RESUMO
BACKGROUND: Spinal intradural tumors are rare and heterogeneous in histological type, aggressiveness, and symptomatology, and there is a lack of data about them. This study investigated the epidemiological features of spinal intradural tumors. METHODS: This retrospective analysis included patients with spinal intradural tumors who underwent surgical treatment at the Myelopathy and Spondylosis Ward Beijing Jishuitan Hospital between January 2012 and December 2022. RESULTS: This study included 1321 patients [aged 47.19 ± 14.90 years, 603 (45.65%) males] with spinal intradural tumors. The most common histological subtype was schwannoma [n = 511 (38.68%)], followed by spinal meningioma [n = 184 (13.93%)] and ependymoma [n = 101 (7.65%)]. Fifteen (1.14%) patients were diagnosed with metastatic spinal intradural tumors as a presentation of another primary cancer type. The spinal intradural tumors were mostly found in the lumbar region [n = 436 (33.01%)], followed by the thoracic vertebrae [n = 390 (29.52%)], cervical vertebrae [n = 154 (11.66%)], and thoracolumbar region [n = 111 (8.40%)]. Schwannomas mostly affected the lumbar region [n = 256 (52.64%)], spinal meningiomas in the thoracic region [n = 153 (83.15)], and ependymomas in the lumbar region [56 (55.45%)]. The de novo metastases were mostly found in the lumbar region [n = 8 (53.33%)]. CONCLUSION: According to the results of our single-center study, the most common spinal intradural tumor in Northern China is schwannoma, followed by spinal meningioma and ependymoma.
Assuntos
Ependimoma , Meningioma , Neurilemoma , Neoplasias da Medula Espinal , Humanos , Masculino , Pessoa de Meia-Idade , Feminino , Estudos Retrospectivos , Adulto , Neoplasias da Medula Espinal/epidemiologia , Neoplasias da Medula Espinal/cirurgia , Ependimoma/epidemiologia , Ependimoma/cirurgia , Ependimoma/patologia , Idoso , Meningioma/epidemiologia , Meningioma/cirurgia , Meningioma/patologia , Pequim/epidemiologia , Neurilemoma/epidemiologia , Neurilemoma/cirurgia , Neurilemoma/patologia , Adulto Jovem , Vértebras Cervicais/cirurgia , Vértebras Cervicais/patologia , Neoplasias Meníngeas/epidemiologia , Neoplasias Meníngeas/cirurgia , Neoplasias Meníngeas/patologia , Adolescente , Idoso de 80 Anos ou mais , Vértebras Torácicas/cirurgia , Vértebras Torácicas/patologiaRESUMO
Alterations in miRNA levels have been observed in various types of cancer, impacting numerous cellular processes and increasing their potential usefulness in combination therapies also in brain tumors. Recent advances in understanding the genetics and epigenetics of brain tumours point to new aberrations and associations, making it essential to continually update knowledge and classification. Here we conducted molecular analysis of 123 samples of childhood brain tumors (pilocytic astrocytoma, medulloblastoma, ependymoma), focusing on identification of genes that could potentially be regulated by crucial representatives of OncomiR-1: miR-17-5p and miR-20a-5p. On the basis of microarray gene expression analysis and qRTPCR profiling, we selected six (WEE1, CCND1, VEGFA, PTPRO, TP53INP1, BCL2L11) the most promising target genes for further experiments. The WEE1, CCND1, PTPRO, TP53INP1 genes showed increased expression levels in all tested entities with the lowest increase in the pilocytic astrocytoma compared to the ependymoma and medulloblastoma. The obtained results indicate a correlation between gene expression and the WHO grade and subtype. Furthermore, our analysis showed that the integration between genomic and epigenetic pathways should now point the way to further molecular research.
