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2.
BMJ Case Rep ; 12(7)2019 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-31272995

RESUMO

Frequent falls and dizziness are common complaints in children. These symptoms can be caused by wide range of underlying pathologies including peripheral vestibular deficits, cardiac disease, central lesions, motor skills delay and psychogenic disorders. We report three paediatric cases who presented with complaints of repeated falls and imbalance. MRI scan revealed underlying brain lesions (frontal lobe arteriovenous malformation, exophytic brain stem glioma and cerebellomedullary angle arachnoid cyst with cerebellar tonsillar ectopia). By reporting these cases, we would like to emphasise the importance of a thorough assessment of children with similar symptoms by detailed clinical history, physical examination and maintaining low threshold for investigations, including radiological imaging. Taking in consideration, the wide range of differential diagnosis, the challenge of obtaining detailed history and difficulty of performing reliable physical examination in this age group. Management of underlying disorders can be medical, surgical or just observational.


Assuntos
Cistos Aracnóideos/diagnóstico por imagem , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Tontura/diagnóstico por imagem , Glioma/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Acidentes por Quedas , Adolescente , Cistos Aracnóideos/complicações , Neoplasias do Tronco Encefálico/complicações , Criança , Pré-Escolar , Diagnóstico Diferencial , Tontura/etiologia , Feminino , Glioma/complicações , Humanos , Malformações Arteriovenosas Intracranianas/complicações
3.
Pediatr Blood Cancer ; 66(11): e27917, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31347764

RESUMO

Low-grade gliomas (LGG) are among the most common types of brain tumors in children and young adults. These tumors often consist of solid and cystic components. Bevacizumab is a documented treatment for progressive LGG, yet the impact of therapy on the cystic component of these tumors is unknown. We present four patients with prominently cystic LGG treated with bevacizumab at the time of progression. In each case, the cystic component responded to treatment. This is the first known study to investigate bevacizumab's impact on the cystic component of low-grade gliomas.


Assuntos
Inibidores da Angiogênese/uso terapêutico , Bevacizumab/uso terapêutico , Neoplasias Encefálicas/tratamento farmacológico , Cistos do Sistema Nervoso Central/tratamento farmacológico , Glioma/tratamento farmacológico , Neoplasias da Coluna Vertebral/tratamento farmacológico , Vértebras Torácicas , Adolescente , Adulto , Astrocitoma/irrigação sanguínea , Astrocitoma/diagnóstico por imagem , Astrocitoma/radioterapia , Astrocitoma/cirurgia , Edema Encefálico/tratamento farmacológico , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/terapia , Neoplasias do Tronco Encefálico/irrigação sanguínea , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Neoplasias do Tronco Encefálico/tratamento farmacológico , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/fisiopatologia , Criança , Pré-Escolar , Terapia Combinada , Irradiação Craniana , Procedimentos Cirúrgicos de Citorredução , Feminino , Ganglioglioma/complicações , Ganglioglioma/diagnóstico por imagem , Ganglioglioma/tratamento farmacológico , Ganglioglioma/cirurgia , Glioma/diagnóstico por imagem , Glioma/terapia , Humanos , Masculino , Compressão da Medula Espinal/tratamento farmacológico , Compressão da Medula Espinal/etiologia , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/cirurgia , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/cirurgia
4.
J Comput Assist Tomogr ; 43(4): 547-552, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31162235

