RESUMO
To describe the natural history of spinal gangliogliomas (GG) in order to determine the most appropriate neuro-oncological management. A Medline search for relevant publications up to July 2023 using the key phrase "ganglioglioma spinal" and "ganglioglioma posterior fossa" led to the retrieval of 178 studies. This corpus provided the basis for the present review. As an initial selection step, the following inclusion criteria were adopted: (i) series and case reports on spinal GG; (ii) clinical outcomes were reported specifically for GG; (iii) GG was the only pathological diagnosis for the evaluation of the tumor; (iv) papers written only in English was evaluated; and (v) papers describing each case in the series were included. The World Health Organization (WHO) 2021 grading criteria for gangliogliomas were applied. A total of 107 tumors were evaluated (63 from male patients and 44 from female patients; 1.43 male/1.0 female ratio, mean age 18.34 ± 15.84 years). The most common site was the cervical spine, accounting for 43 cases (40.18%); GTR was performed in 35 cases (32.71%) and STR in 71 cases (66.35%), while this information was not reported in 1 case (0.94%). 8 deaths were reported (7.47%) involving 2 males (25%) and 6 females (75%) aged 4-78 years (mean 34.27 ± 18.22) years. GGs located on the spine displayed the same gender ratio as these tumors in general. The most frequent symptom was pain and motor impairment, while the most prevalent location was the cervical spinal cord. GTR of the tumor posed a challenge for neurosurgeons, due to the difficulty of resecting the lesion without damaging the spinal eloquent area, explaining the lower rate of cure for this tumor type.
Assuntos
Neoplasias Encefálicas , Ganglioglioma , Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Ganglioglioma/cirurgia , Ganglioglioma/diagnóstico , Ganglioglioma/patologia , Resultado do Tratamento , Recidiva Local de Neoplasia/patologia , Neoplasias Encefálicas/cirurgiaRESUMO
Anaplastic gangliogliomas (AGG) are rare tumors of the central nervous system (CNS) that commonly affect children and young adults, with an unusual infratentorial presentation, which is related to hydrocephalus and a worse prognosis. We report a case of a brainstem AGG in a 2-year-old boy who underwent a ventriculoperitoneal shunting (VPS) and later presented peritoneal metastasis. We also reviewed the related literature. Even though rare, disease dissemination through VPS should be sought in patients with CNS tumors and VPS who develop new abdominal symptoms. The early diagnosis and intervention may minimize morbidity and improve quality of life of such patients.
Assuntos
Neoplasias Encefálicas , Neoplasias do Sistema Nervoso Central , Ganglioglioma , Hidrocefalia , Neoplasias Peritoneais , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Tronco Encefálico/patologia , Neoplasias do Sistema Nervoso Central/cirurgia , Criança , Pré-Escolar , Ganglioglioma/complicações , Ganglioglioma/diagnóstico por imagem , Ganglioglioma/cirurgia , Humanos , Hidrocefalia/cirurgia , Masculino , Neoplasias Peritoneais/complicações , Neoplasias Peritoneais/diagnóstico por imagem , Neoplasias Peritoneais/cirurgia , Qualidade de Vida , Derivação Ventriculoperitoneal/efeitos adversosRESUMO
BACKGROUND: Gangliogliomas are rare tumors of the central nervous system. They are usually located intracranially and rarely in the spinal cord. There is no clear correlation between this tumor and neurofibromatosis type 1 (NF1) with only four cases described. The aim of this article is to describe one more case and add data to the literature regarding this rare association. CASE DESCRIPTION: An 8-year-old boy with NF1 presented progressive asymmetrical paraparesis (Grade 4 medical research council scale on the right leg and Grade 3 on the left leg). The cervicothoracic spinal magnetic resonance imaging demonstrated an intramedullary lesion from C4 to T4 vertebrae. The patient underwent a microsurgical resection. A partial resection was performed due to a drop in the motor evoked potential signal amplitude during dissection. Pathology report revealed a ganglioglioma (World Health Organization Grade I). Postoperatively, the patient evolved with worsening of the paraparesis. A few weeks later, he has improved his preoperative functional neurological state (better strength and gait). Adjuvant radiotherapy was not used. The patient is being followed up at the neurosurgery outpatient clinic. CONCLUSION: This is another case of spinal ganglioglioma associated with NF1. The tumor must be included in the differential diagnosis of patients with NF1 and spinal lesions. Complete microsurgical resection remains the standard treatment for spinal gangliogliomas, however, in this specific case, it was decided to leave a portion of the tumor to prevent neurological damage. The prognosis and treatment of this condition associated with NF1 remains to be determined.
