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BACKGROUND: In the dynamic realm of modern medicine, the advent of virtual reality technology heralds a transformative era, reshaping the contours of diagnosis and surgical planning with its immersive prowess. This study delves into the groundbreaking application of virtual reality in the intricate dance of neurosurgery, particularly spotlighting its role in the management of astrocytoma grade III-a cerebral challenge of significant complexity. CASE PRESENTATION: A 30-year-old Middle Eastern man from Syria grappled with the invisible tendrils of pain, manifesting as persistent headaches and a numbing sensation that crept into his neck and extremities. For two relentless months, the morning sun brought not hope but an intensification of his agony, rendering him unable to partake in the daily dance of life. The usual sentinels of relief, analgesic drugs, stood defeated, offering no respite. The neurological examination was normal, there were no pathological findings on sensory and motor examination, and he exhibited normal reflexes and neither meningeal nor cerebellar signs. He showed a family history of breast cancer. The initial foray into the enigmatic depths of his brain via computed tomography and magnetic resonance imaging imaging unveiled a finding in the right temporal lobe, a lesion that suggested something more sinister. Previous medical interventions included analgesic medications prescribed for persistent headaches, but they offered no relief. No other therapeutic interventions were administered prior to the current diagnosis. It was here that virtual reality technology emerged not as a mere tool but as a beacon of precision, casting a three-dimensional light on the shadowy intruder. This technological marvel allowed for meticulous measurement 21.8 × 14.5 mm and localization within the temporal theater, setting the stage for what was to come. With the path laid clear, the patient embarked on a surgical odyssey, a quest to excise the unwelcome guest. The operation was a triumph, a testament to human ingenuity and the symbiotic relationship between flesh and machine. The postoperative verdict was delivered through the lens of histopathology, confirming the presence of an astrocytoma grade III, a cerebral interloper known for its rapid proliferation. The battle, however, was far from over. Complementary radiotherapy and chemotherapy were enlisted as allies in this ongoing war, their potent forces working in concert to stave off the cellular insurgence. The patient's journey through the healing arts was charted by periodic clinical and neurological examinations, with laboratory tests and the vigilant gaze of brain magnetic resonance imaging ensuring a watchful eye was kept on any potential resurgence. CONCLUSIONS: In this narrative of resilience and technological prowess, we witness the harmonious fusion of human touch and digital precision, a partnership that redefines the boundaries of medicine and the art of healing, by use of virtual reality technology in the diagnosis of astrocytoma and enhancing the accuracy, effectiveness, and safety of neurosurgical procedures, which can ultimately benefit patients with brain tumors.
Assuntos
Astrocitoma , Neoplasias Encefálicas , Imageamento por Ressonância Magnética , Realidade Virtual , Humanos , Adulto , Masculino , Astrocitoma/cirurgia , Astrocitoma/diagnóstico por imagem , Astrocitoma/diagnóstico , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Tomografia Computadorizada por Raios X , Procedimentos Neurocirúrgicos/métodosRESUMO
OBJECTIVES: Seeking a noninvasive predictor for BRAF V600E mutation status of pleomorphic xanthoastrocytomas (PXAs) is essential for their prognoses and therapeutic use of BRAF inhibitors. We aimed to noninvasively diagnose BRAF V600E-mutated PXAs using MRI morphologic, DWI and clinical parameters. METHODS: The clinical findings, anatomical MRI characteristics, and diffusion parameters of 36 pathologically confirmed PXAs were retrospectively analyzed, and BRAF V600E-mutated (n = 16) and wild-type (n = 20) groups were compared. A binary logistic-regression analysis was performed, and a ROC curve was calculated to determine the independent predictors of BRAF V600E mutation status, diagnostic accuracy, and optimal cut-off value. RESULTS: A comparison of findings between groups showed that BRAF V600E-mutated PXAs were more frequent in children and young adults (≤ 35 years; P = 0.042) who often had histories of seizures (P = 0.004). Furthermore, BRAF V600E-mutated PXAs generally presented as solitary masses (P = 0.024), superficial locations with meningeal attachment (P < 0.001), predominantly cystic with mural nodules (P = 0.005), and had greater minimal ADC ratio (ADCratio) values of the tumor and peritumoral edema (P < 0.001). Binary logistic regression showed that age ≤ 35 years, solitary mass, superficial locations with meningeal attachment, and a greater minimal ADCratio of the tumor were independent predictors of BRAF V600E-mutated PXAs. The combination of all four independent predictors resulted in the highest sensitivity (100%) and specificity (90%), with AUC = 0.984. CONCLUSION: The BRAF V600E mutation status of PXAs could be noninvasively predicted using clinical and MRI characteristics. CRITICAL RELEVANCE STATEMENT: The noninvasive diagnostic criteria for BRAF V600E-mutated PXAs could offer guidance for the administration of BRAF V600E mutation inhibitors in the future.