RESUMO

PURPOSE: The purpose of this study was to investigate whether alterations of regional neural function in children with diffuse intrinsic pontine glioma (DIPG) had manifested deficit in behavioral inhibition using resting-state functional MRI (rs-fMRI). METHODS: There were 17 participants with DIPG who took part in the study. Eight children were with deficit in behavioral inhibition, whereas the other 9 children did not obtain deficit in behavioral inhibition. Five healthy children with age, sex, and education matched to the study group also participated as the control group. These 3 groups underwent rs-fMRI, and the results were then converted to amplitude of low-frequency fluctuation (ALFF) data. Amplitude of low-frequency fluctuation data were further analyzed by single-factor analysis of variance comparing among 3 groups based on the whole brain levels. Amplitude of low-frequency fluctuation results were subjected to t test of voxel-wised comparison to derive the rs-fMRI brain function differences between the 2 DIPG groups. The Pearson correlation between ALFF values of abnormal regions found in 3 groups and the scores obtained according to the Child Behavior Checklist were analyzed. RESULTS: The 3 groups had shown significant differences in terms of the ALFF results, with the ALFF increased in several brain regions (P < 0.05, corrected with AlphaSim, clusters >59 voxels), which include left supramarginal gyrus, left dorsolateral superior frontal gyrus, right precentral gyrus, and right middle frontal gyrus. Participants with deficit in behavioral inhibition had shown significant differences (ALFF decreased) in several brain regions, including left dorsolateral superior frontal gyrus and right fusiform gyrus (P < 0.05, corrected with AlphaSim, clusters >123 voxels), whereas other brain regions had shown ALFF increased, including left supramarginal gyrus, left middle frontal gyrus, and right medial superior frontal gyrus (P < 0.05, corrected with AlphaSim, clusters >123 voxels). There was no significant correlation between ALFF values and Child Behavior Checklist scores (P > 0.05). CONCLUSIONS: These findings of focal spontaneous hyperfunction and hypofunction, which correlate with deficit in behavioral inhibition processing, and the abnormal brain regions are considered to be inefficient (in regions of the brain that may relate to compensatory brain and behavioral functioning, and it may be that the brain region needs to exert extra energy to perform a task to the same degree as the control group) or inability (inability in a certain region, or underpowered), pointing to a pathophysiologic process in executive dysfunction.


Assuntos
Neoplasias do Tronco Encefálico , Encéfalo , Transtornos do Comportamento Infantil , Imagem por Ressonância Magnética/métodos , Adolescente , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Neoplasias do Tronco Encefálico/fisiopatologia , Estudos de Casos e Controles , Criança , Transtornos do Comportamento Infantil/diagnóstico por imagem , Transtornos do Comportamento Infantil/fisiopatologia , Pré-Escolar , Feminino , Humanos , Interpretação de Imagem Assistida por Computador , Masculino
5.
World Neurosurg ; 128: 230-233, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31082554

RESUMO

BACKGROUND: Pilocytic astrocytoma is a benign glial tumor typically presenting in children. It is rare for adults to present with pilocytic astrocytoma and even less likely to manifest with multiple foci of lesions especially in nonoptic or hypothalamic locations. CASE DESCRIPTION: Our patient was a 37-year old man presenting with varied cranial neuropathies, cerebellar dysfunction, and long tract signs, with imaging demonstrating 3 discrete ill-defined contrast-enhancing lesions affecting the cerebellar peduncles, brainstem, and cervicomedullary junction. Neuronavigation-guided biopsy confirmed World Health Organization grade 1 pilocytic astrocytoma; the patient was treated with radiotherapy. CONCLUSIONS: To our knowledge, we believe this is the first reported case with multifocal infratentorial pilocytic astrocytoma on presentation in an adult patient in the absence of a prior history of associated risk factors such as neurofibromatosis 1 or chemoradiotherapeutic intervention.


Assuntos
Astrocitoma/diagnóstico por imagem , Neoplasias Infratentoriais/diagnóstico por imagem , Neoplasias Primárias Múltiplas/diagnóstico por imagem , Adulto , Astrocitoma/patologia , Astrocitoma/radioterapia , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Neoplasias do Tronco Encefálico/patologia , Neoplasias do Tronco Encefálico/radioterapia , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/patologia , Neoplasias Cerebelares/radioterapia , Humanos , Biópsia Guiada por Imagem , Neoplasias Infratentoriais/patologia , Neoplasias Infratentoriais/radioterapia , Imagem por Ressonância Magnética , Masculino , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/radioterapia , Neuronavegação , Radioterapia
6.
World Neurosurg ; 128: 202-205, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31100526