Assuntos
Neoplasias Encefálicas , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Redes Reguladoras de Genes , MicroRNAs , Humanos , MicroRNAs/genética , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Criança , Masculino , Feminino , Adolescente , Pré-Escolar , Meduloblastoma/genética , Meduloblastoma/patologia , Astrocitoma/genética , Astrocitoma/patologia , Ependimoma/genética , LactenteAssuntos
Ependimoma , Neoplasias Supratentoriais , Proteínas de Sinalização YAP , Humanos , Ependimoma/diagnóstico por imagem , Ependimoma/diagnóstico , Ependimoma/genética , Lactente , Neoplasias Supratentoriais/diagnóstico por imagem , Neoplasias Supratentoriais/genética , Neoplasias Supratentoriais/patologia , Imageamento por Ressonância Magnética , Masculino , Fatores de Transcrição/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , FemininoRESUMO
Ependymal and choroid plexus tumours arise in anatomically related regions. Their intraoperative differential diagnosis is large and depends on factors such as age, tumour site and clinical presentation. Squash cytology can provide valuable information in this context. Cytological features of conventional ependymomas, subependymomas and myxopapillary ependymomas as well as choroid plexus tumours are reviewed and illustrated. Differential diagnostic considerations integrating morphological and clinical information are discussed.
Assuntos
Neoplasias do Plexo Corióideo , Ependimoma , Humanos , Neoplasias do Plexo Corióideo/patologia , Neoplasias do Plexo Corióideo/diagnóstico , Ependimoma/patologia , Ependimoma/diagnóstico , Citodiagnóstico/métodos , Diagnóstico Diferencial , Plexo Corióideo/patologia , Epêndima/patologia , FemininoRESUMO
OBJECTIVES: Intraoperative ultrasonography (IOUS) offers the advantage of providing real-time imaging features, yet it is not generally used. This study aims to discuss the benefits of utilizing IOUS in spinal cord surgery and review related literature. MATERIALS AND METHODS: Patients who underwent spinal cord surgery utilizing IOUS at a single institution were retrospectively collected and analyzed to evaluate the benefits derived from the use of IOUS. RESULTS: A total of 43 consecutive patients were analyzed. Schwannoma was the most common tumor (35%), followed by cavernous angioma (23%) and ependymoma (16%). IOUS confirmed tumor extent and location before dura opening in 42 patients (97.7%). It was particularly helpful for myelotomy in deep-seated intramedullary lesions to minimize neural injury in 13 patients (31.0% of 42 patients). IOUS also detected residual or hidden lesions in 3 patients (7.0%) and verified the absence of hematoma post-tumor removal in 23 patients (53.5%). In 3 patients (7.0%), confirming no intradural lesions after removing extradural tumors avoided additional dural incisions. IOUS identified surrounding blood vessels and detected dural defects in one patient (2.3%) respectively. CONCLUSIONS: The IOUS can be a valuable tool for spinal cord surgery in identifying the exact location of the pathologic lesions, confirming the completeness of surgery, and minimizing the risk of neural and vascular injury in a real-time fashion.
Assuntos
Neoplasias da Medula Espinal , Medula Espinal , Ultrassonografia , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Idoso , Neoplasias da Medula Espinal/cirurgia , Neoplasias da Medula Espinal/diagnóstico por imagem , Estudos Retrospectivos , Ultrassonografia/métodos , Medula Espinal/diagnóstico por imagem , Medula Espinal/cirurgia , Adolescente , Adulto Jovem , Neurilemoma/cirurgia , Neurilemoma/diagnóstico por imagem , Criança , Ependimoma/cirurgia , Ependimoma/diagnóstico por imagem , Procedimentos Neurocirúrgicos/métodos , Procedimentos Neurocirúrgicos/efeitos adversosRESUMO
Bidirectional communication between tumours and neurons has emerged as a key facet of the tumour microenvironment that drives malignancy1,2. Another hallmark feature of cancer is epigenomic dysregulation, in which alterations in gene expression influence cell states and interactions with the tumour microenvironment3. Ependymoma (EPN) is a paediatric brain tumour that relies on epigenomic remodelling to engender malignancy4,5; however, how these epigenetic mechanisms intersect with extrinsic neuronal signalling during EPN tumour progression is unknown. Here we show that the activity of serotonergic neurons regulates EPN tumorigenesis, and that serotonin itself also serves as an activating modification on histones. We found that inhibiting histone serotonylation blocks EPN tumorigenesis and regulates the expression of a core set of developmental transcription factors. High-throughput, in vivo screening of these transcription factors revealed that ETV5 promotes EPN tumorigenesis and functions by enhancing repressive chromatin states. Neuropeptide Y (NPY) is one of the genes repressed by ETV5, and its overexpression suppresses EPN tumour progression and tumour-associated network hyperactivity through synaptic remodelling. Collectively, this study identifies histone serotonylation as a key driver of EPN tumorigenesis, and also reveals how neuronal signalling, neuro-epigenomics and developmental programs are intertwined to drive malignancy in brain cancer.
