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Journal of Neurosurgery. Case Lessons Jan 2024Ependymoma is the third most common pediatric brain tumor that can present with headaches, cranial nerve deficits, nausea, vomiting, and ataxia. Current treatment is...
Overcoming the challenge of a thin skull in a 2-year-old patient undergoing laser interstitial thermal therapy using an individualized stereotactic platform: illustrative case.
BACKGROUND
Ependymoma is the third most common pediatric brain tumor that can present with headaches, cranial nerve deficits, nausea, vomiting, and ataxia. Current treatment is maximal safe resection followed by radiation therapy. More recently, laser interstitial thermal therapy (LITT) has become an alternative to traditional resection. In this report, the authors describe the utilization of a single-use, patient-specific stereotactic platform for the treatment of supratentorial ependymoma with LITT.
OBSERVATIONS
A 2-year-old female had a complex history of supratentorial ependymoma after multiple craniotomies for repeated tumor progression and ventriculoperitoneal shunt placement. Imaging demonstrated an enlarging, complex, enhancing mass in the right occipital region. LITT was decided on for treatment. Given the thinness of the patient's skull, which precluded traditional means of stereotaxy, the authors elected to use a personalized stereotactic platform. Immediate postoperative imaging captured complete laser ablation of the tumor, with long-term imaging demonstrating a decreased tumor size.
LESSONS
Individualized stereotactic platforms are increasingly used in adult populations, but pediatric use continues to be infrequent. In this report, the authors present the youngest reported case using a personalized stereotactic platform and show the effectiveness of this system for performing LITT in the youngest of populations with very thin skulls.
PubMed: 38163356
DOI: 10.3171/CASE23513 -
International Journal of Surgery Case... Jan 2024Cavernous malformation of the cauda equina is a rare neurosurgical condition. We sought to highlight one of these cases and its resultant diagnosis and management....
INTRODUCTION
Cavernous malformation of the cauda equina is a rare neurosurgical condition. We sought to highlight one of these cases and its resultant diagnosis and management. Additionally, to recommend the need for raised clinical suspicion of these rare masses when an extramedullary lesion is noted on imaging.
PRESENTATION OF CASE
A 42-year-old female presented to our institution with a 9-month history of lower back pain. Her examination findings revealed a loss of right ankle jerk reflex. Magnetic resonance imaging (MRI) of her lumbosacral spine demonstrated an intradural, extramedullary tumor involving the cauda equina, at the L4/L5 level. The main differential diagnosis at this time was an ependymoma. An L4/5 laminectomy and resection of the cauda equina mass was scheduled. Intra-operatively, a mulberry - like mass was noted involving a single nerve root. A gross total resection was performed, with resolution of most of her symptoms. Histopathological diagnosis of a cavernous malformation was ascertained.
DISCUSSION
The accurate diagnosis of a cavernous malformation of the cauda equina was only suspected intra-operatively, following gross inspection. Cauda equina masses usually include myxopapillary ependymomas and schwannomas, making this vascular extramedullary lesion low on the possible differentials list. Very few cases have been published in modern literature.
CONCLUSION
Cavernous malformations of the cauda equina are an extremely uncommon, benign vascular malformation. These malformations have key characteristics on MRI that can aid its differentiation from other intradural lesions. However, because it is so rare, it does not usually make the list of differentials when considering likely extramedullary lesions.
PubMed: 38154230
DOI: 10.1016/j.ijscr.2023.109200 -
Brain Sciences Dec 2023Low-Grade Gliomas (LGGs) represent a diverse group of brain tumors originating from glial cells, characterized by their unique histopathological and molecular features.... (Review)
Review
Low-Grade Gliomas (LGGs) represent a diverse group of brain tumors originating from glial cells, characterized by their unique histopathological and molecular features. This article offers a comprehensive exploration of LGGs, shedding light on their subtypes, histological and molecular aspects. By delving into the World Health Organization's grading system, 5th edition, various specificities were added due to an in-depth understanding of emerging laboratory techniques, especially genomic analysis. Moreover, treatment modalities are extensively discussed. The degree of surgical resection should always be considered according to postoperative quality of life and cognitive status. Adjuvant therapies focused on chemotherapy and radiotherapy depend on tumor grading and invasiveness. In the current literature, emerging targeted molecular therapies are well discussed due to their succinctly therapeutic effect; in our article, those therapies are summarized based on posttreatment results and possible adverse effects. This review serves as a valuable resource for clinicians, researchers, and medical professionals aiming to deepen their knowledge on LGGs and enhance patient care.