RESUMO

BACKGROUND: Nontectal plate exophytic brainstem gliomas with pilocytic histology are rare and occur mainly in children. Because of their eloquent location, therapy usually consists of bioptic histologic verification and radiotherapy in case of progression. CASE DESCRIPTION: We report on a 43-year-old patient who presented with intermittent tinnitus and reduced hearing in his left ear, as well as a slight left-sided ataxia. Magnetic resonance imaging revealed a left-sided solid cystic cerebellar-pontine angle (CPA) tumor completely obliterating the CPA. Radiologically, a solid cystic vestibular schwannoma was diagnosed. Intraoperatively, a glossy-grayish, intensively bleeding tumor without any capsule or delineation to the brainstem or cranial nerves was resected using electrophysiologic monitoring. Postoperative histology revealed a pilocytic astrocytoma. Three months postoperatively, hearing was preserved (pure tone average-35 dB) and ataxia was equal to what it was preoperatively, gradually becoming better. Postoperative magnetic resonance scans demonstrated a complete resection of the tumor with completely restored brainstem contours. CONCLUSIONS: Exophytic brainstem gliomas may occur in the CPA and mimic vestibular schwannoma. Complete resection even with preserved hearing without neurologic deterioration may be feasible.


Assuntos
Astrocitoma/cirurgia , Neoplasias do Tronco Encefálico/cirurgia , Neuroma Acústico/diagnóstico , Adulto , Astrocitoma/diagnóstico por imagem , Audiometria de Tons Puros , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Diagnóstico Diferencial , Glioma/diagnóstico por imagem , Glioma/cirurgia , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Imagem por Ressonância Magnética , Masculino , Complicações Pós-Operatórias/fisiopatologia
8.
BMJ Case Rep ; 12(4)2019 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-30996066

RESUMO

Brainstem gliomas are rare tumours in adults, accounting for only 1%-2% of all intracranial gliomas. They are recognised as a heterogeneous group, in which most are malignant tumours. Brainstem gliomas are classified into four major groups according to the growth pattern on imaging, namely diffuse, focal, exophytic and cervicomedullary. Such a classification system is also useful for surgical decision making. The exophytic variant is extremely rare having anecdoctal reports in the literature. We report the case of an adult patient affected by an exophytic glioblastoma of the pons, which was submitted to subtotal resection followed by radiation therapy and chemotherapy with a longer overall survival. To the best of our knowledge, this is the seventh adult patient reported of an exophytic brainstem glioblastoma.


Assuntos
Neoplasias do Tronco Encefálico/patologia , Tronco Encefálico/patologia , Doenças dos Nervos Cranianos/diagnóstico por imagem , Glioblastoma/diagnóstico por imagem , Neuroimagem , Ponte/patologia , Tronco Encefálico/diagnóstico por imagem , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Neoplasias do Tronco Encefálico/terapia , Quimiorradioterapia , Doenças dos Nervos Cranianos/etiologia , Doenças dos Nervos Cranianos/fisiopatologia , Evolução Fatal , Glioblastoma/patologia , Glioblastoma/terapia , Humanos , Hidrocefalia/fisiopatologia , Hemorragias Intracranianas/fisiopatologia , Masculino , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos/métodos , Ponte/diagnóstico por imagem , Fatores de Tempo
9.
J Neurooncol ; 143(1): 107-113, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30830679