Assuntos
Carcinogênese , Ependimoma , Regulação Neoplásica da Expressão Gênica , Histonas , Fatores de Transcrição , Histonas/metabolismo , Animais , Carcinogênese/genética , Carcinogênese/patologia , Carcinogênese/metabolismo , Camundongos , Humanos , Ependimoma/genética , Ependimoma/metabolismo , Ependimoma/patologia , Fatores de Transcrição/metabolismo , Masculino , Feminino , Proteínas de Ligação a DNA/metabolismo , Proteínas de Ligação a DNA/genética , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/metabolismo , Epigênese Genética , Cromatina/metabolismo , Cromatina/genética , Microambiente Tumoral , Linhagem Celular Tumoral , Progressão da DoençaRESUMO
OBJECTIVE: Query the National Cancer Database (NCDB) to delineate epidemiologic frequency, care patterns, and survival outcomes of pediatric intramedullary spinal cord tumors (IMSCTs). METHODS: IMSCTs included ependymoma, astrocytoma, and hemangioblastoma. We examined data from the NCDB spanning 2004-2018, focusing on IMSCT in children aged 0-21 years. Our analysis included logistic and Poisson regression, Kaplan-Meier survival estimates, and Cox proportional hazards models. RESULTS: This study included 1066 patients aged 0-21 years. 59.4â¯% of patients were male, while 83.1â¯% were white. The most common tumor histology was ependymoma (57.5â¯%), followed by astrocytoma (36.1â¯%) and hemangioblastoma (6.4â¯%). 24.9â¯% of patients received radiotherapy, with radiotherapy utilization being highest among patients aged 6-10 years. Chemotherapy utilization was highest in patients aged 0-5 years. 87.2â¯% of patients underwent surgical resection, with higher rates in patients aged 16-21 years. Overall survival did not differ significantly between resected and non-resected patients (p = 0.315). Patients in rural areas had worse OS than those in metro areas (HR = 4.42, p = 0.048). Patients with astrocytoma had worse OS compared to other histologies (HR = 2.21, p = 0.003). Astrocytoma patients were over twice as likely to have prolonged LOS compared to ependymoma patients (OR = 2.204, p < 0.001). CONCLUSIONS: In summary, our analysis utilizing the NCDB database provides a comprehensive overview of demographics, care patterns, and outcomes for the largest cohort of pediatric IMSCTs to date. These insights underscore the complexity of managing IMSCTs and emphasize the need for tailored approaches to improve patient outcomes.
Assuntos
Astrocitoma , Bases de Dados Factuais , Ependimoma , Neoplasias da Medula Espinal , Humanos , Adolescente , Masculino , Criança , Feminino , Neoplasias da Medula Espinal/terapia , Neoplasias da Medula Espinal/epidemiologia , Neoplasias da Medula Espinal/mortalidade , Lactente , Pré-Escolar , Adulto Jovem , Astrocitoma/terapia , Astrocitoma/mortalidade , Astrocitoma/epidemiologia , Ependimoma/terapia , Ependimoma/mortalidade , Ependimoma/epidemiologia , Recém-Nascido , Estados Unidos/epidemiologia , Hemangioblastoma/terapia , Hemangioblastoma/epidemiologia , Taxa de SobrevidaRESUMO
Core-shell particles composed of polycaprolactone/polyvinyl alcohol (PCL/PVA) with pH sensitive properties were successfully fabricated by co-axial electrospraying in which PVA and PCL formed the shell and core layers respectively. The core-shell structure was confirmed by FTIR, DSC and SEM analysis. No chemical interaction between PVA and PCL core-shell were observed in the FTIR analysis. The RAD001 loaded core-shell particles showed a sustained and pH dependent drug release and was assayed via our previously developed HPLC method. After indirect treatment of the PF-A cells with the core-shell particles for 24 h and 5 days a decrease in cell viability was observed. Additionally, a comparison was made with our previously developed nanoparticles containing 2 %PVA-14 %SOL®-0.6 % RAD001, for the cell viability study on ependymoma. Our findings show that optimised core-shell particles exerted a significant effect for the 24 h and 5 day treatment however further studies are required to ensure toxicity of the control core-shell particles with no drug is reduced. In comparison, the 2 %PVA-14 %SOL®-0.6 %RAD001 uniaxial electrosprayed nanoparticles also exerted a toxicity effect decreasing cell viability with no toxicity observed for the control nanoparticles as well. Such pH-sensitive core-shell particles, which can degrade effectively in either acidic or neutral condition, have great potential for application in the biomedical field.