PubMed: 38137148
DOI: 10.3390/brainsci13121700 -
Cureus Nov 2023Ependymomas are neuroepithelial tumors that develop from ependymal cells found in the brain parenchyma and can spread to any part of the spinal cord. Three to six... (Review)
Review
Ependymomas are neuroepithelial tumors that develop from ependymal cells found in the brain parenchyma and can spread to any part of the spinal cord. Three to six percent of all malignancies affecting the central nervous system (CNS) are ependymomas. Even the most talented surgeons are challenged by spinal cord ependymomas; as a result, research into this clinical phenomenon should continue. Since 1979, the World Health Organization (WHO) has published a classification and grading system for CNS malignancies to ensure consistent diagnostic standards worldwide. The WHO prepared an update on these tumors, paying particular attention to molecular techniques to categorize the therapeutic management of each patient with greater accuracy and clarity. We thoroughly reviewed the literature on the epidemiology, etiology, diagnosis, and treatment of spinal ependymomas since there has not been a recent review of these tumors. This included modifications to the 2021 WHO Classification of Tumors of the Central Nervous System.
PubMed: 38125233
DOI: 10.7759/cureus.49086 -
Journal of the Korean Society of... Nov 2023In adults, spinal ependymomas are usually found in intramedullary locations. However, intradural extramedullary spinal ependymomas are rare. Additionally, spinal...
In adults, spinal ependymomas are usually found in intramedullary locations. However, intradural extramedullary spinal ependymomas are rare. Additionally, spinal ependymomas usually show iso to hypointensity on T1-weighted images without hemorrhage. Herein, we present a rare case of a 43-year-old female with a pathologically confirmed intradural extramedullary ependymoma that showed hyperintensity on T1-weighted imaging accompanied by hemorrhage.
PubMed: 38107680
DOI: 10.3348/jksr.2022.0173 -
Frontiers in Immunology 2023The significant progress of immune therapy in non-central nervous system tumors has sparked interest in employing the same strategy for adult brain tumors. However, the...
BACKGROUND
The significant progress of immune therapy in non-central nervous system tumors has sparked interest in employing the same strategy for adult brain tumors. However, the advancement of immunotherapy in pediatric central nervous system (CNS) tumors is not yet on par. Currently, there is a lack of comprehensive comparative studies investigating the immune ecosystem in pediatric and adult CNS tumors at a high-resolution single-cell level.
METHODS
In this study, we comprehensively analyzed over 0.3 million cells from 171 samples, encompassing adult gliomas (IDH wild type and IDH mutation) as well as four major types of pediatric brain tumors (medulloblastoma (MB), ependymoma (EPN), H3K27M-mutation (DIPG), and pediatric IDH-mutation glioma (P-IDH-M)). Our approach involved integrating publicly available and newly generated single-cell datasets. We compared the immune landscapes in different brain tumors, as well as the detailed functional phenotypes of T-cell and myeloid subpopulations. Through single-cell analysis, we identified gene sets associated with major cell types in the tumor microenvironment (gene features from single-cell data, scFes) and compared them with existing gene sets such as GSEA and xCell. The CBTTC and external GEO cohort was used to analyze and validate the immune-stromal-tumor patterns in pediatric brain tumors which might potentially respond to the immunotherapy.
RESULTS
From the perspective of single-cell analysis, it was observed that major pediatric brain tumors (MB, EPN, P-IDH-M, DIPG) exhibited lower immune contents compared with adult gliomas. Additionally, these pediatric brain tumors displayed diverse immunophenotypes, particularly in regard to myeloid cells. Notably, the presence of HLA-enriched myeloid cells in MB was found to be independently associated with prognosis. Moreover, the scFes, when compared with commonly used gene features, demonstrated superior performance in independent single-cell datasets across various tumor types. Furthermore, our study revealed the existence of heterogeneous immune ecosystems at the bulk-RNA sequencing level among different brain tumor types. In addition, we identified several immune-stromal-tumor patterns that could potentially exhibit significant responses to conventional immune checkpoint inhibitors.