Assuntos
Astrocitoma , Neoplasias Encefálicas , Imagem de Difusão por Ressonância Magnética , Mutação , Proteínas Proto-Oncogênicas B-raf , Humanos , Proteínas Proto-Oncogênicas B-raf/genética , Feminino , Masculino , Astrocitoma/genética , Astrocitoma/diagnóstico por imagem , Astrocitoma/patologia , Adulto , Imagem de Difusão por Ressonância Magnética/métodos , Criança , Adolescente , Estudos Retrospectivos , Adulto Jovem , Pessoa de Meia-Idade , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Pré-Escolar , Imageamento por Ressonância Magnética/métodos , Prognóstico , Curva ROCRESUMO
INTRODUCTION: The WHO classification of central nervous system tumors (5th edition) classified astrocytoma, IDH-mutant accompanied with CDKN2A/B homozygous deletion as WHO grade 4. Loss of immunohistochemical (IHC) staining for methylthioadenosine phosphorylase (MTAP) was developed as a surrogate marker for CDKN2A-HD. Identification of imaging biomarkers for CDKN2A status is of immense clinical relevance. In this study, we explored the association between radiological characteristics of non-enhancing astrocytoma, IDH-mutant to the CDKN2A/B status. METHODS: Thirty-one cases of astrocytoma, IDH-mutant with MTAP results by IHC were included in this study. The status of CDKN2A was diagnosed by IHC staining for MTAP in all cases, which was further confirmed by comprehensive genomic analysis in 12 cases. The T2-FLAIR mismatch sign, cystic component, calcification, and intratumoral microbleeding were evaluated. The relationship between the radiological features and molecular pathological diagnosis was analyzed. RESULTS: Twenty-six cases were identified as CDKN2A-intact while 5 cases were CDKN2A-HD. The presence of > 33% and > 50% T2-FLAIR mismatch was observed in 23 cases (74.2%) and 14 cases (45.2%), respectively, and was associated with CDKN2A-intact astrocytoma (p = 0.0001, 0.0482). None of the astrocytoma, IDH-mutant with CDKN2A-HD showed T2-FLAIR mismatch sign. Cystic component, calcification, and intratumoral microbleeding were not associated with CDKN2A status. CONCLUSION: In patients with non-enhancing astrocytoma, IDH-mutant, the T2-FLAIR mismatch sign is a potential imaging biomarker for the CDKN2A-intact subtype. This imaging biomarker may enable preoperative prediction of CDKN2A status among astrocytoma, IDH-mutant.
Assuntos
Astrocitoma , Neoplasias Encefálicas , Inibidor p16 de Quinase Dependente de Ciclina , Isocitrato Desidrogenase , Mutação , Humanos , Astrocitoma/genética , Astrocitoma/diagnóstico por imagem , Astrocitoma/patologia , Masculino , Feminino , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Isocitrato Desidrogenase/genética , Pessoa de Meia-Idade , Adulto , Inibidor p16 de Quinase Dependente de Ciclina/genética , Idoso , Imageamento por Ressonância Magnética/métodos , Purina-Núcleosídeo Fosforilase/genética , Biomarcadores Tumorais/genética , Adulto JovemRESUMO
BACKGROUND: The diagnosis of glioma has advanced since the release of the WHO 2021 classification with more molecular alterations involved in the integrated diagnostic pathways. Our study aimed to present our experience with the clinical features and management of astrocytoma, IDH mutant based on the latest WHO classification. METHODS: Patients diagnosed with astrocytoma, IDH-mutant based on the WHO 5th edition classification of CNS tumors at our center from January 2009 to January 2022 were included. Patients were divided into WHO 2-3 grade group and WHO 4 grade group. Integrate diagnoses were retrospectively confirmed according to WHO 2016 and 2021 classification. Clinical and MRI characteristics were reviewed, and survival analysis was performed. RESULTS: A total of 60 patients were enrolled. 21.67% (13/60) of all patients changed tumor grade from WHO 4th edition classification to WHO 5th edition. Of these, 21.43% (6/28) of grade II astrocytoma and 58.33% (7/12) of grade III astrocytoma according to WHO 4th edition classification changed to grade 4 according to WHO 5th edition classification. Sex (p = 0.042), recurrent glioma (p = 0.006), and Ki-67 index (p < 0.001) of pathological examination were statistically different in the WHO grade 2-3 group (n = 27) and WHO grade 4 group (n = 33). CDK6 (p = 0.004), FGFR2 (p = 0.003), and MYC (p = 0.004) alterations showed an enrichment in the WHO grade 4 group. Patients with higher grade showed shorter mOS (mOS = 75.9 m, 53.6 m, 26.4 m for grade 2, 3, and 4, respectively, p = 0.01). CONCLUSIONS: Patients diagnosed as WHO grade 4 according to the 5th edition WHO classification based on molecular alterations are more likely to have poorer prognosis. Therefore, treatment should be tailored to their individual needs. Further research is needed for the management of IDH-mutant astrocytoma is needed in the future.