RESUMO
Abstract Grade III anaplastic ganglioglioma is an aggressive, rare, and radiosensitive central nervous system (CNS) tumour. It is more common in males, with a ratio of 1.3 to 1. Its peak incidence is in the third decade of life. Only 10 cases were recorded in children in Colombia from 2000 to 2014, with a fatal outcome in spite of radiation therapy. This is a case of an adolescent, who began having headaches, with warning signs related to an arteriovenous malformation hindering the diagnosis of this rare tumour. This presented in its aggressive, multi-focus form. Knowledge of clinical manifestations of space-occupying intracranial lesions facilitates the assessment and treatment of affected children.
Resumen El ganglioglioma anaplásico grado III es un tumor del sistema nervioso central (SNC) agresivo, infrecuente y radiosensible. Afecta más a hombres en una relación 1,3 a 1. Su pico de incidencia se encuentra en la tercera década de la vida. Existen solo 10 casos registrados en niños en Colombia desde el 2000 al 2014, con desenlace fatal a pesar de la radioterapia. Se presenta un caso de un adolescente que debutó con cefalea con signos de alarma asociado a una malformación arteriovenosa que dificultó el diagnóstico de este raro tumor, cuya presentación fue la más agresiva: la forma multicéntrica. El conocer las manifestaciones clínicas de lesiones intracraneales ocupantes de espacio facilita la evaluación y tratamiento a los niños afectados.
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Humanos , Masculino , Adolescente , Malformações Arteriovenosas , Radioterapia , Adolescente , Ganglioglioma , Cefaleia , Terapêutica , NeoplasiasRESUMO
Introduction Gangliogliomas are tumors commonly found in the temporal lobe and related to seizures; their appearance in the pineal region is rarely described. This report characterizes the first case of anaplastic ganglioglioma of the pineal region. Case Report The authors describe the case of a 32-year-old woman that developed progressive headache. An MRI investigation revealed a pineal tumor. The patient tested negative for biomarkers and underwent surgery through supracerebellar infratentorial approach and achieved gross total resection of the tumor in a challenging location. Pathological analysis revealed a biphasic neoplasm with the following two distinct phenotypes in separate fields: an immature neuronal component with several atypical mitoses and a mature astrocytic component with bipolar cells, microcysts, and eosinophilic bodies. The Ki67/MIB1 proliferation index was 2030% in localized hotspots. Based on the pathological findings, the tumor was defined as an anaplastic ganglioglioma World Health Organization (WHO) grade III. Discussion/Conclusion Gangliogliomas are classified as glioneural neoplasms based on the histologic findings described as a mixture of neoplastic astrocytes and neurons. Moreover, these tumors represent 0.41.3% of tumors of the central nervous system. Authors describe de novo anaplastic ganglioglioma as 1% of the largest series. Gross total resection and adjuvant treatment may play important role in patients' prognostic. In this case, due to the malignant anaplastic component of her tumor, the patient received treatment with temozolamide and radiotherapy after gross total resection of the lesion.
Introdução Gangliogliomas são tumores comumente encontrados no lobo temporal e se relacionam com crises epilépticas; o aparecimento desses tumores na região da pineal é raramente descrito. Este relato caracteriza o primeiro caso de ganglioglioma anaplásico da região da pineal. Relato de Caso Paciente do sexo feminino, 32 anos, apresentou-se com cefaleia de piora progressiva. Investigação com ressonância magnética revelou tumor na região da pineal. Os biomarcadores para tumores da pineal foram negativos e a paciente foi submetida a microcirurgia com o acesso supracerebelar e infratentorial atingindo ressecção total da lesão. A análise patológica revelou neoplasia bifásica com dois fenótipos distintos em campos separados: um componente era composto por células neuronais imaturas com inúmeras mitoses atípicas e o segundo componente era composto por astrócitos maduros, microcistos e corpos eosinofílicos. Foi encontrado um índice proliferativo Ki67/M1B1 de 2030%. Baseado nos achados anatomopatológicos, o tumor foi definido como ganglioglioma anaplásico grau III da OMS. Discussão/Conclusão Gangliogliomas são classificados como neoplasias glioneurais baseado nos achados histológicos descritos como misto de neoplasia neuronal e glial; esses tumores representam 0,41,3% de todos os tumores do sistema nervoso central. Ganglioglioma anaplásico de novo tem sido descrido em 1% nas maiores series de gangliogliomas. Ressecção total da lesão e tratamento adjuvante desempenham um papel importante no prognóstico dos pacientes. Devido ao componente anaplásico do tumor em questão, a paciente foi tratada com temozolamida e radioterapia após ressecção total da lesão.
