Holocord pilocytic astrocytoma in a young woman with intracranial extension: case report and review of the MRI characteristics.

INTRODUCTION: Pilocytic astrocytoma is a low-grade glioma more frequently seen in patients <20. It is pretty uncommon in the spinal cord. Rarely, astrocytoma may involve the most or total length of the spinal cord; in that case, they are called "holo-cord astrocytoma." In this case report, we are reporting the third holo-cord pilocytic astrocytoma in an adult patient and the first with an extension to the Magendie foramen. CASE PRESENTATION: We presented a 24-year-old woman with complaints of progressively worsening neck and back pain since one year ago. The patient's MRI showed a very large intradural and intramedullary cystic lesion with a solid component within the spinal cord extending from the medulla to the conus medullaris. Partial resection of the solid part of the cervical portion of the tumor was performed. Histopathological evaluation of the resected tumor segments was compatible with grade I pilocytic astrocytoma. After one year of follow-up, neck and back pain has reduced, and neurological functions have improved. CONCLUSION: Spinal cord pilocytic astrocytoma may present as a holo-cord tumor and can rarely extend to the intracranial fossa. Although this tumor does not arise from the central canal, in this case, it was extended through the Magendie foramen. Symptoms could be subtle despite extensive cord involvement. On MRI, this tumor presents as an intramedullary holo-cord cystic lesion intermixed with a solid component with a variable enhancement of the solid component.

Unusual case of spinal cord compression revealed a double primary Hodgkin's lymphoma of the spinal cord.

Hodgkin's lymphoma revealed by a medullary compression with a double primary vertebral localisation is extremely rare. We report the case of a boy in middle childhood who was presented with slow progression of medullary compression syndrome over 9 months, ultimately leading to paraplegia with loss of sphincter tone. The spinal MRI showed two tumour processes at T9 and L1 with epidural extension. An anatomical-pathological examination of the biopsy of the tumour mass, along with immunohistochemical analysis, confirmed the diagnosis of a lymphocyte-rich classic Hodgkin's lymphoma, stage IV according to the Ann Arbor classification. The therapeutic strategy was based on chemotherapy. This study aims to report a unique clinical presentation of Hodgkin's lymphoma in a paediatric patient and underscores the diagnostic challenges encountered in such an uncommon scenario.

Malignant melanotic schwannoma of the cervical spinal cord: a case report.

Spinal cord malignant melanotic schwannoma (MMNST) is a rare central nervous system tumor that originates from the spinal cord or spinal myelin sheath cells and can produce melanin. This type of tumor is usually highly aggressive and malignant, with a poor prognosis. The clinical manifestations of spinal cord MMNST are mainly pain, paresthesia, muscle weakness, muscle atrophy, etc., and symptoms of spinal cord compression, such as intestinal and bladder dysfunction, paraplegia, etc. Early detection of tumor lesions can facilitate tumor removal, improve patients' quality of life, and prolong patients' survival. In this case report, a 27-year-old young woman was diagnosed with MMNST of the cervical spinal cord due to weakness of her limbs in our hospital, and underwent surgical resection. The patient's limbs returned to normal after surgery. It is worth mentioning that the patient visited our hospital 7 months ago for "right upper limb pain for 3 days" and was diagnosed with a cervical spine space-occupying lesion at the same position this time, but the pathology report was "hemosiderosis". The patient's limbs returned to normal after surgery. It is worth mentioning that the patient visited our hospital 7 months ago for "right upper limb pain for 3 days" and was diagnosed with a cervical spine space-occupying lesion at the same position this time, but the pathology report was "hemosiderosis". This case report aims to raise awareness of the problem of spinal cord MMNST and contribute to greater knowledge of this rare tumor. This case report aims to raise awareness of the problem of spinal cord MMNST and contribute to greater knowledge of this rare tumor.

Primary extraskeletal intradural Ewing sarcoma with acute hemorrhage: a case report and review of the literature.

