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PURPOSE: Regorafenib is a multikinase inhibitor, approved as a preferred regimen for recurrent glioblastoma (rGB). Although its effects on prolonging survival could seem modest, it is still unclear whether a subset of patients, potentially identifiable by imaging biomarkers, might experience a more substantial positive effect. Our aim was to evaluate the potential value of magnetic resonance imaging-derived parameters as non-invasive biomarkers to predict response to regorafenib in patients with rGB. METHODS: 20 patients with rGB underwent conventional and advanced MRI at diagnosis (before surgery), at recurrence and at first follow-up (3 months) during regorafenib. Maximum relative cerebral blood volume (rCBVmax) value, intra-tumoral susceptibility signals (ITSS), apparent diffusion coefficient (ADC) values, and contrast-enhancing tumor volumes were tested for correlation with response to treatment, progression-free survival (PFS), and overall survival (OS). Response at first follow-up was assessed according to Response Assessment in Neuro-Oncology (RANO) criteria. RESULTS: 8/20 patients showed stable disease at first follow-up. rCBVmax values of the primary glioblastoma (before surgery) significantly correlated to treatment response; specifically, patients with stable disease displayed higher rCBVmax compared to progressive disease (p = 0.04, 2-group t test). Moreover, patients with stable disease showed longer PFS (p = 0.02, 2-group t test) and OS (p = 0.04, 2-group t test). ITSS, ADC values, and contrast-enhancing tumor volumes showed no correlation with treatment response, PFS nor OS. CONCLUSION: Our results suggest that rCBVmax of the glioblastoma at diagnosis could serve as a non-invasive biomarker of treatment response to regorafenib in patients with rGB.
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Neoplasias Encefálicas , Glioblastoma , Humanos , Glioblastoma/diagnóstico por imagem , Glioblastoma/tratamento farmacológico , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/tratamento farmacológico , Imageamento por Ressonância Magnética/métodos , Imagem de Difusão por Ressonância Magnética/métodos , Biomarcadores , Estudos RetrospectivosRESUMO
PURPOSE: The complexity of multimodal approaches in cancer management has lately led to the establishment of multidisciplinary tumor boards (MDTBs) to define targeted, patient-centered treatment strategies. However, few data are available regarding the application of this approach in Ocular Oncology. Hereby, the Authors analyze the implementation and outcomes of a trained MDTB in a tertiary ocular oncology referral center. METHODS: A retrospective descriptive analysis of MDTB meetings discussing patients with ocular and periocular cancers, over a 12-months period, was carried out. Data were grouped by main site involved, topics discussed and final clinical decisions therefore taken. Meetings were held by a constant 'Core team' or - when required - by a broader 'Extended team'. RESULTS: During the observational period 86 cases were discussed. In 27 patients ocular surface tissues were involved (31%), in 25 patients orbital tissues (29%), in 22 patients eyelids (26%), and in 12 patients intraocular tissues (14%). In 13 cases (15%) naïve or referred new patients, in 34 cases (40%) imaging or histopathologic reports and in 39 cases (45%) treatment plans were discussed. Regarding final decisions, a treatment plan was scheduled in 47 cases (55%) and a diagnostic ascertainment was required in 27 patients (31%); locally advanced and/or systemic diseases were referred or teamed up with other specialists in 12 cases (14%). CONCLUSIONS: Ocular Oncology multidisciplinary team, by sharing expertise of different specialists, ensures a comprehensive evaluation of patients improving the accuracy of diagnosis and staging upon which planning a proper treatment. Further studies are needed to assess if this approach may also improve the outcomes and prognosis of patients.
