Spinal Cord Mass Research Articles

High-grade astrocytoma with piloid features in the conus medullaris: a rare presentation of a new World Health Organization diagnosis. Illustrative case.

Neuroepithelial tumors with histological features of pilocytic astrocytoma (PA), increased mitotic activity with high-grade features of microvascular proliferation, and palisading necrosis have often been designated as anaplastic PAs. High-grade astrocytoma with piloid features (HGAP) was recently classified as its own entity by the World Health Organization (WHO) in 2021, after being grouped under anaplastic PA. This rare tumor typically arises in the cerebellum. The authors present the case of a patient with HGAP in the conus medullaris, a rare occurrence, with only 17 reported HGAP cases in other parts of the spinal cord. An 83-year-old female patient presented with progressive lower-extremity weakness over 2 weeks. Subsequent imaging revealed an intramedullary spinal cord mass near the conus. Histopathological analysis confirmed a neuroepithelial tumor. Chromosomal microarray revealed the diagnosis of HGAP, an exceedingly unusual tumor to be found near the conus. The tumor characteristics showed uniformly low cellularity and low proliferation of medium-sized ovoid cells with elongated nuclei, embedded in a loose pilocytic matrix. This report presents the case of a patient with HGAP in the conus medullaris, a new WHO diagnosis that needs to be included in the differential diagnosis for conus masses. https://thejns.org/doi/10.3171/CASE24390.

Mycobacterial spindle cell pseudotumor of the spinal cord: Case report and literature review

We report the first description of spinal cord mycobacterial spindle cell pseudotumor. A patient with newly diagnosed advanced HIV presented with recent-onset bilateral leg weakness and was found to have a hypermetabolic spinal cord mass on structural and molecular imaging. Biopsy and cultures from blood and cerebrospinal fluid confirmed spindle cell pseudotumor due to Mycobacterium avium-intracellulare. Despite control of HIV and initial reduction in pseudotumor volume on antiretrovirals and antimycobacterials (azithromycin, ethambutol, rifampin/rifabutin), he ultimately experienced progressive leg weakness due to pseudotumor re-expansion. Here, we review literature and discuss multidisciplinary diagnosis, monitoring and management challenges, including immune reconstitution inflammatory syndrome.

Diffuse Leptomeningeal Glioneuronal Tumors: A Case Series of Five Patients with Parenchymal Forms and an Analysis of the Diagnostic Challenges, Treatment Options and Outcomes.

Diffuse leptomeningeal glioneuronal tumors (DL-GNT) are rare glioneuronal neoplasms with oligodendroglioma-like cells. These tumors can present as a dominant intracranial mass or as a solitary spinal cord mass without leptomeningeal involvement. In this study, we aimed to determine the magnetic resonance imaging and histopathological features, treatment modalities, and clinical outcomes of the parenchymal forms of DL-GNTs. This is a retrospective three-center case series study of 5 patients with a confirmed parenchymal form of DLGTs, out of which 4 patients were adults. Brain and spinal cord MR imaging were performed in all patients at either 1.5 or 3T. The patients' age ranged from 5 years to 50 years with a mean age of 27.6 years at presentation. Four of the tumors were located in the frontal lobe, and one in the tectum. They were usually solid-cystic enhancing tumors as the other mixed neuronal-glial tumors. All of the tumors had an extension to the superficial surface of a cerebral hemisphere. One had systemic bone metastases. The clinical signs and symptoms of the parenchymal form varied based on the location of the mass, in contrast to the leptomeningeal form associated with hydrocephalus. In one case, the tumor's initial grade was defined as intermediate. The initial histopathology of the two cases was low-grade and no upgrade occurred in the follow-up period. In two cases, although the tumors were low grade initially, they progressed to an anaplastic form in the follow-up period. The parenchymal form of DL-GNTs is common in adults. Extension to the superficial surface of a cerebral hemisphere is a distinctive imaging feature. Systemic osseous metastasis may occur. Due to the presence of common histopathological features, including the biphasic composition of glial and neuronal cell elements and oligodendroglioma-like cells, a proposed classification approach might be more beneficial for the histopathological and imaging description, and management of the glioneuronal tumors with oligodendroglioma-like features.