BACKGROUND: Spinal cord tumors present a challenge in diagnosis and treatment due to their varied histopathological characteristics. While Ewing sarcoma is a rare malignant tumor typically originating from skeletal bone, cases of primary intradural extraskeletal Ewing sarcoma are exceptionally rare. The similarity of its presentation to other spinal tumors further complicates its identification and management. CASE PRESENTATION: We report a case of a 58-year-old Palestinian male with intradural extraskeletal lumbar Ewing sarcoma. The patient initially presented with lower back pain and bilateral S1 radiculopathy, with more severe symptoms on the left side. Magnetic resonance imaging revealed a 7 cm oval-shaped mass with homogeneous contrast enhancement, obstructing the spinal canal from L3/L4 to L5/S1 levels. Initially, a myxopapillary ependymoma was suspected, but the patient's sensory and motor functions suddenly deteriorated during hospitalization. Repeat magnetic resonance imaging indicated heterogeneous contrast enhancement, indicating acute intratumoral hemorrhage. Consequently, the patient underwent emergent L3-L5 laminotomy, with successful gross total resection of the tumor. Histopathological and immunohistochemical analyses confirmed the diagnosis of intradural extraskeletal Ewing sarcoma. Adjuvant therapy was administered to minimize the risk of local recurrence or distant metastasis. A systematic review of relevant literature, along with retrospective analysis of medical records, operative reports, radiological studies, and histopathological findings of similar cases, was also conducted. CONCLUSIONS: Intradural extraskeletal Ewing sarcoma is an infrequently encountered condition in adult patients, emphasizing the importance of considering it in the differential diagnosis of spinal tumors. Surgeons must possess a comprehensive understanding of this rare entity to ensure accurate staging and optimal management, particularly in the early stages when prompt intervention may improve prognosis.

Ependymomas of the spinal region in adults: Clinical and pathological features and MYCN expression levels in spinal ependymomas and myxopapillary ependymomas.

BACKGROUND: Ependymomas (EPNs) of the spinal region are a heterogeneous group of tumors that account for 17.6 % in adults. Four types have been recognized: subependymoma, spinal ependymoma (Sp-EPN), myxopapillary ependymoma (MPE), and Sp-EPN-MYCN amplified, each with distinct histopathological and molecular features. METHODS: This study investigated the clinical and pathological characteristics and MYCN expression levels of 35 Sp-EPN and MPE cases diagnosed at a tertiary university hospital over a decade-long period. RESULTS: Twenty-five cases were Sp-EPN and 10 cases were MPE, and were graded as WHO grade 2, except for 1 Sp-EPN case with grade 3 features. The most common symptoms were lower back pain and difficulty in walking. Radiology showed different tumor sizes and locations along the spinal cord, with MPEs exclusively in the lumbosacral region. Surgery was the main treatment, and gross total resection was achieved in all cases except for one. Immunohistochemistry showed low Ki-67 proliferation indices in all cases, and no MYCN expression. During follow-up, 3 (8.6 %) cases recurred and/or metastasized and 5 cases (14.3 %) died. No significant difference was found in disease-free survival or overall survival between Sp-EPN and MPE cases. However, 3 cases with grade 2 histology demonstrated recurrence and/or metastasis, despite the lack of MYCN expression. CONCLUSION: Our results underscore the multifactorial nature of tumor aggressiveness in EPNs of the spinal region. This study enhances our knowledge of the clinical and pathological features of Sp-EPNs and MPEs and highlights the need for better diagnostic and prognostic markers in these rare tumors.

Implications of DNA Methylation Classification in Diagnosing Ependymoma.

BACKGROUND: Ependymoma is a central nervous system (CNS) tumor that arises from the ependymal cells of the brain's ventricles and spinal cord. The histopathology of ependymomas is indistinguishable regardless of the site of origin, and the prognosis varies. Recent studies have revealed that the development site and prognosis reflect the genetic background. In this study, we used genome-wide DNA methylation array analysis to investigate the epigenetic background of ependymomas from different locations treated at our hospital. METHODS: Four cases of posterior fossa ependymomas and 11 cases of spinal ependymomas were analyzed. RESULTS: DNA methylation profiling using the DKFZ methylation classifier showed that the methylation diagnoses of the 2 cases differed from the histopathological diagnoses, and 2 cases could not be classified. Tumor that spread from the brain to the spinal cord was molecularly distinguishable from other primary spinal tumors. CONCLUSIONS: Although adding DNA methylation classification to conventional diagnostic methods may be helpful, the diagnosis in some cases remains undetermined. This may affect decision-making regarding treatment strategies and follow-up. Further investigations are required to improve the diagnostic accuracy of these tumors.