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Neoplasias , Equipe de Assistência ao Paciente , Humanos , Centros de Atenção Terciária , Estudos Retrospectivos , Neoplasias/terapia , OncologiaRESUMO
Rhinocerebral mucormycosis (RCM) may result in severe intracranial ischemic and hemorrhagic lesions. Both computed tomography (CT) and magnetic resonance imaging (MRI) play an essential role in the diagnosis of RCM, but whereas CT is better for assessing bone erosion, MRI is superior in evaluating soft tissue, intraorbital extension, and in assessing intracranial and vascular invasion. Specific CT and MRI techniques, such as CT angiography or enhanced MR angiography, and more advanced MRI sequences such as gadolinium-3D Black Blood imaging, contribute to the assessment of the extension of vascular invasion.In this pictorial review, we describe specific CT and MRI signs of RCM, mainly focusing on its life-threatening complications due to vascular involvement.
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Encefalopatias/diagnóstico por imagem , Encefalopatias/parasitologia , Imageamento por Ressonância Magnética , Mucormicose/diagnóstico por imagem , Neuroimagem , Sinusite/diagnóstico por imagem , Sinusite/parasitologia , Tomografia Computadorizada por Raios X , Encefalopatias/complicações , Isquemia Encefálica/etiologia , Trombose do Corpo Cavernoso/etiologia , Hemorragia Cerebral/etiologia , Diagnóstico Diferencial , Humanos , Aneurisma Intracraniano/etiologia , Mucormicose/complicações , Doenças Orbitárias/complicações , Doenças Orbitárias/diagnóstico por imagem , Doenças Orbitárias/parasitologia , Sinusite/complicaçõesRESUMO
PURPOSE: To assess the accuracy of dynamic susceptibility contrast-enhanced perfusion-weighted magnetic resonance imaging in glioma grading and brain tumor characterization of infratentorial tumors, and to investigate differences from supratentorial tumors. METHODS: This retrospective study, approved by the institutional review board, included 246 patients with brain tumors (184 supratentorial, 62 infratentorial), grouped by tumor type: high-grade gliomas (HGG), low-grade gliomas (LGG), metastases (Met), and primary central nervous system lymphoma (PCNSL). Relative cerebral blood volume (rCBV) and mean percentage of signal recovery (PSR) were calculated. For statistical analyses, lesions were grouped by location and histology. Differences were tested with Mann-Whitney U tests. From ROC curves, we calculated accuracy, sensitivity, specificity, PPV, and NPV, for rCBV and PSR. RESULTS: For infratentorial tumors, rCBV was highly accurate in differentiating HGG from LGG (AUC = 0.938). Mean PSR showed high accuracy in differentiating PCNSL and HGG from Met (AUC = 0.978 and AUC = 0.881, respectively). Infratentorial and supratentorial tumors had similarly high rCBV in HGG, high mean PSR in PCNSL, and low mean PSR in Met. The main differences were the optimum threshold rCBV values (3.04 for supratentorial, 1.77 for infratentorial tumors) and the mean PSR, which was significantly higher in LGG than in HGG in supratentorial (p = 0.035), but not infratentorial gliomas. Using infratentorial rCBV threshold values for supratentorial tumors decreased the sensitivity and specificity. CONCLUSION: rCBV and mean PSR were useful in grading and differentiating infratentorial tumors. Proper cutoff values were important in the accuracy of perfusion-weighted imaging in posterior fossa tumors.
