Anaplastic cortical ependymoma in 10 months girl: A case report.

INTRODUCTION AND IMPORTANCE: Ependymomas arise from the ependymal cells that line the brain ventricles, and central canal. In children most of them are benign. However, cortical anaplastic ependymomas are very rare in pediatrics. CASE PRESENTATION: A 10 months girl presented with vomits for one week, increased head circumference, psychomotor development delay, left facial nerve (VII) palsy, and left hemiparesis 3/5. Magnetic resonance imaging (MRI) of the brain demonstrated a large parenchymal lesion filling most of the right hemisphere. She underwent a total excision of the lesion. The tumor had no connection to the ventricular ependymal lining. No adjuvant chemotherapy or radiotherapy was considered. The final diagnosis is Anaplastic Ependymoma (WHO Grade III). CLINICAL DISCUSSION: Cortical anaplastic ependymomas are extremely rare. In pediatrics they affect frontal, frontoparietal, and parietal lobes, Temporal and occipital lobes are uncommon. Migration disorders from the germinal matrix and the differentiation of primitive neuroectodermal tumors along the ependymal lineage are considered two hypotheses that explain the pathogenesis of ectopic ependymomas. CONCLUSION: Ependymomas should be considered a differential diagnosis in children, as the successful total removal of ependymomas in that age saves the patient from the need of adjuvant therapy such as radio-therapy or chemotherapy.

Transcranial motor-evoked potentials disappear with pons transection.

Motor-evoked potential (MEP) monitoring by transcranial electrical stimulation (TES) is important for intraoperative motor function assessment in neurosurgery; however, false-negative results sometimes occur, and these findings should be interpreted with caution. Herein, we report an interesting MEP change resulting from a pons transection. The patient was a boy aged 5 years and 2 months. He underwent multiple craniotomies for cerebellar anaplastic ependymoma and was already paralyzed in the right upper and lower limbs. Therefore, we decided to remove the recurrent lesion from the left anterior pons. MEPs were recorded on both the right and left sides after the start of surgery but disappeared 1 h 30 min after the start of surgery in the TES on the operative side, even when the stimulation intensity was increased. The contralateral TES consistently recorded stable MEPs throughout the surgery. The tumor was completely resected on imaging. Immediately postoperatively, the patient experienced flaccid paralysis on the right side of the body, which recovered to preoperative levels over time. A transcranial MEP cannot be derived if the corticospinal tract is transected at the pons. Transcranial MEP findings may accurately reflect the corticospinal tract function if the injury is caudal to the pons.

Adult supratentorial extraventricular anaplastic ependymoma with cerebrospinal fluid dissemination metastases: a case report.

Background: Ependymomas mostly locate in the infratentorial region and often occur in children. Anaplastic ependymomas account for 45-47% of supratentorial and 15-17% of infratentorial ependymomas, also known as malignant ependymomas. Adult supratentorial extraventricular anaplastic ependymoma (SEAE) is rare in clinical practice, and only a few cases have been reported so far, and there is no clinical study with large sample size. We report a case of adult supratentorial extraventricular anaplastic ependymoma in the occipital lobe with cerebrospinal fluid dissemination metastases. Case description: A 58-year-old female patient presented with unexplained pain in multiple parts of the body for the past half a year, mainly manifested as pain in the head, abdomen and chest. On August, 2022, Head MRI of the patient showed abnormal signal shadow in the left occipital lobe, which was considered a malignant lesion. The patient underwent tumor resection under general anesthesia on September 3, 2022. Postoperative pathological examination showed anaplastic ependymoma. The postoperative follow-up head MRI showed multiple cerebrospinal fluid dissemination metastases in the brain. Conclusion: Adult SEAE is a rare tumor with high malignancy and have a tendency to disseminate into the CSF, resulting in drop metastases. Immunohistochemistry is very important for the diagnosis of SEAE. It is recommended to administer adjuvant chemotherapy or radiation therapy appropriately after surgery, based on the tumor being completely resected as much as possible.

Single-cell RNA sequencing of anaplastic ependymoma and H3K27M-mutant diffuse midline glioma.