Assuntos
Astrocitoma , Imageamento por Ressonância Magnética , Mutação , Gradação de Tumores , Organização Mundial da Saúde , Humanos , Astrocitoma/genética , Astrocitoma/classificação , Astrocitoma/patologia , Astrocitoma/diagnóstico por imagem , Masculino , Feminino , Estudos Retrospectivos , Pessoa de Meia-Idade , Adulto , Imageamento por Ressonância Magnética/métodos , Prognóstico , Isocitrato Desidrogenase/genética , Neoplasias do Sistema Nervoso Central/classificação , Neoplasias do Sistema Nervoso Central/genética , Neoplasias do Sistema Nervoso Central/patologia , Neoplasias do Sistema Nervoso Central/diagnóstico por imagem , Idoso , Adulto Jovem , Neoplasias Encefálicas/classificação , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/mortalidade , AdolescenteRESUMO
BACKGROUND AND PURPOSE: Radiological features on magnetic resonance imaging (MRI) were attributed to oligodendroglioma, although the diagnostic accuracy in a real-world clinical setting remains partially elusive. This study investigated the accuracy and robustness of tumor heterogeneity and tumor border delineation on T2-weighted MRI to distinguish oligodendroglioma from astrocytoma. MATERIALS AND METHODS: Eight readers from three different specialties (radiology, neurology, neurosurgery) with varying levels of experience blindly rated 79 T2-weighted MR images of patients with either oligodendroglioma or astrocytoma. After the first reading session, all readers were re-invited for a second reading session within three weeks. Diagnostic accuracy, including area under the receiver operator characteristics curve (AUC), and intra-observer variability and inter-observer variability were used as outcome measures. RESULTS: Pooled sensitivity and specificity to distinguish oligodendroglioma from astrocytoma for the use of tumor heterogeneity were 59.9 % respectively 74.5 %, and 85.7 % respectively 40.1 % for tumor border. A second reading session did not result in a significant change in sensitivity or specificity for tumor heterogeneity (P = 0.752 and P = 0.733, respectively) or tumor border (P = 0.309 and P = 0.271, respectively). An AUC of 0.825 was achieved with regard to predicting oligodendroglial origin of gliomas. Intra-observer agreement ranged from moderate to very good for tumor heterogeneity (kappa-value 0.43-0.87) and tumor border (0.40-0.84). A moderate inter-oberserver agreement was achieved for tumor heterogeneity and tumor border (kappa-value of 0.50 and 0.45, respectively). CONCLUSION: This study demonstrates that tumor heterogeneity and tumor borders on T2-weighted MRI could be used with moderate Finter-observer agreement to non-invasively distinguish oligodendroglioma from astrocytoma.
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Astrocitoma , Neoplasias Encefálicas , Imageamento por Ressonância Magnética , Oligodendroglioma , Sensibilidade e Especificidade , Humanos , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Oligodendroglioma/diagnóstico por imagem , Oligodendroglioma/patologia , Astrocitoma/diagnóstico por imagem , Astrocitoma/patologia , Diagnóstico Diferencial , Imageamento por Ressonância Magnética/métodos , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Reprodutibilidade dos Testes , Variações Dependentes do Observador , IdosoRESUMO
INTRODUCTION: High grade astrocytic glioma (HGG) is a lethal solid malignancy with high recurrence rates and limited survival. While several cytotoxic agents have demonstrated efficacy against HGG, drug sensitivity testing platforms to aid in therapy selection are lacking. Patient-derived organoids (PDOs) have been shown to faithfully preserve the biological characteristics of several cancer types including HGG, and coupled with the experimental-analytical hybrid platform Quadratic Phenotypic Optimization Platform (QPOP) which evaluates therapeutic sensitivity at a patient-specific level, may aid as a tool for personalized medical decisions to improve treatment outcomes for HGG patients. METHODS: This is an interventional, non-randomized, open-label study, which aims to enroll 10 patients who will receive QPOP-guided chemotherapy at the time of first HGG recurrence following progression on standard first-line therapy. At the initial presentation of HGG, tumor will be harvested for primary PDO generation during the first biopsy/surgery. At the point of tumor recurrence, patients will be enrolled onto the main study to receive systemic therapy as second-line treatment. Subjects who undergo surgery at the time of recurrence will have a second harvest of tissue for PDO generation. Established PDOs will be subject to QPOP analyses to determine their therapeutic sensitivities to specific panels of drugs. A QPOP-guided treatment selection algorithm will then be used to select the most appropriate drug combination. The primary endpoint of the study is six-month progression-free survival. The secondary endpoints include twelve-month overall survival, RANO criteria and toxicities. In our radiological biomarker sub-study, we plan to evaluate novel radiopharmaceutical-based neuroimaging in determining blood-brain barrier permeability and to assess in vivo drug effects on tumor vasculature over time. TRIAL REGISTRATION: This trial was registered on 8th September 2022 with ClinicalTrials.gov Identifier: NCT05532397.
