Search Results (25)

Background: Primary spinal gliomas are rare in the pediatric population. Separately, FGFR1 genomic aberrations are also uncommon in spinal cord tumors. We report a case of a previously well adolescent who presented with progressive symptoms secondary to an intramedullary tumor with unique radiological and molecular characteristics. Case Presentation: A previously well 17-year-old male presented with worsening mid-back pain associated with lower limb long-tract signs. Magnetic resonance imaging (MRI) of his neuro-axis reported a long-segment intramedullary lesion with enhancing foci and a multi-septate syrinx containing hemorrhagic components from C4 to T12. The largest enhancement focus was centered at T7. Additional MRI sequences observed no intracranial involvement or vascular anomaly. He underwent an emergent laminoplasty and excision of the thoracic lesion. Intraoperative findings demonstrated a soft, grayish intramedullary tumor associated with extensive hematomyelia that had multiple septations. Active fenestration of the latter revealed blood products in various stages of resolution. Postoperatively, the patient recovered well, with neurological improvement. Final histology reported a circumscribed low-grade glial neoplasm. Further molecular interrogation via next-generation sequencing panels showed activating FGFR1 p.K656E and V561M missense alterations. The unique features of this case are presented and discussed in corroboration with a focused literature review. Conclusions: We highlight an interesting case of an intramedullary tumor with unusual radiological and pathological findings. Emphasis is on the importance of tissue sampling in corroboration with genomic investigations to guide clinical management. Full article

Primary spinal cord tumors are rare neoplasms representing 2–4% of central nervous system tumors. Despite their low incidence, their impact on neurological function is profound. Historically, tumor classification and management have relied primarily on histopathology. However, advances in molecular diagnostics have highlighted the critical role of genetic alterations in tumor behavior, prognosis, and treatment response. This narrative review summarizes current evidence on genetic mutations in primary intramedullary spinal cord tumors, focusing on their prognostic value and implications for clinical management. Emphasis is placed on the integration of genetic features into diagnostic criteria and clinical practice, as distinct molecular profiles define many spinal cord tumor subtypes. Integration of molecular diagnostics into spinal cord tumor management represents a paradigm shift from morphology-based to biology-driven practice. Genetic alterations inform prognosis, refine risk stratification, and increasingly guide therapeutic decision-making, including the use of targeted therapies and adjuvant radiation. Despite progress, challenges remain due to the rarity of these tumors, small sample sizes, and limited access to molecular testing. Ultimately, molecular precision promises to enhance survival and quality of life for patients with these rare but impactful tumors. Full article

The aim of this work is to analyse the effectiveness of the medical use of the Cavitron Ultrasonic Surgical Aspirator (CUSA) in microsurgical treatment of Intramedullary Spinal Cord Tumors (IMSCTs), with a focus on the thermo-mechanical effects on neighbouring tissues to assess any potential damage. Indeed, CUSA emerges as an innovative solution, minimally invasive tumor excision technique, enabling controlled and focused operations. This study employs a Finite Element Analysis (FEA) to simulate the vibratory and thermal interactions occurring during CUSA application. A computational model of a vertebral column segment affected by an IMSCT was developed and analysed using ANSYS 2024 software. The simulations examined strain distribution, heat generation, and temperature propagation within the biological tissues. The FEA results demonstrate that the vibratory-induced strain remains highly localised to the application site, and thermal effects, though measurable, do not exceed the critical safety threshold of 46 °C established in the literature. These findings suggest that CUSA can be safely used within defined operational parameters, provided that energy settings and exposure times are carefully managed to mitigate excessive thermal accumulation. These conclusions contribute to the understanding of the thermo-mechanical interactions in ultrasonic tumour resection and aim to assist medical professionals in optimising surgical protocols. Full article