BACKGROUND: Anaplastic ependymoma and H3K27M-mutant diffuse midline glioma are two common subtypes of brain tumors with poor long-term prognosis. The present study analyzed and compared the differences in cell types between two tumors by single-cell RNA sequencing (scRNA-seq) technology. METHODS: ScRNA-seq was performed to profile cells from cancer tissue from anaplastic ependymoma patient and H3K27M-mutant diffuse midline glioma patient. Cell clustering, marker gene identification, cell type annotation, copy number variation analysis and function analysis of differentially expressed genes were then performed. RESULTS: A total of 11,219 cells were obtained from anaplastic ependymoma and H3K27M mutant diffuse midline glioma, and these cells categorized into 12 distinct clusters. Each cell cluster could be characterized with specific cell markers to indicate cellular heterogeneity. Five cell types were annotated in each sample, including astrocyte, oligodendrocytes, microglial cell, neural progenitor cell and immune cell. The cluster types and proportion of cell types were not consistent between the two brain tumors. Functional analyses suggest that these cell clusters are involved in tumor-associated pathways, with slight differences in the cells of origin between the two tumors. In addition, cell communication analysis showed that the NRG3-ERBB4 pair is a key Ligand-receptor pair for anaplastic ependymoma, while in H3K27M-mutant diffuse midline glioma it is the PTN-PTPRZ1 pair that establishes contact with other cells. CONCLUSION: There was intratumor heterogeneity in anaplastic ependymoma and H3K27M mutant diffuse midline glioma, and that the subtype differences may be due to differences in the origin of the cells.

Stereotactic radiosurgery for the treatment of a distant recurrence of ependymoma on the optic nerve: illustrative case.

BACKGROUND: Ependymomas rarely disseminate to other central nervous system areas distant from the original site. Stereotactic radiosurgery (SRS) provides high control rates for recurring ependymomas. The treatment of optic nerve tumors carries high morbidity, but SRS is an acceptable option to manage these cases to reduce risks. OBSERVATIONS: The authors report the case of a 31-year-old male with a cervical spinal ependymoma who had a disseminated pattern of recurrence including the optic nerve after initial resection of the cervical lesion. The optic nerve tumor was treated with SRS, and the authors discuss the technical aspects of the treatment and its outcomes. At the last follow-up, the optic nerve tumor was controlled with SRS, and visual function was preserved. LESSONS: High-grade ependymomas such as the one in the presented case can have unpredictable patterns of recurrence. SRS provides excellent control of the distant recurring ependymoma with a low complication profile given the location of the tumor in this case.

Dorsal cervical approach for recurrent intradural anaplastic ependymoma.

The video demonstrates an operative approach to a recurrent cervical anaplastic ependymoma. MYCN-amplified anaplastic ependymomas are locally aggressive, recurrent, and have a high risk of iatrogenic injury. In this case, the patient presented with local, aggressive tumor expansion, arachnoid adhesions, and pial invasion ventral to the spinal cord. Subcapsular decompression minimized cord retraction from a dorsal approach. Removal of the tumor capsule was guided by bipolar stimulation paired with neuromonitoring. Local gross-total resection was achieved, and the patient had a postoperative improvement in his neurological deficits and myelopathy.

Dry Field Technique and Ultrasonic Aspirator in Endoscopic Removal of a Hemorrhagic Intraventricular Tumor in a 2-Year-Old Girl.

Neuroendoscopic procedures inside the ventricular system always bear the risk for an unexpected intraoperative hemorrhage. Most hemorrhages can be managed by constant irrigation with low- and high-pressure washes. In the other rare cases, the dry field technique may be necessary.1-5 It requires the aspiration of the entire intraventricular cerebrospinal fluid with the aim of establishing a proper environment for hemostasis. Video 1 illustrates a step-by-step removal of an intraventricular tumor in a 2-year-old girl through an endoscopic technique where the dry field technique was undertaken because of its hemorrhagic nature. Postoperative magnetic resonance imaging showed complete removal of the left frontal tumor infiltration at the level of the left frontal ependyma. The small residual tumor on the left frontal horn was removed using microsurgical technique with another procedure and after achieving complete removal of all visible tumor, the patient was referred to radiotherapy.