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Neoplasias Infratentoriais/diagnóstico por imagem , Neoplasias Supratentoriais/diagnóstico por imagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Meios de Contraste , Imagem de Difusão por Ressonância Magnética , Humanos , Pessoa de Meia-Idade , Adulto JovemRESUMO
BACKGROUND: Pilocytic astrocytoma (PA) is the most common pediatric brain glioma and is considered the prototype of benign circumscribed astrocytoma. Despite its low malignancy, the CT and MRI features of brain PA may resemble those of much more aggressive brain tumors. Misdiagnosis of PA is particularly easy when it demonstrates MR morphological and non-morphological findings that are inconsistent with its non-aggressive nature and that overlap with the features of more aggressive brain tumors. METHOD: Basing on the evidence that the variation in the histological, genetic, and metabolic "fingerprint" for brain PA is dependent on tumor location, and the hypothesis that tumor location is related to the broad spectrum of morphological and non-morphological MR imaging findings, the authors discuss the MR imaging appearance of brain PA using a location-based approach to underline the typical and less typical imaging features and the main differential diagnosis of brain PA. A brief summary of the main pathological and clinical features, the natural history, and the treatment of brain PA is also provided. RESULT: A combination of morphological and non-morphological MR imaging features and a site-based approach to differential diagnosis are required for a pre-operative diagnosis. The new "cutting-edge" MR imaging sequences have the potential to impact the ease and confidence of pediatric brain tumor interpretation and offer a more efficient diagnostic work-up. CONCLUSIONS: Although the typical imaging features of brain pilocytic astrocytoma make radiological diagnosis relatively easy, an atypical and more aggressive appearance can lead to misdiagnosis. Knowing the broad spectrum of imaging characteristics on conventional and advanced MR imaging is important for accurate pre-operative radiological diagnosis and correctly interpreting changes during follow-up.
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Astrocitoma/diagnóstico , Neoplasias Encefálicas/diagnóstico , Imageamento por Ressonância Magnética , Neuroimagem/métodos , Astrocitoma/patologia , Neoplasias Encefálicas/patologia , HumanosRESUMO
Human transmissible spongiform encephalopathies (TSEs), or prion diseases, are invariably fatal conditions associated with a range of clinical presentations. TSEs are classified as sporadic [e.g. sporadic Creutzfeldt-Jakob disease (sCJD), which is the most frequent form], genetic (e.g. Gerstmann-Straussler-Scheinker disease, fatal familial insomnia, and inherited CJD), and acquired or infectious (e.g. Kuru, iatrogenic CJD, and variant CJD). In the past, brain imaging played a supporting role in the diagnosis of TSEs, whereas nowadays magnetic resonance imaging (MRI) plays such a prominent role that MRI findings have been included in the diagnostic criteria for sCJD. Currently, MRI is required for all patients with a clinical suspicion of TSEs. Thus, MRI semeiotics of TSEs should become part of the cultural baggage of any radiologist. The purposes of this update on the neuroradiology of CJD are to (i) review the pathophysiology and clinical presentation of TSEs, (ii) describe both typical and atypical MRI findings of CJD, and (iii) illustrate diseases mimicking CJD, underlining the MRI key findings useful in the differential diagnosis.
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Imageamento por Ressonância Magnética , Doenças Priônicas/diagnóstico por imagem , Diagnóstico Diferencial , Humanos , Neurorradiografia/métodosRESUMO
Vertebral hemangiomas (VHs) are a frequent and often incidental finding on computed tomography (CT) and magnetic resonance (MR) imaging of the spine. When their imaging appearance is "typical" (coarsened vertical trabeculae on radiographic and CT images, hyperintensity on T1- and T2-weighted MR images), the radiological diagnosis is straightforward. Nonetheless, VHs might also display an "atypical" appearance on MR imaging because of their histological features (amount of fat, vessels, and interstitial edema). Although the majority of VHs are asymptomatic and quiescent lesions, they can exhibit active behaviors, including growing quickly, extending beyond the vertebral body, and invading the paravertebral and/or epidural space with possible compression of the spinal cord and/or nerve roots ("aggressive" VHs). These "atypical" and "aggressive" VHs are a radiological challenge since they can mimic primary bony malignancies or metastases. CT plays a central role in the workup of atypical VHs, being the most appropriate imaging modality to highlight the polka-dot appearance that is representative of them. When aggressive VHs are suspected, both CT and MR are needed. MR is the best imaging modality to characterize the epidural and/or soft-tissue component, helping in the differential diagnosis. Angiography is a useful imaging adjunct for evaluating and even treating aggressive VHs. The primary objectives of this review article are to summarize the clinical, pathological, and imaging features of VHs, as well as the treatment options, and to provide a practical guide for the differential diagnosis, focusing on the rationale assessment of the findings from radiography, CT, and MR imaging.