CONCLUSION
The single-cell technique provides a rational path to deeply understand the unique immune ecosystem of pediatric brain tumors. In spite of the traditional attitudes of "cold" tumor towards pediatric brain tumor, the immune-stroma-tumor patterns identified in this study suggest the feasibility of immune checkpoint inhibitors and pave the way for the upcoming tide of immunotherapy in pediatric brain tumors.
Topics: Humans; Child; Adult; Ecosystem; Immune Checkpoint Inhibitors; Brain Neoplasms; Glioma; Medulloblastoma; Central Nervous System Neoplasms; Cerebellar Neoplasms; Sequence Analysis, RNA; RNA; Tumor Microenvironment
PubMed: 38094301
DOI: 10.3389/fimmu.2023.1238684 -
Clinical Case Reports Dec 2023Ependymomas are primary brain tumors that predominantly affect individuals between 0 and 4 years of age. Although ependymomas have a propensity for recurrence and the...
KEY CLINICAL MESSAGE
Ependymomas are primary brain tumors that predominantly affect individuals between 0 and 4 years of age. Although ependymomas have a propensity for recurrence and the potential to spread within the central nervous system through cerebrospinal fluid (resulting in drop metastases), reports of extra-neural metastatic localizations are exceedingly rare in the existing literature. This case report presents a unique and rare instance of recurrent intracranial anaplastic ependymoma with a late-onset giant scalp metastasis.
ABSTRACT
A 55-year-old male patient with a medical history of partial resection of an atypical supratentorial left temporal ependymoma presented with a recurrent anaplastic ependymoma, which had been managed with surgery and radiotherapy. After a 4-year follow-up, the patient developed a subcutaneous mass in the left parietal region of the scalp. A multidisciplinary team of neurosurgeons and plastic surgeons performed a surgical procedure, which included en bloc removal of the scalp lesion, resection of 1 cm of unaffected skin, and craniotomy to address an osteolytic area in the parietal skull bone. Skin autografts were used for reconstruction. Histological examination confirmed metastasis of anaplastic ependymoma in the scalp. After a delay in starting chemotherapy due to concerns related to the COVID-19 pandemic, the patient eventually initiated chemotherapy, leading to disease stability at a short-term follow-up. Scalp metastases from ependymoma are rarely reported in the literature. Management of such cases necessitates aggressive surgical resection, followed by adjuvant chemotherapy and radiotherapy. A multidisciplinary approach is recommended to ensure effective and targeted therapy, with a focus on preserving aesthetics, particularly in pediatric cases.
PubMed: 38094135
DOI: 10.1002/ccr3.8324 -
Neuroradiology May 2024This article is the second in a two-part series aimed at exploring the spectrum of supratentorial intraventricular masses in children. In particular, this part delves... (Review)
Review
PURPOSE
This article is the second in a two-part series aimed at exploring the spectrum of supratentorial intraventricular masses in children. In particular, this part delves into masses originating from cells of the ventricular lining, those within the septum pellucidum, and brain parenchyma cells extending into the ventricles. The aim of this series is to offer a comprehensive understanding of these supratentorial intraventricular masses, encompassing their primary clinical findings and histological definitions.
METHODS
We conducted a review and analysis of relevant epidemiological data, the current genetics/molecular classifications as per the fifth edition of the World Health Organization (WHO) Classification of Tumors of the Central Nervous System (WHO CNS5), and imaging findings. Each supratentorial intraventricular mass was individually evaluated, with a detailed discussion on its clinical and histological features.
RESULTS
This article covers a range of supratentorial intraventricular masses observed in children. These include colloid cysts, subependymal giant cell astrocytomas, ependymomas, gangliogliomas, myxoid glioneuronal tumors, central neurocytomas, high-grade gliomas, pilocytic astrocytomas, cavernous malformations, and other embryonal tumors. Each mass type is characterized both clinically and histologically, offering an in-depth review of their individual imaging characteristics.