Efficacy of the pedicle trapezius muscle flap for the multisurgical removal of pediatric posterior fossa anaplastic ependymoma.

OBJECTIVE: Exceedingly refractory, pediatric anaplastic ependymoma in many cases requires multisurgical removal. The high risk of poor wound healing and CSF leakage especially at the posterior fossa make this tumor difficult to treat. CASE: A 9-year-old girl has had 4th ventricular anaplastic ependymoma since the age of 3. She experienced tumor removal 8 times including 4 posterior fossa craniotomies because tumors were disseminated not only to the posterior fossa but also to the cerebral hemispheres. She also underwent a dermal graft using a free flap. She experienced CSF leaks and meningitis frequently because the wound healing was poor. We performed a dermal flap closure using a pedicle trapezius muscle flap with a plastic surgeon when we performed the 5th tumor removal. RESULT: We achieved complete wound closure in spite of broad deficiencies in subcutaneous and epidermal tissues. After that, recurrences of posterior fossa tumors presented within a short term, and tumor removal via an incision of a pedicle trapezius muscle flap was performed without recurrence of CSF leaks and meningitis. DISCUSSION AND CONCLUSION: For the first time, we are able to report on the efficacy of using the pedicle trapezius muscle flap for multisurgical removal of pediatric posterior fossa anaplastic ependymoma. The muscle flap was found to be effective because of the multiple surgeries expected, and the pedicle trapezius muscle flap was found to be resilient to multiple surgical procedures. Although advantageous, the dorsal scapular artery which is required for flap creation is actually difficult to harvest. Compared to a flee flap, the pedicle trapezius muscle flap maintains vascular supply. Furthermore, this technique has the possibility of being applied to defective dura mater closure that cannot be watertight due to multiple surgeries. However, it is very important to inform the patient's family not only about the improved efficacy of surgery, but also to raise awareness on consequential cosmetic issues.

Primary spinal anaplastic ependymoma: A single-institute retrospective cohort and systematic review.

Objective: Primary spinal anaplastic ependymoma (PSAE) is an extremely rare disease. We aim to report the largest PSAE cohort, evaluate the treatments, and investigate the prognostic factors for progression-free survival (PFS). Methods: Clinical data collected from the authors' institute and literature articles were pooled and described. Survival analysis and multivariable Cox regression analysis were performed to evaluate therapies and investigate prognostic factors for PFS. Results: Our cohort included 22 females and 16 males, with a median age of 33 years. PSAE developed mostly on cervical and cervicothoracic levels. The median length measured 3 segments. Half of PSAE were intramedullary. Pain was the most common symptom. The median duration of symptoms was 6 months. Neurological statuses were improved in 76% following treatments, whereas clinical tumor progression occurred in 41.7%. The estimated median progression-free survival was 132 months, and the estimated median survival was 192 months. The median Ki-67 index was 15%. Patients aged less than or equal to 25 experienced worse neurological statuses and more repeated progression. Age less than or equal to 25 (HR 10.312, 95%CI 1.535-69.260, p=0.016), gross total resection (HR 0.116, 95%CI 0.020-0.688, p=0.018), and radiotherapy (HR 0.084, 95%CI 0.009-0.804, p=0.032) are three prognostic factors for tumor progression. Conclusion: Tumor progression remains a big concern in the clinical course of PSAE. Being aged above 25, undergoing GTR, and accepting adjuvant radiotherapy put patients at lower risk for tumor progression. Younger patients might have worse neurological statuses compared with those aged over 25.

Spontaneous intracerebral haemorrhage secondary to 5-ALA-induced thrombocytopaenia in a paediatric patient: case report and literature review.