Assuntos
Neoplasias Encefálicas , Sobrevivência Celular , Nanopartículas , Poliésteres , Álcool de Polivinil , Álcool de Polivinil/química , Poliésteres/química , Sobrevivência Celular/efeitos dos fármacos , Neoplasias Encefálicas/tratamento farmacológico , Humanos , Linhagem Celular Tumoral , Nanopartículas/química , Concentração de Íons de Hidrogênio , Liberação Controlada de Fármacos , Criança , Portadores de Fármacos/química , Ependimoma/tratamento farmacológico , Tamanho da PartículaRESUMO
BACKGROUND AND PURPOSE: The aim of this study was to determine the diagnostic value of fractional plasma volume derived from dynamic contrast-enhanced perfusion MR imaging versus ADC, obtained from DWI in differentiating between grade 2 (low-grade) and grade 3 (high-grade) intracranial ependymomas. MATERIALS AND METHODS: A hospital database was created for the period from January 2013 through June 2022, including patients with histologically-proved ependymoma diagnosis with available dynamic contrast-enhanced MR imaging. Both dynamic contrast-enhanced perfusion and DWI were performed on each patient using 1.5T and 3T scanners. Fractional plasma volume maps and ADC maps were calculated. ROIs were defined by a senior neuroradiologist manually by including the enhancing tumor on every section and conforming a VOI to obtain the maximum value of fractional plasma volume (Vpmax) and the minimum value of ADC (ADCmin). A Mann-Whitney U test at a significance level of corrected P = .01 was used to evaluate the differences. Additionally, receiver operating characteristic curve analysis was applied to assess the sensitivity and specificity of Vpmax and ADCmin values. RESULTS: A total of 20 patients with ependymomas (10 grade 2 tumors and 10 grade 3 tumors) were included. Vpmax values for grade 3 ependymomas were significantly higher (P < .002) than those for grade 2. ADCmin values were overall lower in high-grade lesions. However, no statistically significant differences were found (P = .12114). CONCLUSIONS: As a dynamic contrast-enhanced perfusion MR imaging metric, fractional plasma volume can be used as an indicator to differentiate grade 2 and grade 3 ependymomas. Dynamic contrast-enhanced perfusion MR imaging plays an important role with high diagnostic value in differentiating low- and high-grade ependymoma.
Assuntos
Neoplasias Encefálicas , Meios de Contraste , Imagem de Difusão por Ressonância Magnética , Ependimoma , Gradação de Tumores , Humanos , Ependimoma/diagnóstico por imagem , Ependimoma/patologia , Masculino , Feminino , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Adulto , Imagem de Difusão por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Adulto Jovem , Diagnóstico Diferencial , Imageamento por Ressonância Magnética/métodos , Idoso , Sensibilidade e Especificidade , Adolescente , Criança , Estudos RetrospectivosAssuntos
Neoplasias Encefálicas , Ependimoma , Neoplasias Neuroepiteliomatosas , Humanos , Ependimoma/patologia , Ependimoma/complicações , Ependimoma/diagnóstico , Neoplasias Neuroepiteliomatosas/patologia , Neoplasias Neuroepiteliomatosas/complicações , Neoplasias Neuroepiteliomatosas/diagnóstico por imagem , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/diagnóstico por imagem , CriançaAssuntos
Ependimoma , Neoplasias Infratentoriais , Lesões por Radiação , Adolescente , Humanos , Transtornos Cerebrovasculares/etiologia , Transtornos Cerebrovasculares/diagnóstico por imagem , Diagnóstico Diferencial , Ependimoma/radioterapia , Neoplasias Infratentoriais/radioterapia , Neoplasias Infratentoriais/diagnóstico por imagem , Imageamento por Ressonância Magnética , Lesões por Radiação/etiologia , Lesões por Radiação/diagnósticoRESUMO