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Hemangioma/diagnóstico , Imageamento por Ressonância Magnética/métodos , Neoplasias da Coluna Vertebral/diagnóstico , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/patologia , Tomografia Computadorizada por Raios X/métodos , HumanosRESUMO
INTRODUCTION: We aim to investigate the clinical onset, computed tomography (CT) and magnetic resonance (MR) imaging findings, and follow-up of patients with cerebral amyloid angiopathy (CAA)-related inflammation, an uncommon but clinically striking presentation of CAA. METHODS: We retrospectively reviewed the clinical manifestations, CT/MR imaging findings, and outcome of ten consecutive patients with CAA-related inflammation. In each patient, a brain CT study was performed at hospital admission, and brain MR imaging was carried out 2 to 4 days later. Clinical and radiologic follow-up findings were evaluated in all patients. RESULTS: The most common clinical onset was rapidly progressive cognitive decline, followed by focal neurological signs. Brain CT/MR showed unenhanced expansive subcortical lesions, corresponding to areas of vasogenic edema, associated with chronic lobar, cortical, or cortical-subcortical micro/macrohemorrhages. Clinical symptoms recovered in a few weeks under treatment in eight patients and spontaneously in the remaining two. MRI follow-up at 2 to 12 months after treatment showed resolution of the lesions. Three patients experienced symptomatic disease recurrence, with new lesions on CT/MR. CONCLUSION: In the absence of histological data, early recognition of the clinical symptoms and typical radiologic features of CAA-related inflammation is essential to enable timely establishment of proper treatment.
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Angiopatia Amiloide Cerebral/complicações , Angiopatia Amiloide Cerebral/diagnóstico , Transtornos Cognitivos/etiologia , Leucoencefalite Hemorrágica Aguda/diagnóstico , Leucoencefalite Hemorrágica Aguda/etiologia , Imageamento por Ressonância Magnética/métodos , Tomografia Computadorizada por Raios X/métodos , Idoso , Idoso de 80 Anos ou mais , Transtornos Cognitivos/diagnóstico , Feminino , Avaliação Geriátrica/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
Craniopharyngiomas continue to present a challenge in clinical practice due to their heterogeneity and unpredictable adherence to vital neurovascular structures, particularly the hypothalamus. This results in different degrees of hypothalamus-pituitary axis dysfunction and a lack of uniform consensus and treatment guidelines regarding optimal management. MRI and CT are complementary techniques in the preoperative diagnostic phase, enabling the precise definition of craniopharyngioma size, shape, and consistency, as well as guiding classification into histopathological subtypes and topographical categories. Meanwhile, MRI plays a crucial role in the immediate postoperative period and follow-up stages by identifying treatment-related changes and residual tumors. This pictorial essay aims to provide an overview of the role of imaging in identifying variables indicative of the adherence degree to the hypothalamus, hypothalamic-pituitary dysfunction, the extent of surgical excision, and prognosis. For a more comprehensive assessment, we choose to distinguish the following two scenarios: (1) the initial diagnosis phase, where we primarily discuss the role of radiological variables predictive of adhesions to the surrounding neurovascular structures and axis dysfunction which may influence the choice of surgical resection; (2) the early post-treatment follow-up phase, where we discuss the interpretation of treatment-related changes that impact outcomes.