INTRODUCTION: The primary objective of neurosurgical management of malignant gliomas is maximal safe resection of the tumour. One of the main obstacles in achieving this is the ability to accurately discriminate between tumour edges and the surrounding healthy brain tissue. The use of fluorescence-guided surgery utilising 5-aminolevulinic acid (5-ALA), first introduced more than 20 years ago, has become an invaluable adjunct in high-grade glioma surgery in adults. However, as 5-ALA is not licensed for use in paediatric patients, the safety profile for such use remains undetermined. CASE REPORT: We describe the case of a 4-year-old boy who underwent 5-ALA-guided resection of a fourth ventricle anaplastic ependymoma. Although complete resection was achieved and the patient awoke from surgery well with no neurological deficits, the patient developed acute transaminitis, anaemia, thrombocytopaenia and coagulopathy postoperatively. The patient had a sudden neurological deterioration on postoperative day 2; imaging revealed that he had suffered a spontaneous right frontal intracerebral haemorrhage. The patient returned to theatre for surgical decompression and evacuation of the haematoma, and ultimately went on to make a full recovery. CONCLUSION: The use of 5-ALA in paediatric patients can be helpful in maximising surgical resection, but the associated safety profile remains undefined. Further research is urgently warranted in order to characterise the efficacy and risk of the use of 5-ALA in the paediatric population.

A cystic anaplastic ependymoma mimicking a pilocytic astrocytoma.

Ependymomas are grouped in 4 subtypes based on their cellular characteristics including subependymoma, myxopapillary ependymoma, classic ependymoma, and anaplastic ependymoma. Among those, anaplastic ependymoma are the most malignant and fast-growing tumors as grade III according to the fifth edition of the WHO classification of tumors of the central nervous system. Commonly, ependymoma is predominantly solid. The cystic ependymoma is very rare. In this paper, we aimed to introduce a 2-year-old male with cystic anaplastic ependymoma inside fourth ventricle which was misdiagnosed as a pilocytic astrocytoma. We recommend that the possibility of anaplastic ependymoma should be taken into account in every case of infratentorial cyst inside the fourth ventricle without mural nodule and with rim enhancement.

Posterior Reversible Encephalopathy Syndrome Developing after Aggressive Posterior Fossa Tumor Surgery.

Posterior reversible encephalopathy syndrome (PRES) is a rare neurologic disorder, having such common radiological findings as vasogenic edema and white matter changes in watershed areas. The clinic and radiological outcome may not be reversible in 10 to 20% of patients, like in the case of our patient. Here, we discuss the pathogenetic factors that are essential in developing PRES after posterior fossa surgery. A 4-year-old female was admitted to our clinic with a recurrent/residual mass in the posterior fossa. She previously underwent posterior fossa surgery three times (for what was diagnosed as anaplastic astrocytoma through pathohistology) in another center. She was operated thrice in 5 days, and the tumor radically removed. Two days later, after the last surgery, while waking up, our patient developed seizures and altered consciousness. Her neurological condition was severe. Magnetic resonance imaging findings were compatible with those of PRES. Our patient had multiple risk factors for PRES that were as follows: multiple posterior fossa surgeries, anamnesis of chemotherapy and radiotherapy, high-dose steroid use, intracranial pressure changes, and hypertensive attacks due to surgical manipulation. In preventing the development of PRES, we should beware of sudden changes in blood pressure during surgery and meticulously manipulate the brain stem to avoid any disturbance of the central nervous system homeostasis. PRES may transform into real encephalopathy. If the patient has some of these risk factors, PRES would probably develop after surgery.

Supratentorial extra-axial RELA fusion-positive ependymoma misdiagnosed as meningioma by intraoperative histological and cytological examinations: a case report.