RESUMO

BACKGROUND: Diffuse intrinsic pontine glioma (DIPG) is a devastating cancer of childhood and adolescence. METHODS: The study included patients between 3 and 20 years with clinically and radiologically confirmed DIPG. Primary endpoint was 6-month progression-free survival (PFS) following administration of nimotuzumab in combination with external beam radiotherapy (RT). Nimotuzumab was administered intravenously at 150 mg/m2 weekly for 12 weeks. Radiotherapy at total dose of 54 Gy was delivered between week 3 and week 9. Response was evaluated based on clinical features and MRI findings according to RECIST criteria at week 12. Thereafter, patients continued to receive nimotuzumab every alternate week until disease progression/unmanageable toxicity. Adverse events (AE) were evaluated according to Common Terminology Criteria for Adverse Events (CTC-AE) Version 3.0 (CTC-AE3). RESULTS: All 42 patients received at least one dose of nimotuzumab in outpatient settings. Two patients had partial response (4.8%), 27 had stable disease (64.3%), 10 had progressive disease (23.8%) and 3 patients (7.1%) could not be evaluated. The objective response rate (ORR) was 4.8%. Median PFS was 5.8 months and median overall survival (OS) was 9.4 months. Most common drug-related AEs were alopecia (14.3%), vomiting, headache and radiation skin injury (7.1% each). Therapy-related serious adverse events (SAEs) were intra-tumoral bleeding and acute respiratory failure, which were difficult to distinguish from effects of tumor progression. CONCLUSIONS: Concomitant treatment with RT and nimotuzumab was feasible in an outpatient setting. The PFS and OS were comparable to results achieved with RT and intensive chemotherapy in hospitalized setting.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Antineoplásicos Imunológicos/uso terapêutico , Neoplasias do Tronco Encefálico/terapia , Quimiorradioterapia , Glioma/terapia , Adolescente , Anticorpos Monoclonais Humanizados/efeitos adversos , Antineoplásicos Imunológicos/efeitos adversos , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Quimiorradioterapia/efeitos adversos , Criança , Pré-Escolar , Progressão da Doença , Feminino , Glioma/diagnóstico por imagem , Humanos , Masculino , Ponte , Análise de Sobrevida , Resultado do Tratamento , Adulto Jovem
12.
J Neurooncol ; 143(1): 79-86, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30810873

RESUMO

BACKGROUND AND PURPOSE: Baseline diffusion or apparent diffusion coefficient (ADC) characteristics have been shown to predict outcome related to DIPG, but the predictive value of post-radiation ADC is less well understood. ADC parametric mapping (FDM) was used to measure radiation-related changes in ADC and compared these metrics to baseline ADC in predicting progression-free survival and overall survival using a large multi-center cohort of DIPG patients (Pediatric Brain Tumor Consortium-PBTC). MATERIALS AND METHODS: MR studies at baseline and post-RT in 95 DIPG patients were obtained and serial quantitative ADC parametric maps were generated from diffusion-weighted imaging based on T2/FLAIR and enhancement regions of interest (ROIs). Metrics assessed included total voxels with: increase in ADC (iADC); decrease in ADC (dADC), no change in ADC (nADC), fraction of voxels with increased ADC (fiADC), fraction of voxels with decreased ADC (fdADC), and the ratio of fiADC and fdADC (fDM Ratio). RESULTS: A total of 72 patients were included in the final analysis. Tumors with higher fiADC between baseline and the first RT time point showed a trend toward shorter PFS with a hazard ratio of 6.44 (CI 0.79, 52.79, p = 0.083). In contrast, tumors with higher log mean ADC at baseline had longer PFS, with a hazard ratio of 0.27 (CI 0.09, 0.82, p = 0.022). There was no significant association between fDM derived metrics and overall survival. CONCLUSIONS: Baseline ADC values are a stronger predictor of outcome compared to radiation related ADC changes in pediatric DIPG. We show the feasibility of employing parametric mapping techniques in multi-center studies to quantitate spatially heterogeneous treatment response in pediatric tumors, including DIPG.