BACKGROUND AND OBJECTIVES: Ependymoma is commonly classified as World Health Organization grade 2 with the anaplastic variant categorized as grade 3. Incomplete resection or anaplastic features can result in unfavorable outcomes. Stereotactic radiosurgery (SRS) provides a minimally invasive approach for recurrent ependymomas. Our study investigates the efficacy and safety of SRS for grade 2 and 3 ependymomas in pediatric and adult populations. METHODS: We conducted a retrospective analysis on 34 patients with 75 ependymomas after CyberKnife SRS between 1998 and 2023. Fourteen were pediatric (3-18 years), and 20 were adult (19-75 years) patients. The median age was 21 years, and the median tumor volume was 0.64 cc. The median single-fraction equivalent dose was 16.6 Gy, with SRS administered at 77% of the median isodose line. RESULTS: After a median follow-up of 42.7 months (range: 3.8-438.3), 22.7% of ependymomas progressed. The 5-year local tumor control rate was 78.1%, varying between 59.6% and 90.2% for children and adults, with grade 2 at 85.9% compared with 58.5% for grade 3 tumors. The 5-year overall survival rate was 73.6%, notably higher in adults (94.7%) than in children (41%), and 100% for grade 2 but decreased to 35.9% for grade 3 patients. The 5-year progression-free survival rate was 68.5%, with 78.3% and 49.2% for adults and children, respectively, and a favorable 88.8% for grade 2, contrasting with 32.6% for grade 3 patients. Symptom improvement was observed in 85.3% of patients. Adverse radiation effects occurred in 21.4% of pediatric patients. CONCLUSION: Our study supports SRS as a viable modality for pediatric and adult patients with grade 2 and 3 ependymomas. Despite lower local tumor control in pediatric and grade 3 cases, integrating SRS holds promise for improved outcomes. Emphasizing careful patient selection, personalized treatment planning, and long-term follow-up is crucial for optimal neurosurgical outcomes.
Assuntos
Neoplasias Encefálicas , Ependimoma , Radiocirurgia , Humanos , Ependimoma/cirurgia , Ependimoma/radioterapia , Radiocirurgia/métodos , Criança , Adulto , Adolescente , Masculino , Feminino , Pré-Escolar , Adulto Jovem , Estudos Retrospectivos , Pessoa de Meia-Idade , Idoso , Neoplasias Encefálicas/cirurgia , Neoplasias Encefálicas/radioterapia , Resultado do Tratamento , SeguimentosRESUMO
ABSTRACT: Ependymomas are rare glial tumors that commonly arise from the lining cells of ventricular system and constitute ~10% of intracranial pediatric malignancies. The incidence of ependymoma in adults is rare. Due to close approximation with the ventricular system, subtentorial ependymomas are more prone to show cerebrospinal fluid metastasis compared with supratentorial ependymomas. We present a case of subtentorial cerebellopontine angle ependymoma with diffuse spinal drop metastases showing "elongated pony tail appearance" in a 69-year-old man with complete metabolic response on 18 F-FDG PET/CT imaging following chemoradiotherapy.
Assuntos
Ângulo Cerebelopontino , Quimiorradioterapia , Ependimoma , Fluordesoxiglucose F18 , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Humanos , Masculino , Ependimoma/diagnóstico por imagem , Idoso , Ângulo Cerebelopontino/diagnóstico por imagem , Imagem Multimodal , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/secundárioRESUMO
Ependymomas are neuroepithelial tumours arising from ependymal cells surrounding the cerebral ventricles that rarely metastasise to extraneural structures. This spread has been reported to occur to the lungs, lymph nodes, liver and bone. We describe the case of a patient with recurrent CNS WHO grade 3 ependymoma with extraneural metastatic disease. He was treated with multiple surgical resections, radiation therapy and salvage chemotherapy for his extraneural metastasis to the lungs, bone, pleural space and lymph nodes.