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The primary treatment for glioblastoma (GBM) is removing the tumor mass as defined by MRI. However, MRI has limited diagnostic and predictive value. Tumor-associated macrophages (TAM) are abundant in GBM tumor microenvironment (TME) and are found in peripheral blood (PB). FKBP51 expression, with its canonical and spliced isoforms, is constitutive in immune cells and aberrant in GBM. Spliced FKBP51s supports M2 polarization. To find an immunologic signature that combined with MRI could advance in diagnosis, we immunophenotyped the macrophages of TME and PB from 37 patients with GBM using FKBP51s and classical M1-M2 markers. We also determined the tumor levels of FKBP51s, PD-L1, and HLA-DR. Tumors expressing FKBP51s showed an increase in various M2 phenotypes and regulatory T cells in PB, indicating immunosuppression. Tumors expressing FKBP51s also activated STAT3 and were associated with reduced survival. Correlative studies with MRI and tumor/macrophages cocultures allowed to interpret TAMs. Tumor volume correlated with M1 infiltration of TME. Cocultures with spheroids produced M1 polarization, suggesting that M1 macrophages may infiltrate alongside cancer stem cells. Cocultures of adherent cells developed the M2 phenotype CD163/FKBP51s expressing pSTAT6, a transcription factor enabling migration and invasion. In patients with recurrences, increased counts of CD163/FKBP51s monocyte/macrophages in PB correlated with callosal infiltration and were accompanied by a concomitant decrease in TME-infiltrating M1 macrophages. PB PD-L1/FKBP51s connoted necrotic tumors. In conclusion, FKBP51s identifies a GBM subtype that significantly impairs the immune system. Moreover, FKBP51s marks PB macrophages associated with MRI features of glioma malignancy that can aid in patient monitoring. SIGNIFICANCE: Our research suggests that by combining imaging with analysis of monocyte/macrophage subsets in patients with GBM, we can enhance our understanding of the disease and assist in its treatment. We discovered a similarity in the macrophage composition between the TME and PB, and through association with imaging, we could interpret macrophages. In addition, we identified a predictive biomarker that drew more attention to immune suppression of patients with GBM.
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Neoplasias Encefálicas , Glioblastoma , Isoformas de Proteínas , Proteínas de Ligação a Tacrolimo , Microambiente Tumoral , Humanos , Glioblastoma/genética , Glioblastoma/patologia , Glioblastoma/imunologia , Glioblastoma/metabolismo , Glioblastoma/mortalidade , Glioblastoma/diagnóstico por imagem , Proteínas de Ligação a Tacrolimo/genética , Proteínas de Ligação a Tacrolimo/metabolismo , Prognóstico , Feminino , Microambiente Tumoral/imunologia , Masculino , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/imunologia , Neoplasias Encefálicas/mortalidade , Pessoa de Meia-Idade , Macrófagos Associados a Tumor/imunologia , Macrófagos Associados a Tumor/metabolismo , Idoso , Biomarcadores Tumorais/metabolismo , Biomarcadores Tumorais/genética , Imageamento por Ressonância Magnética , AdultoRESUMO
OBJECTIVE: To investigate the Italian experience on the surgical and radiosurgical treatment of drug-resistant epilepsy due to hypothalamic hamartoma (HH) in the period 2011-2021 in six Italian epilepsy surgery centers, and to compare safety and efficacy profiles of the different techniques. METHODS: We collected pseudo-anonymized patient's data with at least 12 months of follow-up. Surgical outcome was defined according to Engel classification of seizure outcome. Univariate analysis was performed to assess the risk of post-operative seizures, categorized in dichotomous variable as favorable and unfavorable; explanatory variables were considered. Mann-Whitney or Chi-squared test were used to assess the presence of an association between variables (p < 0.05). RESULTS: Full presurgical and postoperative data about 42 patients from 6 epilepsy surgery centers were gathered. Engel class I was reached in the 65.8% and 66.6% of patients with gelastic and non-gelastic seizures, respectively. Other than daily non-gelastic seizures were associated with seizure freedom (p = 0.01), and the radiological type presented a trend toward significance (p = 0.12). SIGNIFICANCE: Endoscopic disconnection and laser interstitial thermal therapy are effective in the treatment of HH-related epilepsy, with a tolerable safety profile. Both gelastic and non-gelastic seizures can be treated, also in patients with a long history of seizures. PLAIN LANGUAGE SUMMARY: This study collected data about 42 patients with HH-related epilepsies. Endoscopic disconnection and laser therapy are both effective and safe in the treatment of hypothalamic hamartoma-related epilepsies.