Purpose: Intramedullary spinal cord tumors (IMSCTs) account for 2–8% of all primary CNS tumors, with ependymal tumors astrocytic tumors and hemangioblastoma being the most prevalent. Due to scarcity of large-scale studies, we aim to provide insights into the long-term neurological and functional outcomes following their resection. Methods: A single-center study where retrospective review of all patients’ medical records with IMSCT resection between October 2001 and March 2023 was conducted. Data on demographic characteristics, clinical presentations, and surgical outcomes were collected and analyzed. Results: This study included 253 patients (57.7% male) with a mean age of 36.2 ± 19. The cohort comprised ependymal tumors (45.1%), astrocytic tumors (35.6%), hemangioblastoma (11.1%), and miscellaneous tumors (n = 21; 8.3%). Differences were observed in age at surgery (p < 0.001) and mortality (p = 0.002) across tumor types. Gross total resection was more frequently achieved in hemangioblastoma (96.4%) and ependymal tumors (82.5%) compared to astrocytic tumors (55.6%) (p < 0.001). Long-term postoperative improvements were significant, with reductions in numbness from 74.7% to 52.2%, pain from 42.2% to 25.7%, and bladder incontinence from 23.7% to 11.6%, particularly in ependymal tumors and astrocytic tumors. Kaplan–Meier analysis showed that patients with ependymal tumors had the highest overall survival rates (94.8% at 5 years, 86.7% at 10 years, 76.3% at 15 years, and 65.4% at 20 years) compared to hemangioblastoma (88.7% at 5 and 10 years, and 53.2% at 15 years) and astrocytic tumors (67.8% at 5 years, 58.1% at 10 and 15 years) (p = 0.001). Conclusions: This study highlights the differences in survival and long-term functional outcomes among patients with IMSCTs based on tumor histology and grade. Full article

Introduction: Intradural extramedullary and intramedullary spinal tumors are rare, complex to treat, and require advanced surgical techniques. Ultrasonic aspirators, commonly used for tumor removal, can cause sensory and motor deficits, including loss of motor evoked potentials (MEPs). This study aims to evaluate the safety and efficacy of ultrasonic aspirators in intramedullary tumor surgery using a swine model, comparing different systems and techniques. Methods: Ten pigs underwent D1-D3 laminectomy and myelotomy, with adipose tissue simulating a tumor. The ultrasonic aspirators were tested under varying conditions (fragmentation power, suction, application time, and vibration mode). The primary endpoint is to evaluate the impact of the chosen variables on motor function damage. The secondary endpoints are histological evaluation of the type of damage caused by ultrasound aspirators and the effect of steroid drugs on MEPs’ impairment recovery. Results: Ultrasound aspirators can cause a significant MEP signal reduction when used in continuous mode, with fragmentation power >30 for more than 2 min (p < 0.001). Suction does not affect MEPs. When used in alternating/pulsatile mode, fragmentation power and application time do not affect MEPs. The two-way ANOVA analysis on the interaction between fragmentation power and application time in continuous mode did not demonstrate a significant interaction (p = 0.155). Time alone does not affect motor damage (p = 0.873). Betamethasone can restore MEPs’ signal after damage if administered immediately. Conclusions: Using ultrasonic aspirators in an animal model of intramedullary tumor surgery is safe. The main factor that resulted in the responsibility of motor function impairment is the fragmentation power. Full article