Assuntos
Neoplasias Encefálicas , Recidiva Local de Neoplasia , Humanos , Recidiva Local de Neoplasia/tratamento farmacológico , Recidiva Local de Neoplasia/patologia , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/diagnóstico por imagem , Astrocitoma/tratamento farmacológico , Astrocitoma/patologia , Astrocitoma/diagnóstico por imagem , Organoides/efeitos dos fármacos , Organoides/patologia , Organoides/diagnóstico por imagem , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Gradação de TumoresRESUMO
OBJECTIVES: To elucidate the relationship between DNA methylation profiling (DMP) and pathological diagnosis (PD) in pediatric glial and glioneuronal tumors with B-Raf proto-oncogene, serine/threonine kinase (BRAF) mutations, addressing their diagnostic challenges. METHODS: This retrospective study, conducted in Saudi Arabia, analyzed 47 cases from the Children's Brain Tumor Network online database using scanned images, next-generation sequencing data, and methylation profiles processed using the Heidelberg methylation brain tumor classifiers v12.5 and v12.8. The data was last access on 10 November 2023. RESULTS: The highest prevalence of BRAF mutations was observed in pilocytic astrocytoma and ganglioglioma. The DMP was consistent with PD in 23 cases, but discrepancies emerged in others, including diagnostic changes in diffuse leptomeningeal glioneuronal tumor and polymorphous low-grade neuroepithelial tumor of the young. A key inconsistency appeared between a pilocytic astrocytoma MC and a glioneuronal tumor PD. Two high-grade astrocytomas were misclassified as pleomorphic xanthoastrocytomas. Additionally, low variant allelic frequency in gangliogliomas likely contributed to misclassifications as control in 5 cases. CONCLUSION: This study emphasized the importance of integrating DMP with PD in diagnosing pediatric glial and glioneuronal tumors with BRAF mutations. Although DMP offers significant diagnostic insights, its limitations, particularly in cases with low tumor content, necessitate cautious interpretation, as well as its use as a complementary diagnostic tool, rather than a definitive method.
Assuntos
Neoplasias Encefálicas , Metilação de DNA , Mutação , Proto-Oncogene Mas , Proteínas Proto-Oncogênicas B-raf , Humanos , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/diagnóstico por imagem , Criança , Masculino , Feminino , Metilação de DNA/genética , Estudos Retrospectivos , Pré-Escolar , Ganglioglioma/genética , Ganglioglioma/patologia , Ganglioglioma/diagnóstico por imagem , Adolescente , Glioma/genética , Glioma/patologia , Glioma/diagnóstico , Astrocitoma/genética , Astrocitoma/patologia , Astrocitoma/diagnóstico por imagem , Astrocitoma/diagnóstico , Lactente , Arábia SauditaRESUMO
RATIONALE AND OBJECTIVES: Various methods exist to perform and post-process perfusion weighted MR imaging in the post-treatment imaging of glioma patients to differentiate tumor progression from tumor-related abnormalities. One of these post-processing methods produces 'fractional tumor burden' maps. This multi-reader study investigated the clinical feasibility of fractional tumor burden maps on real world data from radiological follow-up of high-grade astrocytoma patients. METHODS: Five readers with background in radiology and varying levels of experience were tasked with assessing 30 astrocytoma and glioblastoma patients during one reader session. First, they were provided with a dataset of conventional MRI sequences, including perfusion MRI with regional cerebral blood volume maps. Then the dataset was expanded with a corresponding fractional tumor burden maps. Diagnostic accuracy, duration of post-processing, duration of the assessment of the fractional tumor burden maps, the diagnostic confidence reported by the readers and their diagnoses were recorded. Final diagnosis was determined by clinical and radiological follow-up and/or histopathological data used as gold standard. RESULTS: A mean sensitivity of 83.3 % and mean specificity of 55.1 % was obtained without the use of fractional tumor burden maps, whereas their additional of fractional tumor burden maps resulted in a mean sensitivity and specificity of 79.5 % and 54.2 %, respectively. Diagnostic accuracies with and without fractional tumor burden maps were not significantly different (Z = 0.76, p = 0.450). The median time spent post-processing was 313 s, while the median duration of the assessment of the FTB maps was 19 s. Interestingly, reader confidence increased significantly after adding the fractional tumor burden-maps to the assessment (Z = 454, p < 0.01). CONCLUSIONS: While the use of fractional tumor burden maps does not carry additional value in the radiological follow-up of post-operative high-grade astrocytoma and glioblastoma patients, it does give readers more confidence in their diagnosis.