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Hamartoma , Doenças Hipotalâmicas , Radiocirurgia , Humanos , Hamartoma/cirurgia , Doenças Hipotalâmicas/cirurgia , Radiocirurgia/métodos , Itália , Feminino , Masculino , Criança , Pré-Escolar , Adolescente , Epilepsia Resistente a Medicamentos/cirurgia , Resultado do Tratamento , Adulto , Lactente , Adulto Jovem , Estudos Retrospectivos , Procedimentos Neurocirúrgicos/métodosRESUMO
Developmental venous anomalies (DVAs) are benign embryologic vascular variants, and before the advent of computed tomography and magnetic resonance imaging were supposed to be rare conditions. Usually, DVAs are asymptomatic and accidentally discovered during routine brain imaging studies, but sometimes they can be the cause of disabling neurologic symptoms. We describe the clinical and neuroradiologic follow-up of a 62-year-old man with a history of inflammatory bowel disease (IBD) presenting with new onset epilepsy and intracranial hemorrhage caused by thrombosis of a DVA who fully recovered after treatment with oral anticoagulant therapy. Patients with IBD have an increased risk of thrombosis because of inflammatory activity and the hypercoagulable state. Here we describe the first case of DVA thrombosis in a patient with IBD, and we show clinical and neuroradiologic follow-up after anticoagulant therapy.
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Veias Cerebrais/anormalidades , Doenças Inflamatórias Intestinais/complicações , Malformações Arteriovenosas Intracranianas/complicações , Trombose Venosa/complicações , Angiografia Cerebral , Veias Cerebrais/diagnóstico por imagem , Humanos , Doenças Inflamatórias Intestinais/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Trombose Venosa/diagnóstico por imagemRESUMO
MRI is undoubtedly the cornerstone of brain tumor imaging, playing a key role in all phases of patient management, starting from diagnosis, through therapy planning, to treatment response and/or recurrence assessment. Currently, neuroimaging can describe morphologic and non-morphologic (functional, hemodynamic, metabolic, cellular, microstructural, and sometimes even genetic) characteristics of brain tumors, greatly contributing to diagnosis and follow-up. Knowing the technical aspects, strength and limits of each MR technique is crucial to correctly interpret MR brain studies and to address clinicians to the best treatment strategy. This article aimed to provide an overview of neuroimaging in the assessment of adult primary brain tumors. We started from the basilar role of conventional/morphological MR sequences, then analyzed, one by one, the non-morphological techniques, and finally highlighted future perspectives, such as radiomics and artificial intelligence.
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MRI plays a key role in the evaluation of post-treatment changes, both in the immediate post-operative period and during follow-up. There are many different treatment's lines and many different neuroradiological findings according to the treatment chosen and the clinical timepoint at which MRI is performed. Structural MRI is often insufficient to correctly interpret and define treatment-related changes. For that, advanced MRI modalities, including perfusion and permeability imaging, diffusion tensor imaging, and magnetic resonance spectroscopy, are increasingly utilized in clinical practice to characterize treatment effects more comprehensively. This article aims to provide an overview of the role of advanced MRI modalities in the evaluation of treated glioblastomas. For a didactic purpose, we choose to divide the treatment history in three main timepoints: post-surgery, during Stupp (first-line treatment) and at recurrence (second-line treatment). For each, a brief introduction, a temporal subdivision (when useful) or a specific drug-related paragraph were provided. Finally, the current trends and application of radiomics and artificial intelligence (AI) in the evaluation of treated GB have been outlined.