BACKGROUND: Dura-attached supratentorial extra-axial ependymoma is a very rare type of tumor, with only nine reported cases. Preoperative diagnosis of dura-attached supratentorial extra-axial ependymoma is difficult and often radiologically misdiagnosed as a meningioma. We report a case of dura-attached supratentorial extra-axial ependymoma that was misdiagnosed using intraoperative histological and cytological examinations. CASE PRESENTATION: A 26-year-old Japanese man with headache and nausea was referred to our medical facility. Magnetic resonance imaging revealed a cystic mass of 70 × 53 × 57 mm in the left temporoparietal lobe. A peritumoral band with hyperintensity on T2-weighted imaging was observed at the periphery of the lesion, suggesting an extra-axial lesion with no apparent connection to the ventricle. A dural tail sign was also noted on the gadolinium-enhanced T1-weighted image. Preoperative clinical diagnosis was meningioma. Proliferated tumor cells in sheets with intermingled branching vessels were observed in the frozen tissue. Perivascular rosettes were inconspicuous, and the tumor cells had rhabdoid cytoplasm. The tumor was intraoperatively diagnosed as a meningioma, suspected to be a rhabdoid meningioma. Perivascular rosettes were evident in the formalin-fixed paraffin-embedded tissues, suggesting ependymoma. The tumor cells had eosinophilic cytoplasm without a rhabdoid appearance. Anaplastic features, such as high tumor cellularity, increased mitotic activity, microvascular proliferation, and necrosis, were observed. Ependymal differentiation was confirmed on the basis of ultrastructural analysis. Molecular analysis detected C11orf95-RELA fusion gene. The final diagnosis was RELA fusion-positive ependymoma, World Health Organization grade III. CONCLUSION: Owing to its unusual location, dura-attached supratentorial extra-axial ependymomas are frequently misdiagnosed as meningiomas. Neuropathologists should take great precaution in intraoperatively diagnosing this rare subtype of ependymoma to avoid misdiagnosis of the lesion as other common dura-attached tumors.

Metronomic Cyclophosphamide With Cisplatin and Bevacizumab for Refractory Anaplastic Ependymoma: A Retrospective Study.

BACKGROUND/AIM: Anaplastic ependymoma is a rare cancer of the central nervous system. The treatment includes optimal resection with focal radiotherapy. Some case reports or retrospective studies have suggested efficacy of regimens containing platinum or bevacizumab. We describe the feasibility and clinical benefit of the cisplatin-bevacizumab-cyclophosphamide treatment of anaplastic ependymoma. PATIENTS AND METHODS: Patients were identified through the Adolescent and Young Adults (AYAS) brain tumor national Web conference. We estimated the median progression-free (PFS) and overall survival (OS). RESULTS: There were eight patients with anaplastic ependymoma, with a median age of 36 years. The median OS was 19.9 months and median PFS was 12.3 months. Three patients obtained partial response, four stable disease, and one patient had disease progression during induction. Six patients received maintenance with a median duration of 224 days. CONCLUSION: This study confirms the tolerance of bevacizumab-cyclophosphamide-cisplatin treatment of anaplastic ependymoma. The clinical benefit seems even superior to that described in the literature.

Supratentorial ependymoma, zinc finger translocation-associated fusion positive, with extensive synaptophysin immunoreactivity arising from malignant transformation of clear cell ependymoma: A case report.

Background: We describe a case of a supratentorial ependymoma, zinc finger translocation-associated (ZFTA) fusion positive with extensive synaptophysin immunoreactivity arising from malignant transformation of an ependymoma with clear cell features in a patient with long-term follow-up. Case Description: A 55-year-old woman presented with seizures and ataxia 15 years after an initial resection of a clear cell ependymoma, Grade 2. Imaging demonstrated an enhancing right paracentral mass and the patient underwent biopsy and resection. Microscopic analysis showed regions of the tumor with morphological and immunohistochemical features typical of ependymoma, including perivascular pseudorosettes and focal dot- like epithelial membrane antigen positivity, as well as high-grade features. In addition, the neoplasm contained large nodular regions of clear cells exhibiting extensive synaptophysin immunoreactivity, suggestive of neural differentiation, and only focally positive immunoreactivity for glial markers. Electron microscopy showed poorly formed and ill-defined junctional complexes, but no cilia, microvilli, or dense granules were seen. Molecular profiling revealed the presence of a fusion between ZFTA (previously known as C11orf95) and RELA fusion. Conclusion: We report a case of extensive synaptophysin immunoreactivity in a ZFTA-RELA fusion-positive ependymoma that had undergone malignant transformation from a clear cell ependymoma and has long-term follow-up, contributing to the assessment of prognostic significance of synaptophysin immunoreactivity in supratentorial ependymoma, ZFTA fusion positive.