Assuntos
Neoplasias Encefálicas , Sensibilidade e Especificidade , Carga Tumoral , Humanos , Neoplasias Encefálicas/diagnóstico por imagem , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Idoso , Angiografia por Ressonância Magnética/métodos , Astrocitoma/diagnóstico por imagem , Reprodutibilidade dos Testes , Interpretação de Imagem Assistida por Computador/métodos , Glioblastoma/diagnóstico por imagemRESUMO
INTRODUCTION: Pilocytic astrocytoma is a low-grade glioma more frequently seen in patients <20. It is pretty uncommon in the spinal cord. Rarely, astrocytoma may involve the most or total length of the spinal cord; in that case, they are called "holo-cord astrocytoma." In this case report, we are reporting the third holo-cord pilocytic astrocytoma in an adult patient and the first with an extension to the Magendie foramen. CASE PRESENTATION: We presented a 24-year-old woman with complaints of progressively worsening neck and back pain since one year ago. The patient's MRI showed a very large intradural and intramedullary cystic lesion with a solid component within the spinal cord extending from the medulla to the conus medullaris. Partial resection of the solid part of the cervical portion of the tumor was performed. Histopathological evaluation of the resected tumor segments was compatible with grade I pilocytic astrocytoma. After one year of follow-up, neck and back pain has reduced, and neurological functions have improved. CONCLUSION: Spinal cord pilocytic astrocytoma may present as a holo-cord tumor and can rarely extend to the intracranial fossa. Although this tumor does not arise from the central canal, in this case, it was extended through the Magendie foramen. Symptoms could be subtle despite extensive cord involvement. On MRI, this tumor presents as an intramedullary holo-cord cystic lesion intermixed with a solid component with a variable enhancement of the solid component.
Assuntos
Astrocitoma , Imageamento por Ressonância Magnética , Neoplasias da Medula Espinal , Humanos , Astrocitoma/diagnóstico por imagem , Astrocitoma/cirurgia , Feminino , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/patologia , Neoplasias da Medula Espinal/cirurgia , Neoplasias da Medula Espinal/diagnóstico , Adulto Jovem , AdultoRESUMO
PURPOSE: The presurgical discrimination of IDH-mutant astrocytoma grade 4 from IDH-wildtype glioblastoma is crucial for patient management, especially in younger adults, aiding in prognostic assessment, guiding molecular diagnostics and surgical planning, and identifying candidates for IDH-targeted trials. Despite its potential, the full capabilities of DSC-PWI remain underexplored. This research evaluates the differentiation ability of relative-cerebral-blood-volume (rCBV) percentile values for the enhancing and non-enhancing tumor regions compared to the more commonly used mean or maximum preselected rCBV values. METHODS: This retrospective study, spanning 2016-2023, included patients under 55 years (age threshold based on World Health Organization recommendations) with grade 4 astrocytic tumors and known IDH status, who underwent presurgical MR with DSC-PWI. Enhancing and non-enhancing regions were 3D-segmented to calculate voxel-level rCBV, deriving mean, maximum, and percentile values. Statistical analyses were conducted using the Mann-Whitney U test and AUC-ROC. RESULTS: The cohort consisted of 59 patients (mean age 46; 34 male): 11 astrocytoma-4 and 48 glioblastoma. While glioblastoma showed higher rCBV in enhancing regions, the differences were not significant. However, non-enhancing astrocytoma-4 regions displayed notably higher rCBV, particularly in lower percentiles. The 30th rCBV percentile for non-enhancing regions was 0.705 in astrocytoma-4, compared to 0.458 in glioblastoma (p = 0.001, AUC-ROC = 0.811), outperforming standard mean and maximum values. CONCLUSION: Employing an automated percentile-based approach for rCBV selection enhances differentiation capabilities, with non-enhancing regions providing more insightful data. Elevated rCBV in lower percentiles of non-enhancing astrocytoma-4 is the most distinguishable characteristic and may indicate lowly vascularized infiltrated edema, contrasting with glioblastoma's pure edema.