Pediatric spinal ependymoma with chromothripsis of chromosome 6: a case report and review of the literature.

BACKGROUND: Ependymomas are the third most common central nervous system tumor in the pediatric population; however, spinal ependymomas in children are rare. Ependymomas affecting the spinal cord most frequently occur in adults of 20-40 years of age. The current World Health Organization classification system for ependymomas is now composed of ten different entities based on histopathology, location, and molecular studies, with evidence that the new classification system more accurately predicts clinical outcomes. CASE PRESENTATION: We present the case of a 16-year-old Caucasian female patient with a history of type 2 neurofibromatosis with multiple schwannomas, meningioma, and spinal ependymoma. Chromosome analysis of the harvested spinal ependymoma tumor sample revealed a 46,XX,-6,+7,-22,+mar[16]/46,XX[4] karyotype. Subsequent OncoScan microarray analysis of the formalin-fixed paraffin-embedded tumor sample confirmed + 7, -22 and clarified that the marker chromosome represents chromothripsis of the entire chromosome 6 with more than 100 breakpoints. Fluorescent in situ hybridization and microarray analysis showed no evidence of MYCN amplification. The final integrated pathology diagnosis was spinal ependymoma (central nervous system World Health Organization grade 2 with no MYCN amplification. CONCLUSION: This case adds to the existing literature of pediatric patients with spinal ependymomas and expands the cytogenetic findings that may be seen in patients with this tumor type. This case also highlights the value of cytogenetics and microarray analysis in solid tumors to provide a more accurate molecular diagnosis.

Acontractile detrusor as an initial presentation of sacral spinal cord lesion: Case series.

OBJECTIVES: This study aims to investigate cases of acontractile bladder as the initial presentation of benign and malignant spinal conditions. The focus is on the challenges in making a diagnosis and the importance of a thorough neurological evaluation. METHODS: We conducted a retrospective case series involving three patients who exhibited symptoms of acontractile bladder. Detailed clinical histories, urodynamic studies, and imaging techniques such as lumbosacral magnetic resonance imaging (MRI) were analyzed. Histopathological findings from relevant biopsies were also taken into account. RESULTS: Case 1: A 14-year-old female presented with urinary retention, back pain, and an acontractile bladder on urodynamic study. Further examination, including lumbosacral MRI and histopathology, confirmed a diagnosis of metastatic Ewing's Sarcoma. Case 2: A 39-year-old female with urinary incontinence and elevated post-void residual exhibited delayed bladder sensation. Lumbar spine MRI revealed a grade I Schwannoma after surgical resection. Case 3: A 15-year-old male with lower urinary tract symptoms and an acontractile detrusor on urodynamic study was found to have a Tarlov cyst on lumbosacral MRI. CONCLUSION: Atonic or Underactive bladder syndrome may be the initial presentation of a serious spinal condition. Complete neurological evaluation is mandatory if no obvious clinical cause.

MYCN immunohistochemistry as surrogate marker for MYCN-amplified spinal ependymomas.