Assuntos
Neoplasias Ósseas , Ependimoma , Neoplasias Pulmonares , Neoplasias Pleurais , Humanos , Masculino , Ependimoma/secundário , Ependimoma/patologia , Ependimoma/diagnóstico por imagem , Neoplasias Pulmonares/secundário , Neoplasias Pulmonares/patologia , Neoplasias Pleurais/secundário , Neoplasias Pleurais/patologia , Neoplasias Pleurais/diagnóstico por imagem , Neoplasias Ósseas/secundário , Metástase Linfática/diagnóstico por imagem , Neoplasias Encefálicas/secundário , Neoplasias Encefálicas/diagnóstico por imagem , Linfonodos/patologia , Linfonodos/diagnóstico por imagemAssuntos
Ependimoma , Neoplasias da Medula Espinal , Humanos , Ependimoma/genética , Ependimoma/patologia , Neoplasias da Medula Espinal/genética , Neoplasias da Medula Espinal/patologia , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Adolescente , Criança , Adulto Jovem , Pré-Escolar , IdosoRESUMO
BACKGROUND: Ependymomas in the fourth ventricle in adults are rare entity. Surgical treatment of adult ependymomas is the only treatment modality since no other effective alternative is available. Radical resection often means cure but it is hindered by the nature and location of the lesion. METHODS: Technical aspects of the fourth ventricle ependymoma surgery in adults are discussed. Anatomy of the area is provided with the step-by-step surgical algorithm. CONCLUSION: Radical resection of low-grade ependymoma with a detailed understanding of the anatomy in this area is vital considering the high effectiveness of the treatment and its excellent prognosis.
Assuntos
Neoplasias do Ventrículo Cerebral , Ependimoma , Quarto Ventrículo , Procedimentos Neurocirúrgicos , Humanos , Ependimoma/cirurgia , Ependimoma/patologia , Ependimoma/diagnóstico por imagem , Quarto Ventrículo/cirurgia , Quarto Ventrículo/diagnóstico por imagem , Quarto Ventrículo/patologia , Neoplasias do Ventrículo Cerebral/cirurgia , Neoplasias do Ventrículo Cerebral/patologia , Neoplasias do Ventrículo Cerebral/diagnóstico por imagem , Adulto , Procedimentos Neurocirúrgicos/métodosRESUMO
PURPOSE: Multiple endocrine neoplasia type 1 (MEN1) is thought to increase the risk of meningioma and ependymoma. Thus, we aimed to describe the frequency, incidence, and specific clinical and histological features of central nervous system (CNS) tumors in the MEN1 population (except pituitary tumors). EXPERIMENTAL DESIGN: The study population included patients harboring CNS tumors diagnosed with MEN1 syndrome after 1990 and followed up in the French MEN1 national cohort. The standardized incidence ratio (SIR) was calculated based on the French Gironde CNS Tumor Registry. Genomic analyses were performed on somatic DNA from seven CNS tumors, including meningiomas and ependymomas from patients with MEN1, and then on 50 sporadic meningiomas and ependymomas. RESULTS: A total of 29 CNS tumors were found among the 1,498 symptomatic patients (2%; incidence = 47.4/100,000 person-years; SIR = 4.5), including 12 meningiomas (0.8%; incidence = 16.2/100,000; SIR = 2.5), 8 ependymomas (0.5%; incidence = 10.8/100,000; SIR = 17.6), 5 astrocytomas (0.3%; incidence = 6.7/100,000; SIR = 5.8), and 4 schwannomas (0.3%; incidence = 5.4/100,000; SIR = 12.7). Meningiomas in patients with MEN1 were benign, mostly meningothelial, with 11 years earlier onset compared with the sporadic population and an F/M ratio of 1/1. Spinal and cranial ependymomas were mostly classified as World Health Organization grade 2. A biallelic MEN1 inactivation was observed in 4/5 ependymomas and 1/2 meningiomas from patients with MEN1, whereas MEN1 deletion in one allele was present in 3/41 and 0/9 sporadic meningiomas and ependymomas, respectively. CONCLUSIONS: The incidence of each CNS tumor was higher in the MEN1 population than in the French general population. Meningiomas and ependymomas should be considered part of the MEN1 syndrome, but somatic molecular data are missing to conclude for astrocytomas and schwannomas.