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Astrocitoma , Neoplasias Encefálicas , Glioblastoma , Humanos , Glioblastoma/diagnóstico por imagem , Glioblastoma/patologia , Glioblastoma/cirurgia , Masculino , Astrocitoma/diagnóstico por imagem , Astrocitoma/cirurgia , Astrocitoma/patologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/cirurgia , Feminino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto , Gradação de Tumores , Diagnóstico Diferencial , Imageamento por Ressonância Magnética/métodos , Volume Sanguíneo Cerebral , Cuidados Pré-Operatórios/métodosRESUMO
OBJECTIVE: Establish the evolution of the connectome before and after resection of motor area glioma using a comparison of connectome maps and high-definition differential tractography (DifT). METHODS: DifT was done using normalized quantitative anisotropy (NQA) with DSI Studio. The quantitative analysis involved obtaining mean NQA and fractional anisotropy (FA) values for the disrupted pathways tracing the corticospinal tract (CST), and white fiber network changes over time. RESULTS: We described the baseline tractography, DifT, and white matter network changes from two patients who underwent resection of an oligodendroglioma (Case 1) and an IDH mutant astrocytoma, grade 4 (Case 2). CASE 1: There was a slight decrease in the diffusion signal of the compromised CST in the immediate postop. The NQA and FA values increased at the 1-year follow-up (0.18 vs. 0.32 and 0.35 vs. 0.44, respectively). CASE 2: There was an important decrease in the immediate postop, followed by an increase in the follow-up. In the 1-year follow-up, the patient presented with radiation necrosis and tumor recurrence, increasing NQA from 0.18 in the preop to 0.29. Fiber network analysis: whole-brain connectome comparison demonstrated no significant changes in the immediate postop. However, in the 1-year follow up there was a notorious reorganization of the fibers in both cases, showing the decreased density of connections. CONCLUSIONS: Connectome studies and DifT constitute new potential tools to predict early reorganization changes in a patient's networks, showing the brain plasticity capacity, and helping to establish timelines for the progression of the tumor and treatment-induced changes.
Assuntos
Neoplasias Encefálicas , Conectoma , Imagem de Tensor de Difusão , Estudos de Viabilidade , Glioma , Humanos , Imagem de Tensor de Difusão/métodos , Conectoma/métodos , Neoplasias Encefálicas/cirurgia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Glioma/cirurgia , Glioma/diagnóstico por imagem , Glioma/patologia , Masculino , Pessoa de Meia-Idade , Adulto , Córtex Motor/diagnóstico por imagem , Córtex Motor/cirurgia , Córtex Motor/fisiopatologia , Tratos Piramidais/diagnóstico por imagem , Feminino , Oligodendroglioma/cirurgia , Oligodendroglioma/diagnóstico por imagem , Oligodendroglioma/patologia , Astrocitoma/cirurgia , Astrocitoma/diagnóstico por imagem , Astrocitoma/patologiaRESUMO
A late adolescent with tuberous sclerosis (TS) presented with reduced vision in one eye to our tertiary care university hospital 4 years ago. Fundus examination revealed multiple retinal astrocytic hamartomas (RAHs) in both eyes. His younger sibling, who also had TS, was found to have RAH on retinal screening. The swept-source optical coherence tomography (SS-OCT) findings were typical of RAH. We further noted that some of the RAH lesions showed segmental whitening of the outer walls of the arterioles, which traversed through them. The segmental whitening may suggest the enveloping of normal retinal vessels by the tumour. En-face and B-scan SS-OCT angiography of patients with TS showed vascularity within the tumour. The vessels within the tumour appeared to be in continuity with the retinal vasculature. Both siblings were reviewed annually. At the end of 4 years, there was no change in visual acuity, tumour size, number, vascularity and behaviour.