MYCN (master regulator of cell cycle entry and proliferative metabolism) gene amplification defines a molecular subgroup of spinal cord ependymomas that show high-grade morphology and aggressive behavior. Demonstration of MYCN amplification by DNA methylation or fluorescence-in situ hybridization (FISH) is required for diagnosis. We aimed to (i) assess prevalence and clinicopathological features of MYCN-amplified spinal ependymomas and (ii) evaluate utility of immunohistochemistry (IHC) for MYCN protein as a surrogate for molecular testing. A combined retrospective-prospective study spanning 8 years was designed during which all spinal cord ependymomas with adequate tissue were subjected to MYCN FISH and MYCN IHC. Among 77 spinal cord ependymomas included, MYCN amplification was identified in 4 samples from 3 patients (3/74, 4%) including two (1st and 2nd recurrences) from the same patient. All patients were adults (median age at diagnosis of 32 years) including two females and one male. The index tumors were located in thoracic (n = 2) and lumbar (n = 1) spinal cord. One of the female patients had neurofibromatosis type 2 (NF2). All four tumors showed anaplastic histology. Diffuse expression of MYCN protein was seen in all four MYCN-amplified samples but in none of the non-amplified cases, thus showing 100% concordance with FISH results. On follow-up, the NF2 patient developed widespread spinal dissemination while another developed recurrence proximal to the site of previous excision. To conclude, MYCN-amplified spinal ependymomas are rare tumors, accounting for ~ 4% of spinal cord ependymomas. Within the limitation of small sample size, MYCN IHC showed excellent concordance with MYCN gene amplification.

Epidemiology and Comparative Analysis of Outcomes of Intramedullary Spinal Cord Tumor Between Pediatric and Adult Patients.

STUDY DESIGN: This was as clinical retrospective study. OBJECTIVES: We sought to evaluate the characteristics of Pediatric intramedullary spinal cord tumors (PISCTs) and to identify differences between pediatric and adult intramedullary spinal cord tumors. SUMMARY OF BACKGROUND DATA: PISCTs represent a rare clinical entity with limited evidence-base in the literature. METHODS: This study is a subanalysis of the retrospective multicenter observational study authorized by the Neurospinal Society of Japan, including consecutive patients with spinal intramedullary tumors treated surgically at 58 institutions between 2009 and 2020. Data on 1080 intramedullary spinal cord tumors were obtained, consisting of 91 pediatric and 939 adult patients. Survival was compared using Cox hazard regression while clinical differences were evaluated using multivariable logistic regression that controlled for confounders. RESULTS: Pediatric patients had a shorter overall, and progression-free, survival than adults. Pediatric patients with ISCTs were likely to have scoliosis [odds ratio (OR) = 6.49, 95% CI: 2.26-18.7], short preoperative symptom duration (OR = 0.99, 95% CI: 0.98-0.99), lower incidence of paresthesia (OR = 0.41, 95% CI: 0.22-0.77), higher incidence of paresis (OR = 2.10, 95% CI: 1.01-4.35), histopathology of astrocytoma (OR = 2.97, 95% CI: 1.19-7.43), and postoperative functional deterioration upon discharge (OR = 2.83, 95% CI: 1.43-5.58). Age was not a statistically significant prognostic factor of overall survival among the pediatric cohort. CONCLUSION: We found that the clinical characteristics of ISCTs differed between pediatric and adult patients. In terms of histopathological types, astrocytoma was most common in pediatric patients. ISCT occurring at an early age may not be an indicator for poor prognosis.

Metameric pruritus as the sole manifestation of an intramedullary tumor in a toddler.

An 18-month-old child presented with persistent pruritus and excoriation involving the right T9 and T10 dermatomes. She did not exhibit any other dermatological or neurological anomalies. Based on magnetic resonance imaging investigation of the spine, T8 ganglioglioma was diagnosed and surgically removed resulting in resolution of the pruritus within a few days. This observation underlines the importance of neuroimaging in patients presenting with metameric pruritus without specific skin lesions, especially in young children.

Hemangioblastomas of the cauda equina: Clinical features and long-term surgical outcomes.