CONCLUSION
The WHO CNS5 introduces notable changes, emphasizing the vital importance of molecular diagnostics in classifying pediatric central nervous system tumors. These foundational shifts have significant potential to impact management strategies and, as a result, the outcomes of intraventricular masses in children.
Topics: Child; Humans; Glioma; Brain; Ependymoma; Astrocytoma; Tomography, X-Ray Computed; Brain Neoplasms; Supratentorial Neoplasms
PubMed: 38085360
DOI: 10.1007/s00234-023-03253-3 -
Frontiers in Oncology 2023Ependymomas are rare glial tumors with clinical and biological heterogeneity, categorized into supratentorial ependymoma, posterior fossa ependymoma, and spinal cord... (Review)
Review
Ependymomas are rare glial tumors with clinical and biological heterogeneity, categorized into supratentorial ependymoma, posterior fossa ependymoma, and spinal cord ependymoma, according to anatomical localization. Spinal ependymoma comprises four different types: spinal ependymoma, spinal ependymoma -amplified, myxopapillary ependymoma, and subependymoma. The clinical onset largely depends on the spinal location of the tumor. Both non-specific and specific sensory and/or motor symptoms can be present. Owing to diverse features and the low incidence of spinal ependymomas, most of the current clinical management is derived from small retrospective studies, particularly in adults. Treatment involves primarily surgical resection, aiming at maximal safe resection. The use of radiotherapy remains controversial and the optimal dose has not been established; it is usually considered after subtotal resection for WHO grade 2 ependymoma and for WHO grade 3 ependymoma regardless of the extent of resection. There are limited systemic treatments available, with limited durable results and modest improvement in progression-free survival. Thus, chemotherapy is usually reserved for recurrent cases where resection and/or radiation is not feasible. Recently, a combination of temozolomide and lapatinib has shown modest results with a median progression-free survival (PFS) of 7.8 months in recurrent spinal ependymomas. Other studies have explored the use of temozolomide, platinum compounds, etoposide, and bevacizumab, but standard treatment options have not yet been defined. New treatment options with targeted treatments and immunotherapy are being investigated. Neurological and supportive care are crucial, even in the early stages. Post-surgical rehabilitation can improve the consequences of surgery and maintain a good quality of life, especially in young patients with long life expectancy. Here, we focus on the diagnosis and treatment recommendations for adults with spinal ependymoma, and discuss recent molecular advances and new treatment perspectives.
PubMed: 38074692
DOI: 10.3389/fonc.2023.1301179 -
Cureus Nov 2023Cauda equina neuroendocrine tumors (CENET) are rare neoplastic processes that develop in the cauda equina or filum terminale region of the spinal cord, which in previous...
Cauda equina neuroendocrine tumors (CENET) are rare neoplastic processes that develop in the cauda equina or filum terminale region of the spinal cord, which in previous incarnations of the World Health Organization (WHO) classification of the central nervous system (CNS) tumors were designated as paragangliomas. The change of terminology was carried out due to the rarity of the condition, its specific place of origin, the non-specific clinical and imaging characteristics with which the tumors present, and differences in biological properties (secretion and progression) as well as some minor differences in immunohistochemical protein expression patterns. Herein, we present a case of a male patient in his sixties who presented to us for a histopathological consultation of a previously excised tumor, which was grossly well-demarcated and connected to a nerve root in the cauda equina region. The tumor presented with histomorphological features of a sharply demarcated, non-infiltrative tumor growing in a nested to pseudopapillary pattern with a highly vascularized, intersecting stroma. Tumor cells were mildly atypical ovoid ones, with eosinophilic cytoplasm, central hyperchromatic nuclei, some with nucleoli, and salt and pepper chromatin. Intersecting stroma was rich in reticulin fibers, and the cell did not express epithelial membrane antigen, excluding the diagnosis of ependymoma as well as glial markers, excluding glial origin. Pan-cytokeratin was focally positive, neuroendocrine markers were diffusely positive, and the proliferative index was low. As such, the diagnosis of CENET, WHO CNS grade 1 was established, and the patient was referred back to the institution at which the surgery was performed for follow-up and further management.
PubMed: 38073951
DOI: 10.7759/cureus.48427