Assuntos
Astrocitoma , Fundo de Olho , Neoplasias da Retina , Irmãos , Tomografia de Coerência Óptica , Esclerose Tuberosa , Humanos , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Masculino , Astrocitoma/diagnóstico , Astrocitoma/complicações , Astrocitoma/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/diagnóstico por imagem , Adolescente , Seguimentos , Angiofluoresceinografia/métodos , Acuidade VisualRESUMO
Subependymal giant cell astrocytoma (SEGA) is a rare circumscribed astrocytic glioma that occurs in approximately 25% of all tuberous sclerosis (TSC) cases. Herein, we discuss an atypical presentation of SEGA, including the genetic alterations, impact on clinical presentation, and the determinants of each medical and surgical treatment option. A 14-year-old girl presented with intermittent headache and a right intraventricular mass originating near the foramen of Monro. The tumor's proximity to critical structures necessitated maximum safe resection, which improved her symptoms. Histological findings indicated SEGA, and genetic sequencing revealed a TSC2 mutation. However, complete clinical and radiological evaluations failed to reveal TSC. Two months later, a new subependymal nodule was incidentally found. She had a recurrent left occipital horn lesion and diffuse smooth leptomeningeal enhancement with no spine drop metastases. She was administered everolimus as the tumor was considered unresectable. Subsequent imaging revealed a reduction in both residual and new lesions.
Assuntos
Astrocitoma , Mutação , Proteína 2 do Complexo Esclerose Tuberosa , Humanos , Feminino , Astrocitoma/genética , Astrocitoma/diagnóstico por imagem , Astrocitoma/patologia , Proteína 2 do Complexo Esclerose Tuberosa/genética , Adolescente , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Esclerose Tuberosa/genética , Esclerose Tuberosa/diagnóstico por imagem , Esclerose Tuberosa/complicaçõesRESUMO
BACKGROUND AND PURPOSE: T2-FLAIR mismatch is a highly specific imaging biomarker of IDH-mutant diffuse astrocytoma in adults. It has however also been described in MYB/MYBL1-altered low grade tumors. Our aim was to assess the diagnostic power of the T2-FLAIR mismatch in IDH-mutant astrocytoma and MYB/MYBL1-altered low-grade tumors in children and correlate this mismatch with histology. MATERIALS AND METHODS: We evaluated MR imaging examinations of all pediatric patients, performed at the Princess Máxima Center for Pediatric Oncology and the University Medical Center Utrecht between January 2012 and January 2023, with the histomolecular diagnosis of IDH-mutant astrocytoma, diffuse astrocytoma MYB/MYBL1-altered, or angiocentric glioma, and the presence of T2-FLAIR mismatch was assessed. Histologically, the presence of microcysts in the tumor (a phenomenon suggested to be correlated with T2-FLAIR mismatch in IDH-mutant astrocytomas in adults) was evaluated. RESULTS: Nineteen pediatric patients were diagnosed with either IDH-mutant astrocytoma (n = 8) or MYB/MYBL1-altered tumor (n = 11: diffuse astrocytoma, MYB- or MYBL1-altered n = 8; or angiocentric glioma n = 3). T2-FLAIR mismatch was present in 11 patients, 3 (38%) in the IDH-mutant group and 8 (73%) in the MYB/MYBL1 group. No correlation was found between T2-FLAIR mismatch and the presence of microcysts or an enlarged intercellular space in either IDH-mutant astrocytoma (P = .38 and P = .56, respectively) or MYB/MYBL1-altered tumors (P = .36 and P = .90, respectively). CONCLUSIONS: In our pediatric population, T2-FLAIR mismatch was more often found in MYB/MYBL1-altered tumors than in IDH-mutant astrocytomas. In contrast to what has been reported for IDH-mutant astrocytomas in adults, no correlation was found with microcystic changes in the tumor tissue. This finding challenges the hypothesis that such microcystic changes and/or enlarged intercellular spaces in the tissue of these tumors are an important part of explaining the occurrence of the T2-FLAIR mismatch.