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Humanos , Feminino , Adulto , Glândula Pineal , Ganglioglioma , AnaplasiaRESUMO
Subcortical epilepsy has been a controversial issue, partially settled by evidence showing seizure generation in hypothalamic hamartomas and also by reports of seizures caused by cerebellar lesions. We report 4-year-old girl with right hemifacial seizures and autonomic phenomena, in whom MRI showed an irregular mass in the right cerebellar peduncle. Despite several unremarkable video-EEG recordings, seizure origin in the lesion was hypothesized. Complete resection was feasible, histopathology showed a ganglioglioma, and she has been seizure free for 3 years. A fine line separates these developmental tumors from focal cortical dysplasia, and the homogeneous presentation of this entity led us to propose the terminology dysplastic cerebellar epilepsy.
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Neoplasias Cerebelares/cirurgia , Cerebelo/cirurgia , Epilepsia/cirurgia , Ganglioglioma/cirurgia , Convulsões/cirurgia , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/fisiopatologia , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Cerebelo/fisiopatologia , Pré-Escolar , Epilepsia/diagnóstico por imagem , Epilepsia/etiologia , Epilepsia/fisiopatologia , Feminino , Ganglioglioma/complicações , Ganglioglioma/diagnóstico por imagem , Ganglioglioma/fisiopatologia , Humanos , Convulsões/diagnóstico por imagem , Convulsões/etiologia , Convulsões/fisiopatologia , Resultado do TratamentoRESUMO
Brainstem gangliogliomas (GGs), often cannot be resected, have a much poorer prognosis than those located in more common supratentorial sites and may benefit from novel therapeutic approaches. Therapeutically targetable BRAF c.1799T>A (p.V600E) (BRAF(V600E) ) mutations are harbored in roughly 50% of collective GGs taken from all anatomical sites. Large numbers of pediatric brainstem GGs, however, have not been specifically assessed and anatomic-and age-restricted assessment of genetic and biological factors are becoming increasingly important. Pediatric brainstem GGs (n = 13), non-brainstem GGs (n = 11) and brainstem pilocytic astrocytomas (PAs) (n = 8) were screened by standard Sanger DNA sequencing of BRAF exon 15. Five of 13 (38%) pediatric GG harbored a definitive BRAF(V600E) mutation, with two others exhibiting an equivocal result by this method. BRAF(V600E) was also seen in five of 11 (45%) non-brainstem GGs and one of eight (13%) brainstem PAs. VE1 immunostaining for BRAF(V600E) showed concordance with sequencing in nine of nine brainstem GGs including the two cases equivocal by Sanger. The equivocal brainstem GGs were subsequently shown to harbor BRAF(V600E) using a novel, more sensitive, RNA-sequencing approach, yielding a final BRAF(V600E) mutation frequency of 54% (seven of 13) in brainstem GGs. BRAF(V600E) -targeted therapeutics should be a consideration for the high percentage of pediatric brainstem GGs refractory to conventional therapies.
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Neoplasias do Tronco Encefálico/genética , Ganglioglioma/genética , Proteínas Proto-Oncogênicas B-raf/genética , Adolescente , Neoplasias do Tronco Encefálico/patologia , Criança , Pré-Escolar , Éxons , Feminino , Ganglioglioma/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: The anaplastic ganglioglioma (AG) is the high-grade counterpart of ganglioglioma, a rare mixed tumor composed of neuronal/ganglion and glial cells. MATERIALS AND METHODS: We describe the histopathology and immunohistochemistry in 7 cases of AG and correlate them with the clinical and radiological features. RESULTS: Our AG patients correspond to 2.5% of the central nervous system tumor patients evaluated in our institution. The mean age at presentation was 25.7 years, with a male predominance. The most common clinical presentation was generalized tonic-clonic seizures (3/7 cases), in correlation with frequent cortical/subcortical location (6/7 cases). Histopathologically, all our cases showed high-grade features in glial (glial fibrillary acid protein-positive) and neuron-ganglion cells (synaptophysin, PGP-9.5, neurofilament, NSE and CD56-positive), as well as moderate cellularity, frequent mitotic figures and a Ki-67 labeling index >5%. All our patients had poor survival. CONCLUSION: We found that a typical histopathological and immunohistochemical profile is constant and can be useful in early diagnosis of these aggressive neoplasms.