Rare case of vertebral hemangioma causing spinal compression - diagnosis and treatment: Space Occupying Lesion (SOL) study

Background. This case report highlights the importance of accurate diagnosis and treatment for intramedullary spinal cord hemangioma, which is a rare condition that can present with common symptoms of various spinal cord pathologies. The report recommends decompression laminectomy as the appropriate intervention for this condition. This report adds to the existing clinical literature on intramedullary spinal cord hemangioma and can assist clinicians in the diagnosis and treatment of similar cases. Case report. The patient is a 30-year-old female who complained of left leg heaviness, cramps, numbness, and urinary incontinence. MRI revealed a suspected intradural intramedullary lesion, as high as VTh5, suspected to be ependymoma or astrocytoma. The patient underwent decompressive laminectomy on thoracalis vertebra 5-7 and spinal cord mass with hemorrhage and calcification components was observed on post-operative Spinal CT Angiography. The mass was found to have a feeder artery from spinal branches of the left right a. intercostalis at T5 level and spinal branches of the left a. intercostalis at T6 level. Thoracolumbar spondylosis was also observed. Conclusion. The clinical impact of vertebral hemangioma lies in its potential to cause neurological deficits due to spinal cord or nerve root compression. Early diagnosis and treatment through imaging modalities such as MRI and surgical intervention, such as laminectomy, can alleviate symptoms and prevent disability or mortality. However, careful consideration of the patient’s clinical history, imaging findings, and neurological status is necessary for accurate diagnosis and appropriate management.

Magnetic resonance imaging findings and antemortem cytologic diagnosis of intramedullary spinal cord ependymoma in a dog

A 3-year-old 31.1-kg castrated male mixed-breed dog was evaluated because of a 1- to 2-week history of paraparesis, knuckling of the hind feet, and difficulty posturing to urinate or defecate. The dog was paraparetic but weakly ambulatory with a kyphotic posture, a mildly decreased patellar reflex in the right pelvic limb, increased tone in both pelvic limbs, and marked hyperesthesia on paraspinal palpation of the lumbar region. The urinary bladder was enlarged and firm on palpation. Neuroanatomic findings were primarily consistent with localization to the T3-L3 spinal cord segments. Magenetic resonance imaging of the thoracolumbar spinal column revealed a discrete intramedullary spinal cord mass from the cranial aspect of L4 to the middle of L5. The mass was sampled by fine-needle aspiration, and on cytologic evaluation, the suspected diagnosis was an ependymoma. Owing to poor prognosis and limited treatment options, the owner elected euthanasia. Postmortem examination of the spinal cord and histologic findings for samples of the mass supported a likely diagnosis of ependymoma. Ependymoma is a rare neoplasm in dogs but should be considered in young patients with evidence of a tumor in the CNS. Fine-needle aspiration of the spinal cord mass was possible in the dog of this report, and the cytologic findings provided useful diagnostic information.

Spinal cord tumor presenting with neck stiffness

Three years old boy presented with recurrent severe abdominal pain. He was treated for constipation and the pain resolved. Later he developed a limitation of neck movements. Investigations revealed a spinal cord mass. After surgical resection, histopathology confirmed pilocytic astrocytoma. The authors urge clinicians to observe for early signs of spinal cord tumor in children presenting with unusual presentations such as abdominal pain. Early recognition of spinal cord tumors and immediate treatment will prevent life‐threatening complications and improve the prognosis.

Diffuse Leptomeningeal Glioneuronal Tumor of Childhood.

Diffuse leptomeningeal glioneuronal tumor is a newly defined entity under the neuronal and mixed neuronal-glial tumors category in the 2016 World Health Organization classification of brain tumors. In this series, we report clinical, radiologic, and histologic findings in 7 cases of diffuse leptomeningeal glioneuronal tumor. Our cases and literature review indicate that the most characteristic imaging finding is diffuse intracranial and intraspinal nodular leptomeningeal thickening and enhancement. This is often associated with small cyst-like, nonenhancing lesions. It should be noted that tumors sometimes bear nontypical features, for example, presenting as a solitary spinal cord mass without leptomeningeal involvement or with a dominant intracranial mass. In children with characteristic imaging findings and without clinical features of infection, the radiologist has an opportunity to promptly raise the possibility of diffuse leptomeningeal glioneuronal tumor, and thereby, affect streamlined diagnostic evaluation.