Assuntos
Astrocitoma , Neoplasias Encefálicas , Glioma , Imageamento por Ressonância Magnética , Proteínas Proto-Oncogênicas c-myb , Humanos , Astrocitoma/diagnóstico por imagem , Astrocitoma/genética , Astrocitoma/patologia , Criança , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Masculino , Feminino , Adolescente , Pré-Escolar , Glioma/diagnóstico por imagem , Glioma/genética , Glioma/patologia , Imageamento por Ressonância Magnética/métodos , Proteínas Proto-Oncogênicas c-myb/genética , Transativadores/genética , Biomarcadores Tumorais/genética , Isocitrato Desidrogenase/genética , Lactente , Mutação , Estudos Retrospectivos , Proteínas Proto-OncogênicasRESUMO
OBJECTIVE: Cerebellar pilocytic astrocytomas (cPAs) in childhood have long been recognized to have a good prognosis after total resection, but the outcome after incomplete resective surgery remains largely unpredictable, with the incidence of radiological progressive disease ranging from 18% to 100%. It has been traditionally thought that gross-total resection was required for long-term survival, and small residuals were classically resected in a subsequent operation. METHODS: The authors analyzed their pediatric low-grade glioma (PLGG) database for cases treated between 1985 and 2020 and filtered for intracranial PAs, to determine what clinical or radiological factors precipitated revisional resective surgery in their single quaternary care center cohort. RESULTS: Using the pediatric low-grade glioma database, 283 patients were identified to have a histopathological diagnosis of intracranial PA between 1985 and 2020, of which 200 lesions were within the cerebellum (70.7%). The majority of patients with cPA were between 1 and 10 years of age (n = 145, 72.5%) without gender predominance (M/F = 99:101), usually presenting with 1 lesion (n = 197, 98.5%). Gross-total resection was achieved in 74.5% (n = 149) of initial surgeries for cPA. In patients with subtotal resection, the mean largest diameter of the postoperative residual tumor was 1.06 cm (range 0-2.95 cm). Seven patients with subtotal resection did not require a second resective intervention. In 31 patients the neuro-oncology multidisciplinary team recommended a second resection at a mean time interval of 22.9 months (range 0.13-81.6 months) from the initial surgery. Proportionally, the children who underwent multiple resections were also more likely to receive adjuvant chemo/radiotherapy. Functionally, the children in the multiple operation cohort experienced more complications of therapy including ongoing endocrinopathy, treatment-associated hearing deficit, and neurocognitive deficits. CONCLUSIONS: Residual disease in cPA should be maintained under clinicocoradiological surveillance postoperatively with adoption of a more conservative approach when residual disease is not significantly changing over time.
Assuntos
Astrocitoma , Neoplasias Cerebelares , Reoperação , Humanos , Astrocitoma/cirurgia , Astrocitoma/diagnóstico por imagem , Criança , Feminino , Masculino , Pré-Escolar , Neoplasias Cerebelares/cirurgia , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/patologia , Lactente , Adolescente , Procedimentos Neurocirúrgicos/métodos , Resultado do Tratamento , Estudos Retrospectivos , Neoplasia Residual/cirurgia , Bases de Dados FactuaisAssuntos
Astrocitoma , Neoplasias do Ventrículo Cerebral , Quarto Ventrículo , Humanos , Astrocitoma/diagnóstico por imagem , Astrocitoma/cirurgia , Astrocitoma/patologia , Astrocitoma/diagnóstico , Quarto Ventrículo/diagnóstico por imagem , Quarto Ventrículo/patologia , Quarto Ventrículo/cirurgia , Neoplasias do Ventrículo Cerebral/cirurgia , Neoplasias do Ventrículo Cerebral/diagnóstico por imagem , Neoplasias do Ventrículo Cerebral/patologia , Neoplasias do Ventrículo Cerebral/diagnóstico , Masculino , FemininoRESUMO
BACKGROUND: Several studies have been published comparing deep learning (DL)/machine learning (ML) to radiologists in differentiating PCNSLs from GBMs with equivocal results. We aimed to perform this meta-analysis to evaluate the diagnostic accuracy of ML/DL versus radiologists in classifying PCNSL versus GBM using MRI. METHODOLOGY: The study was performed in accordance with PRISMA guidelines. Data was extracted and interpreted by two researchers with 12 and 23 years' experience, respectively, and QUADAS-2 tool was used for quality and risk-bias assessment. We constructed contingency tables to derive sensitivity, specificity accuracy, summary receiver operating characteristic (SROC) curve, and the area under the curve (AUC). RESULTS: Our search identified 11 studies, of which 8 satisfied our inclusion criteria and restricted the analysis in each study to reporting the model showing highest accuracy, with a total sample size of 1159 patients. The random effects model showed a pooled sensitivity of 0.89 [95% CI:0.84-0.92] for ML and 0.82 [95% CI:0.76-0.87] for radiologists. Pooled specificity was 0.88 [95% CI: 0.84-0.91] for ML and 0.90 [95% CI: 0.81-0.95] for radiologists. Pooled accuracy was 0.88 [95% CI: 0.86-0.90] for ML and 0.86 [95% CI: 0.78-0.91] for radiologists. Pooled AUC of ML was 0.94 [95% CI:0.92-0.96]and for radiologists, it was 0.90 [95% CI: 0.84-0.93]. CONCLUSIONS: MRI-based ML/DL techniques can complement radiologists to improve the accuracy of classifying GBMs from PCNSL, possibly reduce the need for a biopsy, and avoid any unwanted neurosurgical resection of a PCNSL.