Assuntos
Neoplasias do Sistema Nervoso Central , Neoplasia Endócrina Múltipla Tipo 1 , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasia Endócrina Múltipla Tipo 1/epidemiologia , Adolescente , Criança , Neoplasias do Sistema Nervoso Central/epidemiologia , Neoplasias do Sistema Nervoso Central/genética , Neoplasias do Sistema Nervoso Central/patologia , Incidência , Adulto Jovem , Estudos de Coortes , Pré-Escolar , Idoso , Meningioma/genética , Meningioma/epidemiologia , Meningioma/patologia , França/epidemiologia , Lactente , Ependimoma/genética , Ependimoma/epidemiologia , Ependimoma/patologia , Mutação , Sistema de RegistrosRESUMO
OBJECTIVE: More than one-third of pediatric patients who undergo resection of intradural spine lesions develop progressive postoperative deformity, with as many as half of these patients subsequently requiring surgical fusion. Intradural spinal procedures with simultaneous instrumented fusion in children, however, are infrequently performed. Moreover, the rationale for patient selection, outcomes, and safety of this single-stage surgery in children has not been systematically investigated. In this study, the authors review the practice of simultaneous intradural spinal resection and instrumented fusion in pediatric patients and provide two representative case examples from their institution. METHODS: The authors searched the PubMed and Embase databases and performed a systematic review following the PRISMA protocol. Original articles of pediatric patients (age ≤ 18 years) who underwent intradural spine surgery, regardless of pathology, with concomitant instrumented fusion and reported outcomes were included. An institutional database of all spinal operations with instrumented fusion performed in patients aged ≤ 18 years over a 3-year period was screened to identify those who underwent intradural spine surgery with concomitant fusion. RESULTS: Nine patients (median age 12 years) from 6 studies who underwent intradural lesion resection and concomitant fusion met inclusion criteria. Among all 11 patients included, primary rationales for concomitant fusion were extensive bone removal (i.e., corpectomy or total facetectomy, 73%), concerns for deformity in the setting of multilevel laminectomy/laminoplasty (18%), and severe baseline deformity (9%). The most represented pathology was neurenteric cyst (55%) followed by schwannoma (18%). Myxopapillary ependymoma, granular cell tumor, and pilocytic astrocytoma each were seen in 1 case. Seven patients (64%) underwent an anterior-approach corpectomy, tumor resection, and fusion, while the remaining 4 patients (36%) underwent a posterior approach. All patients with at least 1 year of follow-up cases achieved bony fusion. CSF leak and new-onset neurological deficit each occurred in 9% (1/11). CONCLUSIONS: The rationales for performing single-stage intradural resection and fusion in pediatric patients in studies to date include the presence of severe baseline deformity, large extent of bone resection, and multilevel laminectomy/laminoplasty across cervicothoracic or thoracolumbar junctions. As current literature involving this cohort is limited, more data are needed to determine when concomitant fusion in intradural resections is appropriate in pediatric patients and whether its routine implementation is safe or beneficial.
Assuntos
Neoplasias da Medula Espinal , Fusão Vertebral , Humanos , Fusão Vertebral/métodos , Criança , Adolescente , Masculino , Feminino , Neoplasias da Medula Espinal/cirurgia , Ependimoma/cirurgia , Laminectomia/métodos , Resultado do Tratamento , Procedimentos Neurocirúrgicos/métodos , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgiaRESUMO
BACKGROUND: Intramedullary spinal cord tumors (IMSCTs) are a rare subgroup of neoplasms, encompassing both benign, slow-growing masses, and malignant lesions; radical surgical excision represents the cornerstone of treatment for such pathologies regardless of histopathology, which, on the other hand, is a known predictor of survival and neurologic outcome postsurgery. The present study aims to investigate the relevance of other factors in predicting survival and long-term functional outcomes. METHODS: We conducted a review of current literature on functional outcomes of IMSCTs, as well as a 10-years prospective analysis of a wide cohort of patients with diagnosis of IMSCTs who underwent surgical resection at our institution. RESULTS: Our series encompasses 60 patients with IMSCTS, among which 36 ependymomas, 6 cavernous angiomas, 5 hemangioblastomas, 6 WHO Grade I-IV astrocytomas, 3 intramedullary spinal metastases and 4 miscellaneous tumors. GTR was achieved in 76,67% of patients, with high preoperative McCormick grade, syringomyelia and changes at neurophysiologic monitoring being the strongest predictors at multivariate analysis (P = 0.0027, P = 0.0017 and P = 0.001 respectively). CONCLUSIONS: Consistently with literature, preoperative neurologic function is the most important factor predicting long-term functional outcome (0.17, CI 0.069-0.57 with P = 0.0018), advocating for early surgery in the management of IMSCTs, whereas late complications such as myelopathy and neuropathic pain were present regardless of preoperative function.