Diffuse midline glioma of the cervical spinal cord with H3 K27M genotype phenotypically mimicking anaplastic ganglioglioma: a case report and review of the literature

Here, we report on a 28-year old male patient presenting with neck and shoulder pain, dysesthesia of all four limbs and hypesthesia of both hands, without motor deficits. Magnetic resonance imaging showed an intradural, intramedullary mass of the cervical spinal cord of 6.4 cm length and 1.7 cm diameter. The patient underwent surgical resection. Histological and immunohistochemical evaluation showed pleomorphic glial tumor cells, mitoses, calcifications, and atypical ganglioid cells compatible with the morphology of anaplastic ganglioglioma (WHO Grade III). Extensive molecular workup revealed H3F3A K27M, TERT C228T and PDGFRα Y849C mutations indicating poor prognosis. The H3F3A K27M mutation assigned the tumor to the molecular group of diffuse midline glioma (WHO Grade IV). Epigenome-wide methylation profiling confirmed the methylation class of diffuse midline glioma. Thus, this is a very rare case of malignant glioma with H3 K27M genotype phenotypically mimicking anaplastic ganglioglioma. This case emphasizes the importance of comprehensive morphological and molecular workup including methylome profiling for advanced patient care.

Intracranial Metastases of Intramedullary Spinal Cord Low-Grade Astrocytoma

AbstractThis paper reports a case of intramedullary spinal cord low-grade (LG) astrocytoma that developed brain metastases after 21 months. A 6-year-old child presented with lower spine pain and falls during daily activity. A spinal cord mass was detected using spinal magnetic resonance imaging (MRI), and brain MRI was normal. The spinal lesion was partially resected, and pathological findings revealed LG astrocytoma (WHO Grade II). The patient underwent thoracolumbar radiotherapy. He returned 21 months following initial admission with symptoms of nausea, vomiting, headaches, and seizure. Brain MRI revealed multiple intracranial masses at the posterior fossa, left lateral ventricle, cerebellopontine angles, and left Meckel cave. A recurrent lesion was detected in the thoracic and lumbar regions of the spinal cord and in the cauda equina. The patient underwent chemotherapy. This rare case warns practitioners to monitor closely the cases of spinal cord astrocytoma that are diagnosed as LG tumors based on histology.

Thoracic Endodermal Sinus Tumor with Root Compression Mimicking Guillain–Barre Syndrome in Clinical Presentation, CSF Studies, and EMG/NCV Findings

AbstractA 2-year-old boy who presented with clinical, cerebrospinal fluid, and electrophysiological findings consistent with Guillain–Barre syndrome (GBS) was found to have a thoracic spinal cord mass due to a yolk sac tumor. On examination, he had an absent anal wink and flaccid anal ring which is atypical for GBS. This case demonstrates the need for a thorough physical examination on presentation of a child with a clinical and laboratory presentation of GBS and highlights the importance of prompt imaging studies when clinical suspicion arises because of atypical clinical signs, such as absent anal wink or low rectal tone.

P11.05 Reappraisal of CNS embryonal tumors, not otherwise specified and RELA fusion negative supratentorial ependymomas using immunohistochemistry and sequencing for BCOR

Abstract BACKGROUND BCl2 co-repressor (BCOR) gene internal tandem duplications have recently been identified as the defining molecular alteration in a subset of central nervous system (CNS) high grade neuroepithelial tumors (CNS-HGNET). Their clinicopathological profile is yet to be fully elucidated with available data being largely derived from case reports and small case series. Reported cases presented in young children with a male preponderance, were located predominantly in the posterior fossa, and sometimes but not always showed an ependymoma-like morphology. BCOR protein overexpression and exon 15 internal tandem duplications were characteristic. These tumors associated with a poor overall survival. MATERIAL AND METHODS We designed a retrospective study (2002–2019) wherein all cases of CNS embryonal tumors, not otherwise specified (NOS), by definition lacking C19MC locus amplification and Lin28A protein expression, and supratentorial ependymomas (ST-EPN), NOS, lacking RELA and YAP1 fusions and L1CAM protein expression were retrieved and subject to immunohistochemistry for BCOR. Those tumors showing nuclear expression of BCOR were subject to sequencing of exon 15 of BCOR gene. RESULTS A total of 19 CNS embryonal tumors, NOS, constituting 86% of all CNS embryonal tumors other than medulloblastomas and atypical teratoid rhabdoid tumors, and 11 ST-EPN, NOS constituting 30% of all ST EPNs, were included. Diffuse nuclear staining for BCOR was seen in 6 tumors, including two patients with CNS embryonal tumor, NOS (10 year old male with spinal cord mass; 5-year-old female with left frontal mass) and 4 patients with ST-EPN-NOS (median age 15 years, ranging from 10–28 years, all females). While the CNS embryonal tumors showed high grade small round cell morphology, the remaining showed ependymoma-like morphology, but with increased cellularity and focal to diffuse membranous expression of epithelial membrane antigen and cytokeratins unlike ependymomas. Among these four patients, one was disease free at last follow-up at 17 months, while the remaining suffered recurrences within a median time duration of 26 months after diagnosis (24 months - 36 months). CONCLUSION The clinicopathological spectrum of BCOR-altered CNS tumors appears to be wider than that described in literature. We describe BCOR alterations in a subset of ependymoma-like tumors in older children and young adults with a striking female preponderance. BCOR alterations need to be studied on a broad spectrum of pediatric and adults CNS tumors to aid in better understanding of its true prevalence and biological significance.