Assuntos
Neoplasias Encefálicas/patologia , Ganglioglioma/patologia , Adulto , Criança , Feminino , Humanos , Imuno-Histoquímica , Masculino , Adulto JovemRESUMO
INTRODUCTION: Glial and neuroglial cell neoplasms comprise pilocytic astrocytoma (PA), pleomorphic xanthoastrocytoma (PXA) and ganglioglioma (GG), which share various similarities, though PA has better prognosis. As ganglion cells (GC) may be scarce in GG and these gangliogliomas may recur or progress to grade III, an accurate diagnosis is essential. OBJECTIVES: The aim was to identify GC and eosinophilic granular bodies (EGB) in PA and PXA, to evaluate its effect on patients outcome and compare them with GG. METHODS: A retrospective analysis of radiological, morphological and follow-up aspects (disease free-survival, recurrence and death) of 30 cases (14 PA, 8 PXA, 8 GG). Hematoxylin and eosin (HE) stained sections were reviewed to identify the presence of neoplastic GC and EGB. They were immunostained for synaptophysin (SYN) and neurofilament (NF). Glial fibrillary acidic protein (GFAP) immunostaining was performed in selected cases. RESULTS: Six PA were reclassified as GG due to the presence of GC by HE or immunohistochemistry. Some EGB resembling degenerate GC were also immunostained for SYN/NF and most of them were negative for GFAP. The mean disease-free survival was 62.16 months. Four tumors recurred and one patient died. All PXA had GC, suggesting that they were variants of GG, 4 of which recurred and one patient died. Mean disease-free survival was 69 months. The radiological aspect was predominantly cystic. CONCLUSION: We propose that PA and PXA with GC or with EGB immunopositive for neuronal markers could be variants of GG, and some EGB may represent degenerate GC. However, the presence of GC does not seem to modify the biological behavior of these neoplasms.
INTRODUÇÃO: As neoplasias circunscritas incluem astrocitoma pilocítico (AP), xantoastrocitoma pleomórfico (XP) e ganglioglioma (GG), que compartilham diversas semelhanças, sendo o AP o de melhor prognóstico. Como as células ganglionares (CG) no GG podem ser escassas e os GGs podem recidivar ou evoluir (grau III), é fundamental o diagnóstico preciso. OBJETIVOS: Identificar CG e corpos granulares eosinofílicos (CGE) em AP e XP, avaliar sua implicação na evolução e comparar com o GG. MÉTODOS: Análise retrospectiva dos aspectos radiológicos, morfológicos e evolutivos (tempo livre de doença, recidiva e óbito) de 30 casos (14 AP, oito XP, oito GG). Cortes corados com hematoxilina e eosina (HE) foram revistos para a identificação da presença de CG neoplásicas e CGE. Estes foram imunomarcados para sinaptofisina (SIN) e neurofilamento (NF) e, em casos selecionados, para glial fibrillary acidic protein (GFAP). RESULTADOS: Seis AP foram reclassificados para GG pela presença de CG (HE ou imunomarcação). Alguns CGE, semelhantes às CG degeneradas, também imunomarcaram para SIN/NF, a maioria sendo negativa para GFAP. O tempo médio livre de doença foi de 62,16 meses. Quatro tumores recidivaram; um deles evoluiu para óbito. Todos os XP possuíam CG, sugerindo que são variantes de GG, dos quais quatro recidivaram (um óbito). O tempo médio livre de doença foi de 69 meses. O aspecto radiológico foi predominantemente cístico. CONCLUSÃO: Sugerimos que AP e XP com CG ou CGE imunopositivos para marcadores neuronais possam ser variantes de GG e alguns CGE representem CG degeneradas; entretanto, a presença de CG ganglionares parece não modificar o comportamento biológico dessas neoplasias.
Assuntos
Astrocitoma/classificação , Ganglioglioma/classificaçãoRESUMO
BACKGROUND: Gangliogliomas (GGs) are rare brain tumors, and their malignant changes are still less frequent. In these cases, almost always the malignant component is the glial one. However, there are few cases in which the neuronal component exhibits malignant transformation. CASE DESCRIPTION: We described a case of a 14-year-old male patient who started with seizures and 5 years later, its frequency was almost daily despite being treated with several antiepileptic drugs. Magnetic resonance imaging showed a nonenhancing lesion located at the right inferior temporal gyri. He underwent surgery, and the tumor was completely removed. Histological diagnosis was GG. He had no seizures anymore, but 3 years later, the tumor recurred as a giant heterogeneously enhancing space-occupying mass within the right temporal lobe. A second surgical resection was performed. Histological diagnosis was a primitive neuroectodermal tumor (PNET). One month and a half later, the tumor has recurred again. He and his family decided not to undergo another operation, so he was referred to the radiotherapy department. CONCLUSION: As in this patient, GGs may recur as a primitive neuroectodermal tumor, likely because both types of neoplasm form part of the same heterogeneous group of brain tumors which contains neuronal components, but on the other side of the malignancy spectrum.