Assuntos
Neoplasias do Tronco Encefálico/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Glioma/diagnóstico por imagem , Interpretação de Imagem Assistida por Computador/métodos , Adolescente , Algoritmos , Neoplasias do Tronco Encefálico/mortalidade , Neoplasias do Tronco Encefálico/radioterapia , Criança , Imagem de Difusão por Ressonância Magnética/métodos , Estudos de Viabilidade , Feminino , Glioma/mortalidade , Glioma/radioterapia , Humanos , Masculino , Ponte , Estudos Retrospectivos , Análise Espaço-Temporal , Análise de Sobrevida , Resultado do Tratamento
14.
J Nucl Med ; 60(3): 312-319, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30072503

RESUMO

The role of metabolic imaging in the diagnosis, treatment, and response assessment of diffuse intrinsic pontine glioma (DIPG) is poorly defined. We investigated the uptake of 11C-methionine in pediatric patients with newly diagnosed DIPG and evaluated the associations of 11C-methionine PET metrics with conventional MRI indices and survival outcomes. Methods: Twenty-two patients with newly diagnosed DIPG were prospectively enrolled on an institutional review board-approved investigational study of 11C-methionine PET. All patients underwent baseline 11C-methionine PET/CT, and initial treatment-response scans after chemotherapy or radiation therapy were obtained for 17 patients. Typical and atypical DIPGs were assessed clinically and radiographically and defined by multidisciplinary consensus. Three-dimensional regions of interest, reviewed by consensus between a nuclear medicine physician and a radiation oncologist, were delineated after coregistration of PET and MR images. Associations of 11C-methionine uptake intensity and uniformity with survival, along with associations between 11C-methionine uptake and conventional MRI tumor indices over time, were evaluated. 11C-methionine PET voxel values within regions of interest were assessed as threshold values across proportions of the study population, and 11C-methionine uptake at baseline was assessed relative to MRI-defined tumor progression. Results: 11C-methionine uptake above that of uninvolved brain tissue was observed in 18 of 22 baseline scans (82%) and 15 of 17 initial response scans (88%). 11C-methionine avidity within MRI-defined tumor was limited in extent, with 11 of 18 positive baseline 11C-methionine PET scans (61%) showing less than 25% 11C-methionine-avid tumor. The increase in total tumor volume with 11C-methionine PET was relatively limited (17.2%; interquartile range, 6.53%-38.90%), as was the extent of 11C-methionine uptake beyond the MRI-defined tumor (2.2%; interquartile range, 0.55%-10.88%). Although baseline 11C-methionine PET intensity and uniformity metrics did not correlate with survival outcomes, initial 11C-methionine avidity overlapped with recurrent tumor in 100% of cases. A clinical diagnosis of atypical DIPG was associated with borderline significantly prolonged progression-free survival (P = 0.07), yet 11C-methionine PET indices at diagnosis did not differ significantly between atypical and typical DIPGs. Conclusion: Most newly diagnosed DIPGs are successfully visualized by 11C-methionine PET. Baseline 11C-methionine uptake delineates regions at increased risk for recurrence, yet intensity and uniformity metrics did not correlate with treatment outcomes in children with DIPG in this study.


Assuntos
Neoplasias do Tronco Encefálico/diagnóstico por imagem , Neoplasias do Tronco Encefálico/patologia , Glioma/diagnóstico por imagem , Glioma/patologia , Imagem por Ressonância Magnética , Metionina , Tomografia por Emissão de Pósitrons , Adolescente , Criança , Difusão , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Análise de Sobrevida , Carga Tumoral
15.
J Clin Neurosci ; 59: 325-332, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30337125

