin, Melan-A, and PRAME and were BRAFV600E negative. RNA sequencing was negative for structural variants, Whole exome sequencing revealed a Tier I missense variant in NRAS (c.181C&amp;gt;A) among other copy number variations and loss of heterozygosity. Comprehensive ophthalmologic and dermatologic examinations as well as whole body PET/CT did not reveal any other sites of disease. He was due to commence immunotherapy with combination PD-1/CTLA-4 inhibitors but developed status epilepticus and raised intracranial pressure, warranting ventriculoperitoneal shunt insertion. Three days later, he had further deterioration with altered level of consciousness, hypertension, eye deviation, and vomiting. CT brain revealed large bifrontal hematomas with mass effect and care was redirected to palliation. CONCLUSION PDLM can be challenging to diagnose with a rapidly progressive course. Advanced molecular diagnostics may provide new targets for precision therapy, though overall outcomes remain dismal.

OTHR-08. CLINICAL MANAGEMENT OF TWO PEDIATRIC CASES OF INTRACRANIAL MESENCHYMAL TUMORS WITH FET::CREB FUSIONS

Abstract BACKGROUND Intracranial mesenchymal tumors (IMTs) with FET::CREB fusion are a newly described provisional entity lacking standard management options. This group of neoplasms occur in children and young adults, and is molecularly characterized by a FET family gene (most commonly EWSR1, rarely FUS) fused with a CREB family transcription factor (ATF1, CREB1, or CREM). Histologically, the Ki-67 index is typically low (&amp;lt;5%) and only rarely elevated (15-20%). Treatment consists of surgical resection. Cases achieving gross total resection (GTR) are observed without adjuvant therapy, while subtotal resection (STR) is followed by radiation therapy. Regardless of resection status, patients are at risk for local recurrence. METHODS Case report. RESULTS We present two patients with IMTs harboring FET::CREB fusions. Patient 1 is a 12-year-old male with a known left choroid plexus lesion and hydrocephalus, who presented with acute loss of balance, headaches, and emesis. CT head revealed progression of the choroid plexus lesion with intraventricular hemorrhage and worsening hydrocephalus. Following GTR of the tumor, pathology revealed an IMT without high-grade features and a Ki-67 index of 5%. RNA-sequencing revealed an EWSR1::ATF1 fusion. In consideration of GTR and the tumor being low-grade, he is being followed with surveillance scans. Patient 2 is a 14-year-old male who presented with headaches and seizures and was found to have an enhancing left occipital lesion on MRI. Following GTR, pathology revealed an IMT with abundant mitotic figures (15 per 10 high power fields), increased Ki-67 index of 30-40%, and a FUS::CREM fusion. Due to the high-grade histopathology, he was treated with focal proton beam radiotherapy (5400 cGyRBE). An MRI three months post-therapy was negative for tumor recurrence. CONCLUSIONS We describe two adolescents with IMTs harboring FET::CREB fusions and their management, including one with high-grade histology managed with upfront radiation therapy, which has not been previously reported in the literature.