BACKGROUND: Spinal hemangioblastomas (HBs) that involving cauda equina are rare. Data on clinical characteristics and long-term intervention outcomes of patients harboring cauda equina HBs remain lacking due to its scarcity. OBJECTIVE: This study aims to present the clinical-radiological features and treatment results of this rare pathology by using cases from a single center. METHODS: A review of demographic data and intervention outcomes of patients harboring cauda equina HBs in our department between 2009 and 2020 was retrospectively carried out. RESULTS: Ten consecutive adult patients were incorporated, with a slight female predominance (n = 6, 60%). The mean age was 39.9 ± 14.7 (range: 18-58) years. Six patients (60%) had von Hippel‒Lindau (VHL) syndrome and showed multiple symptoms and severe neurological deficits, while 4 (40%) were in the sporadic group and only presented pain symptoms. During follow-up, 3 patients (30%) experienced lesion relapse and underwent repeated surgery. Favorable outcomes were achieved in all patients. CONCLUSION: Cauda equina HBs are rare spinal vascular lesions that should be differentiated from other lumbar canal lesions. Total surgical resection is the main treatment modality and can benefit patients, even recurrent patients. The treatment outcome is usually satisfactory, especially in sporadic cases.

[Case of Long-Term Response to Radiotherapy for Intramedullary Spinal Cord Metastasis from Ovarian Cancer after Surgery].

Intramedullary spinal cord metastasis(ISCM)often causes spinal cord neuropathy and should be treated as an oncologic emergency. However, it recurs in most cases after treatment, ISCM is a disease with a very unfavorable prognosis. Herein, we report a successfully treated case of ISCM with emergent and high-dose radiotherapy. A 53-year-old woman had difficulty walking without assistance 2 years after surgery for ovarian cancer. She received emergent radiotherapy at a total dose of 50 Gy in 25 fractions. Her neurological symptoms dramatically improved over 3 weeks after radiotherapy. ISCM has been controlled using the imaging tests at 5 years after radiotherapy. We believe that both emergent and high-dose radiotherapy were effective for ISCM.

Prognostic scoring system for surgical treatment of intramedullary spinal cord metastases.

Although rare, intramedullary spinal cord metastases (ISCMs) are on the rise, most likely due to prolonged survival and improved outcomes as a result of the advances in cancer treatment for cancer patients. While the management of these lesions remains controversial, surgery for ISCM has recently been advocated for selected patients. We performed a retrospective analysis on 30 patients who were surgically treated for intramedullary spinal cord metastases in order to determine a preoperative prognostic scoring system to guide patient selection for surgical interventions. The scoring system was designed to decide between surgery or other therapeutic procedures. The five parameters selected and employed in the assessment system were: 1) patient's general condition, 2) age, 3) primary site of the cancer, 4) number of other extramedullary metastases and 5) severity of neurologic symptoms. Prognosis could not be predicted from a single parameter. These five factors were added together to give a prognostic score between 1 and 10. The average survival period of patients with a prognostic score between 1 and 3 points was 3 months; 11 patients with a score of 4 and 5 points had a mean survival of 7.63 months, while patients with a prognostic score between 6 and 10 was 14.8 months. According to our prognostic scoring system for surgical treatment of ISCM, surgery should be performed in those patients who score above 6 points, while radiotherapy/chemotherapy or palliative care is recommended for those who score between 1 and 3 points. A prognostic score of 4 and 5 represents a grey area where surgeons must use their judgment on whether to intervene either medically or surgically. This scoring system could facilitate decision-making in the management of patients with intramedullary spinal cord metastases.

Neurological Outcome and Respiratory Insufficiency in Intramedullary Tumors of the Upper Cervical Spine.