A 62‐year‐old male with spinal cord mass

A 62‐year‐old male with spinal cord mass

Cerebellopontine Angle Glioblastoma with Concurrent Spinal Cord Involvement: A Case Report and Review of Literature

Objective: To report a unique case of cerebellopontine angle glioblastoma with concurrent spinal cord involvement. Background: Glioblastoma (GBM) is the most common primary malignancy of the central nervous system (CNS), comprising 46.6% of all CNS malignancies. By anatomic location, cerebellopontine angle (CPA) GBMs are exceedingly rare. To our knowledge, the following case represents the tenth reported case of CPA GBM and the first with a corresponding spinal cord tumor on presentation. Methods: Retrospective chart review was conducted for a patient with CPA GBM. The patient consented to the publication of her diagnostic studies. Result: A 43-year-old female presented with a 3-month history of right ear hearing loss. Brainmagnetic resonance imaging (MRI) demonstrated a right CPA mass as well as a cervical spinal cord mass of unknown histology. Pathology showed GBM, IDH wildtype and negative for the H3 K27M mutation, while the cervical spinal cord lesion was not amenable to biopsy. She received proton beam therapy with 60 Gy to the GBM and 50.4 Gy to the spinal cord tumor in 30 fractions each with concurrent Temozolomide. She received 2 cycles of adjuvant Temozolomide prior to her demise due to progressive disease. Conclusion: There are four possible origins of CPA glioblastoma: the cerebellum, brainstem, root entry zone of cranial nerve VIII, and heterotopic glial cells of the leptomeninges. Prognosis does not appear to depend on tumor origin. Outcomes are likely optimized by maximal safe resection followed by radiation and concurrent Temozolomide. Spinal cord involvement of malignant tumors can significantly adversely affect survival outcomes in such patients.

Successful step-by-step treatment of multiple tumours in neurofibromatosis type 2

Abstract A clinical study on successful treatment of multifocal brain and spinal cord lesions in neurofibromatosis type 2 in a woman aged 35 years is presented. Magnetic resonance imaging showed bilateral vestibular schwannomas, brain meningiomatosis and multiple spinal intramedullary tumours. The treatment comprised four stages: removal of giant dextral vestibular schwannomas, removal of convexital cerebral meningiomatosis, whole-brain radiation therapy and follow-up. The spinal cord mass was asymptomatic during the entire follow-up. These steps enabled achievement of a long relapse-free period and resulted in good functional outcomes.

A 36-Year-Old Woman From West Africa With Newly Diagnosed AIDS and a Spinal Cord Mass

A 36-Year-Old Woman From West Africa With Newly Diagnosed AIDS and a Spinal Cord Mass

A 36-Year-Old Woman From West Africa With Newly Diagnosed AIDS and a Spinal Cord Mass

A 36-Year-Old Woman From West Africa With Newly Diagnosed AIDS and a Spinal Cord Mass