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INTRODUCTION: Pilocytic astrocytoma (PA) is classified by the World Health Organization as a grade I tumor. Magnetic resonance imaging (MRI) is the gold standard in the diagnosis and follow-up of this neoplasm, and assessment of contrast enhancement (CE) pattern is essential. The purpose of this study was to investigate CE changes of non-cerebellar PA (n-C PA) stable in size with serial MRI. METHODS: Nine hundred and twelve MRI exams of 140 children with histologically proven PA were retrospectively reviewed. Patients were chosen for study inclusion if they were off therapy, without neurofibromatosis type 1, and without dimensional changes of tumor/residual tumor. In patients with CE changes, tumor size and CE size were calculated with a cross product. Descriptive statistics were calculated for continuous variables; effects of possible factors influencing changes of contrast-enhanced areas were tested. RESULTS: Of 39 n-C PA satisfying the inclusion criteria, 12 showed CE changes in terms of appearance/increase or disappearance/decrease of CE areas. Three of these 12 PA were infratentorial and nine supratentorial. There were no significant correlations between age, gender, tumor localization, tumor size, and modification of CE areas. CONCLUSION: In our experience, n-C PA may show variable CE over time in the absence of tumor/residual tumor dimension change. We recommend that CE fluctuations alone cannot be considered an indicator of tumor progression/regression.
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Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Imageamento por Ressonância Magnética/métodos , Adolescente , Criança , Pré-Escolar , Meios de Contraste , Feminino , Gadolínio DTPA , Humanos , Interpretação de Imagem Assistida por Computador , Lactente , Masculino , Estudos RetrospectivosRESUMO
Predictive factors for response to regorafenib in recurrent glioblastoma, IDH-wildtype, are scarcely recognized. The objective of this study was to identify molecular predictive factors for response to regorafenib using a clinically available platform. We analyzed a prospective cohort of 30 patients harboring recurrent glioblastoma, IDH-wildtype, and treated with regorafenib. Next-generation sequencing (NGS) analysis was performed on DNA extracted from paraffin-embedded tissues using a clinically available platform. Moreover, MGMT methylation and EGFRvIII expression analyses were performed. Six-month progression-free survival (PFS) was 30% and median overall survival (OS) was 7.5 months, in line with literature data. NGS analysis revealed a mutation in the EGFR pathway in 18% of cases and a mutation in the mitogen-activated protein-kinase (MAPK) pathway in 18% of cases. In the remaining cases, no mutations were detected. Patients carrying MAPK pathway mutation had a poor response to regorafenib treatment, with a significantly shorter PFS and a nonsignificantly shorter OS compared to EGFR-mutated patients (for PFS, 2.5 vs 4.5 months, p = 0.0061; for OS, 7 vs 9 months, p = 0.1076). Multivariate analysis confirmed that MAPK pathway mutations independently predicted a shorter PFS after regorafenib treatment (p = 0.0188). The negative prognostic role of MAPK pathway alteration was reinforced when we combined EGFR-mutated with EGFRvIII-positive cases. Recurrent glioblastoma tumors with an alteration in MAPK pathway could belong to the mesenchymal subtype and respond poorly to regorafenib treatment, while EGFR-altered cases have a better response to regorafenib. We thus provide a molecular selection criterion easy to implement in the clinical practice.