RESUMO

Brainstem tumors are rare, even rarer is a brainstem tumor containing tissues of an embryologic gynecologic origin. We report a very rare case of presence of a calcified heterogeneously contrast enhancing brainstem mass of Müllerian origin in a patient in a 38 year old female with no female genital tract cancer and past surgical history of ventriculoperitoneal (VP) shunt placement for congenital hydrocephalus. To our knowledge this is the very first and unusual case of a mass of gynecologic origin in the brainstem region especially in the setting of no history of gynecological tumor. The authors also reviewed the literature for all tumors reported for anterograde and retrograde dissemination of tumor cells through VP shunt. This case is a reaffirmation of the importance of brain tumor location and tissue diagnosis for the purpose of adjuvant treatment of neurosurgical lesions in the neurocritical care setting. It also highlights the role of catheters as potential routes of iatrogenic transmission not just in anterograde but also in a retrograde manner to the CNS, which is very unusual. This is the only second case to report retrograde flow of tumor cells from an extraneural source up the VP catheters. The authors suggest that intraperitoneal chemotherapy should be considered in the cases of known extraneural abdominal malignancies of high malignant potential with or without the presence of peritoneal infiltration in order to avoid dissemination through VP shunts.


Assuntos
Neoplasias do Tronco Encefálico/etiologia , Células Epiteliais/patologia , Derivação Ventriculoperitoneal/efeitos adversos , Adulto , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Neoplasias do Tronco Encefálico/patologia , Carcinoma/patologia , Feminino , Neoplasias dos Genitais Femininos/patologia , Humanos , Hidrocefalia/cirurgia , Doença Iatrogênica
16.
J Robot Surg ; 13(4): 575-579, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30523502

RESUMO

Tumours located within the brainstem comprise approximately a tenth of all paediatric brain tumours. Surgical biopsy of these tumours is technically challenging and has historically been associated with considerable risk. To this end, robot-assisted surgery theoretically allows for increased accuracy and precision. In this study we report our experience using the Neuromate robot (Renishaw, Gloucestershire, UK) to perform robot-assisted stereotactic biopsy in children with tumours located within the brainstem. An uncontrolled prospective cohort study was performed (phase II) according to the IDEAL model for safe surgical innovation. All cases were recorded on a prospectively maintained database. The database was searched over a 2-year period between the 1st December 2015 and the 31st November 2017 to identify all children with brainstem tumours that underwent robot-assisted stereotactic brain biopsy. When accessible, the post-operative MRI scans and pre-operative plans were compared to assess the target point localisation error (TPLE). Adverse events were recorded prospectively according to whether they resulted in increased hospital stay, caused neurological injury, or lead to death. In all, 11 consecutive children were identified with brain tumours located within the brainstem. In 10/11 cases specimens were diagnostic; in the remaining case a further biopsy was successful. The most frequent pathology was DIPG (7/15). Seven patients underwent an early post-operative volumetric MRI; the calculated median TPLE was 2.7 mm (range 0.5-4.2 mm). There were no surgical complications noted. Robot-assisted stereotactic biopsy in children appears to be feasible and safe. Research databases and comparative studies are warranted to further assess the technique.


Assuntos
Biópsia/métodos , Neoplasias do Tronco Encefálico/patologia , Tronco Encefálico/parasitologia , Procedimentos Cirúrgicos Robóticos/métodos , Técnicas Estereotáxicas , Adolescente , Tronco Encefálico/diagnóstico por imagem , Tronco Encefálico/cirurgia , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Neoplasias do Tronco Encefálico/cirurgia , Criança , Pré-Escolar , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Neuroimagem/métodos , Estudos Prospectivos , Tomografia Computadorizada por Raios X
17.
Radiother Oncol ; 130: 172-179, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30097251