Haemorrhagic myelomalacia in a cat with extradural T-cell lymphoma

Myelomalacia is a term used to indicate the softening of the spinal cord, which results from ischaemic or haemorrhagic necrosis that can occur as a sequel to acute spinal cord injury. A 10-month-old, female, mixed breed domestic cat exhibiting neurological symptoms was referred for evaluation. Neurological examination revealed symptoms consistent with thoracolumbar syndrome. Initial radiographic examination detected no changes of the thoracolumbar spine. The cat received a palliative treatment of and prednisolone. The patient did not respond to the treatment and one month later presented with worsening of symptoms that progressed to non-ambulatory paraplegia. Radiographic examination was performed a second time and revealed a mass inside the spinal canal at the L1 and L3 vertebral levels. The animal died and was sent for post-mortem examination. The necropsy revealed a greyish-white epidural mass inside the spinal canal that was compressing the spinal cord at the L1 and L3 vertebral levels. The spinal cord between T2 and L3 was reddish and friable. The pancreaticoduodenal lymph node was enlarged. Histologically, the spinal cord mass and pancreaticoduodenal lymph node presented neoplastic lymphocyte proliferation, and haemorrhagic myelomalacia was observed in the spinal cord from T2 to L3. Immunohistochemistry revealed that the neoplastic lymphocytes were positive for CD3 antibody (T-cell lymphoma), and the lymphoid organs showed immunostaining for feline leukaemia virus (FeLV). Haemorrhagic myelomalacia due to extradural lymphoma should be considered as a differential diagnosis in cats with spinal neurological signs.

RARE-45. PROGRESSIVE LEPTOMENINGEAL DISSEMINATION OF A DNT AFTER WEST NILE VIRUS MENINGOENCEPHALITIS

Dysembryoplastic neuroepithelial tumors(DNT) are low grade glial neuronal tumors typically occuring in the cortex and are removed as a part of epilepsy surgery. Many times when found on imaging and asymptomatic, observation is recommended. Spinal cord and leptomeningeal involvement has rarely been recorded. A 35 yo man presented with hydrocephalus in the setting of a newly diagnosed spinal cord mass. 8 months prior, he had been treated for viral meningoencephalitis due to West Nile virus. MRI of the brain revealed a multifocal cystic lesion in the cerebellum, consistent with a low grade glioneuronal tumor. Spinal MRI revealed a T2 cord lesion with meningeal enhancement, and a nodular lumbar spine lesion with meningeal enhancement. Lumbar spine biospy revealed chronic inflammation and myxoid-like foci. Since no evidence of neoplasm was found, effect of West Nile meningoencephalitis was assumed, as he still had IgM antibodies present in CSF. There was some improvement in the spinal cord imaging, with decreased size of the T2 mass, with chronic steroids, but continued lumbar enhancement. Then the patient developed progressive leptomeningeal enhancement, encasing the brain and spine, growth of the spinal cord mass and new enhancement in the cerebellar lesion over the course of the year, becoming quadriparetic. Biopsy of the cerebellar lesion and meninges again only showed a thickened dura with chronic inflammation and normal cerebellar tissue. Patient elected hospice care. Autopsy revealed a disseminated DNT. A disseminated DNT has rarely been reported. The development of this aggressive course following West Nile virus infection was noted. It has been established that West Nile virus causes S100B pathway activation in astrocytes, which is one of the oncogenic pathways that is activated in dysembryoplastic neuroepithelial tumors. We propose this additive effect may have led to an unusually aggressive behavior in a low grade tumor. Additional studies are needed.

Neurosyphilis Presenting as Myelopathy and a Spinal Cord Mass (P1.315)

Neurosyphilis Presenting as Myelopathy and a Spinal Cord Mass (P1.315)

Radiation-Induced Spinal Glioblastoma Multiforme: A Rare Complication in the Management of Head and Neck Cancer

Background: Radiation-induced gliomas of the spinal cord are rare late complications of spinal cord irradiation that typically occur in patients treated at younger ages. Aim: Raise awareness of radiation induced high grade gliomas with a case presentation and a review of the literature. Case Presentation: A 50-year-old male with Stage IVA squamous cell carcinoma of the oropharynx was treated with external beam radiotherapy with a complete response. Seven years later, he presented with a cervical spinal cord mass on MRI. An open biopsy was performed. Pathology revealed an intramedullary WHO grade IV astrocytoma, (i.e., glioblastoma multiforme) of the cervical spine that fulfilled the criteria for a radiation-induced malignancy. Conclusions : Review of the literature suggests that radiation-induced gliomas tend to be high grade and may occur at the periphery of an irradiated field. Radiation-induced gliomas of the spinal cord are a serious complication of radiotherapy that may occur in older patients with head and neck cancers, but are so rare that it should not affect treatment decisions.