Background and Objectives: Intramedullary spinal cord tumors (IMSCT) are rare entities. A location in the upper cervical spine as a highly eloquent region carries the risk of postoperative neurological deficits, such as tetraparesis or respiratory dysfunction. Evidence for respiratory dysfunction is scarce. This study aimed to describe these highly eloquent tumors' early and late postoperative clinical course. Materials and Methods: This is a single-center retrospective cohort study. We included 35 patients with IMSCT at levels of the craniocervical junction to C4 who underwent surgical treatment between 2008 and 2022. The authors analyzed the patients' preoperative status, tumor- and surgery-specific characteristics, and follow-up functional status. Results: The study cohort included twenty-two patients with grade II ependymoma (62.9%), two low-grade astrocytomas (5.7%), two glioblastomas (5.7%), six hemangioblastomas (17.1%), two metastases (5.7%), and one patient with partially intramedullary schwannoma (2.9%). Gross total resection was achieved in 76% of patients. Early dorsal column-related symptoms (gait ataxia and sensory loss) and motor deterioration occurred in 64% and 44% of patients. At a follow-up of 3.27 ± 3.83 years, 43% and 33% of patients still exhibited postoperative sensory and motor deterioration, respectively. The median McCormick Scale grade was 2 in the preoperative and late postoperative periods, respectively. Only three patients (8.6%) developed respiratory dysfunction, of whom, two patients, both with malignant IMSCT, required prolonged invasive ventilation. Conclusions: More than 60% of the patients with IMSCT in the upper cervical cord developed new neurological deficits in the immediate postoperative period, and more than 40% are permanent. However, these deficits are not disabling in most cases since most patients maintain functional independence as observed by unchanged low McCormick scores. The rate of respiratory insufficiency is relatively low and seems to be influenced by the rapid neurological deterioration in high-grade tumors.

Impact of surgical treatment for intramedullary spinal cord metastasis on neurological function and survival: A multicenter retrospective study by the Neurospinal Society of Japan.

BACKGROUND: This retrospective multicenter study aimed to analyze the characteristics and surgical outcomes of intramedullary spinal cord metastasis (ISCM) and to discuss the controversy regarding its surgical indications. METHODS: This study included 29 ISCM patients who underwent surgery between 2009 and 2020. Biopsy cases were excluded from analysis. For functional and neurological functional assessments, Karnofsky Performance Status (KPS, %) and modified McCormick Scale (MMS, 5-grade scale) scores were determined before and after surgery. Patients were divided into two groups: a mild-to-moderate disability group with preoperative MMS grades 1 to 3, and a severe disability group with preoperative MMS grades 4 to 5. RESULTS: The mean preoperative KPS was 45.9, and the mean duration from symptom onset to surgical intervention was 1 month. The ISCM was located in the cervical spine in 10 cases and the thoracic spine in 19 cases. The access route (myelotomy) for ISCM removal was via the posterior median sulcus in 9 cases and via the posterior lateral sulcus in 11 cases, while others were not recorded. The degree of removal was gross total resection in 20 patients (69%), subtotal resection in 0 patients, and partial removal in 9 patients (31%). No significant complications related to the surgical procedures were recorded. Postoperative adjuvant therapy included radiotherapy in 17 patients (58.6%) and chemotherapy or molecular targeted therapy in 13 patients (44.8%). Pathological findings of ISCM showed that colorectal cancer was the most common in 9 cases, followed by lung cancer in 7, renal cell carcinoma in 5, and breast cancer in 2. Twenty-one of the 29 patients (72.4%) were confirmed to have survived 6 months after surgery: 8 of the 10 patients (80%) in the mild-to-moderate disability group and 13 of the 19 patients (68.4%) in the severe disability group. At 6 months after surgery, 3 of the 8 patients (38%) in the mild-to-moderate group were able to maintain or improve their function. Eleven of the 13 patients (85%) in the severe disability group maintained their function despite being severely disabled. CONCLUSIONS: This study suggests that surgical treatment can maintain or improve neurological function in a limited number of patients with ISCM, although it had minimal impact on improving the survival rate after surgery.

A rare presentation of a spinal diffuse midline glioma in a child: a case report.

Our patient had an extremely rare type of pediatric Diffuse Midline Glioma (DMG) with modified H3 K27 that occurred in the cervical spinal cord. Due to its location in the spinal cord, slow clinical presentation with torticollis for 7 months, and the non-specific radiological appearance of this tumour, it was initially considered to be a low-grade glioma. Based on imaging findings, the neurosurgery team performed a complete surgical resection, but the pathological features were consistent with a high-grade, diffuse midline glioma. Therefore, we are reporting a case of an altered high-grade DMG H3K27 glioma, which is difficult to diagnose due to its slow clinical symptoms which caused a delay in diagnosis, non-specific imaging, and with difficulty in accessing histopathological markers in low and middle income countries (LMIC).