RESUMO

BACKGROUND: H3K27M is the most frequent mutation in brainstem gliomas (BSGs), and it has great significance in the differential diagnosis, prognostic prediction and treatment strategy selection of BSGs. There has been a lack of reliable noninvasive methods capable of accurately predicting H3K27M mutations in BSGs. METHODS: A total of 151 patients with newly diagnosed BSGs were included in this retrospective study. The H3K27M mutation status was obtained by whole-exome, whole-genome or Sanger's sequencing. A total of 1697 features, including 6 clinical parameters and 1691 imaging features, were extracted from pre- and post-contrast T1-weighted and T2-weighted images. Using a random forest algorithm, 36 selected MR image features were integrated with 3 selected clinical features to generate a model that was predictive of H3K27M mutations. Additionally, a simplified prediction model comprising the Karnofsky Performance Status (KPS) at diagnosis, symptom duration at diagnosis and edge sharpness on T2 was established for practical clinical utility using the least squares estimation method. RESULTS: H3K27M mutation was an independent prognostic factor that conferred a worse prognosis (p = 0.01, hazard ratio = 3.0, 95% confidence interval [CI], 1.57-5.74). The machine learning-based model achieved an accuracy of 84.44% (area under the curve [AUC] = 0.8298) in the test cohort. The simplified model achieved an AUC of 0.7839 in the test cohort. CONCLUSIONS: Using conventional MRI and clinical features, we established a machine learning-based model with high accuracy and a simplified model with improved clinical utility to predict H3K27M mutations in BSGs.


Assuntos
Neoplasias do Tronco Encefálico/genética , Glioma/genética , Histonas/genética , Aprendizado de Máquina , Imagem por Ressonância Magnética/métodos , Mutação , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Feminino , Glioma/diagnóstico por imagem , Histonas/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
18.
J Neurosurg ; 131(6): 1812-1818, 2018 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-30579270

RESUMO

OBJECTIVE: Convection-enhanced delivery (CED) has been explored as a therapeutic strategy for diffuse intrinsic pontine glioma (DIPG). Variables that may affect tolerance include infusate volume, infusion rate, catheter trajectory, and target position. Supratentorial approaches for catheter placement and infusate distribution patterns may conflict with corticospinal tracts (CSTs). The clinical relevance of these anatomical constraints has not been described. The authors report their experience using CED in the brainstem as it relates to anatomical CST conflict and association with clinical tolerance. METHODS: In a phase I clinical trial of CED for DIPG (clinical trial registration no. NCT01502917, clinicaltrials.gov), a flexible infusion catheter was placed with MRI guidance for infusion of 124I-8H9, a radioimmunotherapeutic agent. Intra- and postprocedural MR images were analyzed to identify catheter trajectories and changes in T2-weighted signal intensity to approximate volume of distribution (Vd). Intersection of CST by the catheter and overlap between Vd and CST were recorded and their correlation with motor deficits was evaluated. RESULTS: Thirty-one patients with a mean age of 7.6 years (range 3.2-18 years) underwent 39 catheter insertions for CED between 2012 and 2017. Thirty catheter insertions had tractography data available for analysis. The mean trajectory length was 105.5 mm (range 92.7-121.6 mm). The mean number of intersections of CST by catheter was 2.2 (range 0-3) and the mean intersecting length was 18.9 mm (range 0-44.2 mm). The first 9 infusions in the highest dose level (range 3.84-4.54 ml infusate) were analyzed for Vd overlap with CST. In this group, the mean age was 7.6 years (range 5.8-10.3 years), the mean trajectory length was 109.5 mm (range 102.6-122.3 mm), and the mean overlap between Vd and CST was 5.5 cm3. For catheter placement-related adverse events, 1 patient (3%) had worsening of a contralateral facial nerve palsy following the procedure with two CST intersections, an intersecting distance of 31.7 mm, and an overlap between Vd and CST of 3.64 cm3. For infusion-related adverse events, transient postinfusion deficits were noted in 3 patients in the highest dose level, with a mean number of 2 intersections of CST by catheter, mean intersecting length of 12.9 mm, and mean overlap between Vd and CST of 6.3 cm3. CONCLUSIONS: A supratentorial approach to the brainstem crossing the CST resulted in one worsened neurological deficit. There does not appear to be a significant risk requiring avoidance of dominant motor fiber tracts with catheter trajectory planning. There was no correlation between Vd-CST overlap and neurological adverse events in this cohort.Clinical trial registration no.: NCT01502917 (clinicaltrials.gov).