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Neoplasias Encefálicas , Glioblastoma , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Metilases de Modificação do DNA/genética , Enzimas Reparadoras do DNA/genética , Receptores ErbB/metabolismo , Glioblastoma/tratamento farmacológico , Glioblastoma/genética , Glioblastoma/metabolismo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mitógenos , Recidiva Local de Neoplasia/tratamento farmacológico , Recidiva Local de Neoplasia/genética , Compostos de Fenilureia , Prognóstico , Estudos Prospectivos , Piridinas , Proteínas Supressoras de Tumor/genéticaRESUMO
BACKGROUND CONTEXT: Involvement of the cauda equina in Ewing sarcoma (ES) is extremely rare, and only few cases are reported in literature. However, ES of cauda equina shares some neuroradiological features with other neoplasms that can involve the intradural space. Therefore, differential diagnosis with other tumors of cauda equina should be considered by neuroradiologists and neurosurgeons to provide appropriate treatment. PURPOSE: To present a rare case of intradural extramedullary primary ES. STUDY DESIGN: Case report. METHODS: We report a case of a 44-year-old woman presenting with the rapid onset of cauda equina syndrome. Radiological analysis showed multiple intradural masses, extending from L1 to S3 level. After radical surgery, lesions were histologically defined as ES. We present a literature review, analyzing magnetic resonance image (MRI) features of primary intradural ES of the cauda equina. RESULTS: Four cases of primitive ES arising from the cauda equina have been reported in the literature. CONCLUSIONS: Because of the low number of reported cases, it is not possible to describe pathognomonic MRI findings for intradural ES of the cauda equina. However, few tumors show similar MRI features. Therefore, despite its rarity, intradural ES should be taken into account in the differential diagnosis of spinal tumors involving cauda equina.
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Cauda Equina/patologia , Sarcoma de Ewing/patologia , Neoplasias da Coluna Vertebral/patologia , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Imageamento por Ressonância Magnética , Sarcoma de Ewing/cirurgia , Neoplasias da Coluna Vertebral/cirurgiaRESUMO
BACKGROUND: Decompressive craniectomy (DC) is a known risk factor for the development of post-traumatic hydrocephalus. The occurrence of subdural hygroma (SH) was also reported in 23-56% of patients after DC and it seemed to precede hydrocephalus in more than 80% of cases. We analyzed the relationship among DC, SH and hydrocephalus. METHODS: From 2007 to 2011, 64 patients underwent DC after head trauma. Variables we analyzed were: intaventricular hemorrhage, age, GCS, distance of craniectomy from the midline, evacuation of a hemorrhagic contusion (HC) and infection. Logistic regression was used to assess the independent contribution of the predictive factors to the development of hydrocephalus. RESULTS: Nineteen patients (29.7%) developed hydrocephalus. Interhemispheric SH was present in 8/19 patients with hydrocephalus and temporally preceded the occurrence of ventricular enlargement. Moreover, most patients who developed a interhemispheric SH had been undergone DC whose superior margin was close to the midline. Logistic regression analysis showed that craniectomy closer than 25 mm to the midline was the only factor independently associated with the development of hydrocephalus. CONCLUSION: Craniectomy close to the midline can predispose patients to the development of hydrocephalus. SH could be generated with the same mechanism, and these three events could be correlated on a timeline.
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Neoplasias Encefálicas/etiologia , Craniectomia Descompressiva/efeitos adversos , Hidrocefalia/etiologia , Linfangioma Cístico/etiologia , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Lesões Encefálicas/cirurgia , Infecções do Sistema Nervoso Central/epidemiologia , Infecções do Sistema Nervoso Central/etiologia , Contusões/epidemiologia , Contusões/etiologia , Feminino , Escala de Coma de Glasgow , Humanos , Hemorragias Intracranianas/complicações , Hemorragias Intracranianas/cirurgia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
We report a case of agenesis of the gallbladder with the presence of a small dysmorphic cyst, along the bed of the gallbladder and cystic duct. The patient presented to us with a suspected diagnosis of atrophic and sclerotic gallbladder that was not seen on ultrasound examination, indicating the need for cholecystectomy. The patient's medical history report mentioned agenesis of the left kidney. The existence of a congenital abnormality led us to suspect the inability to visualize the gallbladder was probably due to a possible agenesis of the gallbladder. The patient was investigated with magnetic resonance cholangiopancreatography (MRCP), that confirmed the suspected diagnosis and avoided unnecessary surgery. The hypothesis of anomalous development or agenesis of the gallbladder should always be suspected when the gallbladder is not visible on ultrasound imaging, especially in patients with other congenital anomalies. We believe that in all these patients, MRCP must always be performed to help make decisions on the treatment protocol.