Adult Posterior Fossa Anaplastic Ependymoma, Case Series and Literature Review.

OBJECTIVE: Ependymomas are rare central nervous system tumors. The current treatment strategy is gross total tumor removal. Whether adjuvant therapy will be beneficial is controversial. We retrospectively analyzed 3 cases of World Health Organization (WHO) grade III posterior fossa anaplastic ependymomas treated with different treatment modalities. We aimed to identify possible treatment options for infratentorial WHO grade III anaplastic ependymoma in adults. METHODS: We performed a retrospective analysis of 3 patients diagnosed with infratentorial anaplastic ependymomas in our institution from 2016 to 2020. The demographic data were documented. This case series of 3 patients does not meet the Department of Health and Human Services definition of research and does not need Institutional Review Board approval. All patients' informed consents have been obtained. RESULTS: One patient underwent subtotal tumor resection combined with adjuvant radiotherapy and Gamma Knife radiosurgery while the other 2 patients underwent gross total tumor removal combined with Gamma Knife radiosurgery or adjuvant radiotherapy. Tumors recurred in the first patient 20 months later, while the other 2 patents did not develop recurrence. The modified Rankin scale scores of these patients were 1, 0, and 0. All patients are followed up with regular magnetic resonance imaging at our facility. CONCLUSIONS: The strategy for treating WHO grade III anaplastic ependymomas is controversial, but gross total tumor resection remains the key element. Adjuvant stereotactic radiosurgery after tumor removal might be considered if radiotherapy is not an option. The role of chemotherapy is unclear, and the use of chemotherapy should be tailored to individual patients.

Pineal Anaplastic Ependymoma - A Rare Entity.

Anaplastic ependymoma in the pineal region is rare. Here, we present a rare case of anaplastic ependymoma of the pineal region on a 42-year-old woman who came to our hospital with headache associated with blurring of vision since one month. MRI brain showed a contrast enhancing mass lesion measuring 30 × 30 × 35 mm in the pineal region with obstructive hydrocephalus. Initially, the ventriculoperitoneal (VP) shunt was done, followed by total tumor excision by the infratentorial supracerebellar approach. Histopathological and immunohistochemistry examinations of the tumor showed the features of anaplastic ependymoma (WHO Grade III). Patient made uneventful recovery and underwent radiotherapy. Only 12 cases of pineal ependymoma have been reported so far, of which only three have been anaplastic ependymoma.

Supratentorial extraventricular ependymoma presenting calvarial erosion: A report of 3 cases.

Calvarial erosion is an infrequent manifestation associated with oligodendrogliomas, astrocytomas, dysembryoplastic neuroepithelial tumors, astroblastomas, glioblastomas, and meningiomas. Anaplastic ependymoma (AE), a rare malignant form of ependymoma, commonly results in poor prognosis. During the last 12 years, six patients were diagnosed with supratentorial ependymomas. All of them were AEs with extraventricular location identified in the right parietal, left parietal, and left frontal lobes, respectively. Three of them, 7-, 15, and 17-year-old male patients, presented focal calvarial erosion with smooth contour. Calvarial erosion may be a diagnostic hallmark of supratentorial AEs.

Anaplastic myxopapillary ependymoma of the sacrum: A case report.

BACKGROUND: Myxopapillary ependymoma (MPE) with anaplastic features is extremely rare. There are very few such case reports in the medical literature. CASE DESCRIPTION: A 23-year-old female presented with lower back pain, and both urinary and fecal dysfunction. The patient underwent gross total surgical excision of the MR documented expansile intrasacral tumor. The histology was compatible with a MPE containing anaplastic features. CONCLUSION: The medical literature contains a few comparable cases of subcutaneous sacrococcygeal MPE with anaplastic components. Here, however, we have a young female with an anaplastic intrasacral MPE treated with gross total surgical excision.