Assuntos
Neoplasias do Tronco Encefálico/diagnóstico por imagem , Tronco Encefálico/diagnóstico por imagem , Convecção , Sistemas de Liberação de Medicamentos/métodos , Radioisótopos do Iodo/administração & dosagem , Tratos Piramidais/diagnóstico por imagem , Adolescente , Antineoplásicos/administração & dosagem , Tronco Encefálico/efeitos dos fármacos , Neoplasias do Tronco Encefálico/tratamento farmacológico , Cateteres , Criança , Pré-Escolar , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Tratos Piramidais/efeitos dos fármacos , Radioimunoterapia/métodos
19.
J Neurosurg ; 131(6): 1829-1834, 2018 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-30579273

RESUMO

Maffucci syndrome (MS) and Ollier disease (OD) are nonhereditary congenital diseases characterized by multiple enchondromas and/or chondrosarcomas. Recent studies have implicated somatic mosaic mutations of isocitrate dehydrogenase 1 or 2 (IDH1/2) as contributing to the pathogenesis of MS and OD. Occasionally, patients with these disorders may also present with central nervous system (CNS) tumors; however, detailed genetic analyses are limited. In this article, the authors report on a male patient with MS, harboring three CNS tumors that share a common genetic alteration. Over a 9-year period, three separate tumor resections were conducted for sellar, intraparenchymal brainstem, and osseous clival tumors. The histopathological diagnoses were pituitary adenoma, diffuse astrocytoma, and chondrosarcoma, respectively. Sanger sequencing revealed a common IDH1 R132C mutation among all three CNS tumors but not in blood DNA. Administering chemotherapy (nimustine) and subsequent radiation therapy to the brainstem glioma and the residual lesion in the clivus have kept the patient progression free for 18 months. This is the first report demonstrating an IDH1 mutation shared among three different CNS tumors in a single patient with MS. The findings support the hypothesis that in MS and OD, a single common IDH1 mutation triggers tumorigenesis in cells of different origins and locations in a somatic mosaic fashion.


Assuntos
Neoplasias do Tronco Encefálico/cirurgia , Encondromatose/cirurgia , Isocitrato Desidrogenase , Mutação , Sela Túrcica/cirurgia , Neoplasias da Base do Crânio/cirurgia , Adulto , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Neoplasias do Tronco Encefálico/genética , Neoplasias do Sistema Nervoso Central/complicações , Neoplasias do Sistema Nervoso Central/diagnóstico por imagem , Neoplasias do Sistema Nervoso Central/cirurgia , Encondromatose/diagnóstico por imagem , Encondromatose/genética , Humanos , Isocitrato Desidrogenase/genética , Masculino , Mutação/genética , Sela Túrcica/diagnóstico por imagem , Neoplasias da Base do Crânio/diagnóstico por imagem , Neoplasias da Base do Crânio/genética
20.
BMJ Case Rep ; 11(1)2018 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-30567204

RESUMO

A 58-year-old man with a history of recurrent aphthous ulcers since childhood was admitted to the hospital with acute neurological decline characterised by loss of motor dexterity, dysarthria, dysphagia and unsteady gait. MRI brain was significant for symmetrical hyperintense T2 fluid attenuated inversion recovery (FLAIR) in the corticospinal tracts, including parts of the pons and the mesodiencephalic junction. Though initial concern was for neuro-Behçet's disease, brain biopsy ultimately revealed a diagnosis of astrocytoma. This report demonstrates a mimic of neuro-Behçet's disease and the importance of confirming the correct diagnosis prior to initiating therapy.


Assuntos
Astrocitoma/diagnóstico , Síndrome de Behçet/diagnóstico , Neoplasias do Tronco Encefálico/diagnóstico , Astrocitoma/diagnóstico por imagem , Astrocitoma/radioterapia , Biópsia , Encéfalo/diagnóstico por imagem , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Neoplasias do Tronco Encefálico/radioterapia , Diagnóstico Diferencial , Evolução Fatal , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Recidiva , Estomatite Aftosa/etiologia
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