Introduction: Hemangioblastomas (HBs) are benign, highly vascular tumors that can be found intracranially or in the spinal region, representing around 2–15% of primary intramedullary tumors. They can occur sporadically or in association with Von Hipple–Lindau (VHL) disease. Despite recent of advancement of nonsurgical treatments, complete surgical resection remains the gold standard of care for the spinal HBs. Materials and Methods: We conducted an international multicenter retrospective analysis of adult patients surgically treated for spinal HBs in four European referral centers between January 2000 and September 2024, with a minimum post-operative follow-up duration of 6 months. Patients’ sex and age at surgical intervention, clinical presentation, and duration symptoms prior to clinical diagnosis were identified. The pre- and post-operative neurological status at 1 and 6 months and at the last visit was assessed using the modified McCormick score (MCS). The extent of surgical resection was divided into gross total resection (GTR) and subtotal resection (STR). Finally, post-operative complications were inspected as well, namely cerebrospinal fluid leaks, infections, hemorrhages and post-operative spinal stability. Results: A total of 35 patients were included in the cohort, with an age median of 52 years (34.5–60) and a slight male predominance (21/35, i.e., 60%). The median follow-up period was 37.5 months (12–75). More than half were located in the cervical region, making it the most common (54.3%). Syrinxes were observed in 23 cases (72%), and HBs were more commonly intramedullary (80%). GTR was achievable in around 88% of cases. Post-operative complications were observed in nine patients (25.7%). Nearly half of patients were discharged into rehabilitations centers (48.5%). Tumor recurrence was seen in 10.3% only. At the last follow-up, an excellent overall post-operative neurological status (positive ∆ McCormick) was observed in most of patients (88%) and was found to be associated with a relatively younger age group. Tumor location and presence of syrinxes did not show any statistical significance regarding clinical outcome. In patients having benefited from intra-operative monitoring, only D-wave changes showed statistical significance regarding post-operative outcome (p < 0.05). Conclusions: A large majority of patients operated for a spinal HB demonstrated favorable outcome after surgery, with unchanged or improved neurological status. Advanced age could have an impact on the post-operative neurological outcome. Other factors such as tumor size, location, and the presence of syrinx did not seem to significantly impact the neurological outcome. Finally, the surgery of these vascular lesions with no possibility of debulking or piece-meal removal and requiring “en bloc” resection is technically demanding and should be performed by experienced teams in spine and spinal cord surgery only. Full article

Background/Objectives: While most studies on the postoperative condition of patients with spinal cord tumors describe long-term outcomes, data are needed on immediate surgical outcomes demanding rehabilitation to make informed assessments for postoperative planning. The aim of this study was to identify factors predicting function and rehabilitative needs after intradural spinal tumor surgery. Methods: Eighty-five prospectively recruited patients underwent surgery for intradural intramedullary (ID-IM; n = 23) and extramedullary (ID-EM; n = 62) tumors. Neurological and functional status were assessed before surgery, after surgery, and at discharge using the modified McCormick scale (MMS), Karnofsky performance status (KPS) scale, Barthel index (BI), and the gait index (GI). Results: There were no significant predictors of early postoperative rehabilitation in the ID-IM group. In the ID-EM group, age, thoracic level, subtotal resection (STR), repeat surgery, and functional scale scores predicted the need for rehabilitation. In multivariable analysis, MMS (odds ratio (OR) 8.7; 95% confidence interval (CI): 2.37–32.44) and STR (OR 13.00; 95%CI: 1.56–107.87) remained independent predictors of rehabilitation need (area under curve, 92%). Despite their younger age, most patients with ID-IM tumors, especially ependymomas, required rehabilitation but improved quickly (KPS, BI, p < 0.001). Among ID-EM tumors, meningiomas were characterized by poorer preoperative function and low gross total resection (GTR) rates, but did not deteriorate neurologically after surgery. Patients with schwannoma and ID-EM ependymomas achieved the highest GTR rate and had the best function both before and after surgery. Conclusions: These results may be useful for estimating early rehabilitation needs after intradural tumor surgery and counseling patients before surgery about the expected postoperative course. Full article

Background/Objectives: Spinal astrocytomas (SA) represent 30–40% of all intramedullary spinal cord tumors (IMSCTs) and present significant clinical challenges due to their aggressive behavior and potential for recurrence. We aimed to pool the evidence on SA and investigate predictors of regrowth or recurrence after surgical resection. Methods: A systematic review and meta-analysis were conducted on peer-reviewed human studies from several databases covering the field of SA. Data were collected including sex, age, tumor location, extent of resection, histopathological diagnosis, and adjuvant therapy to identify predictors of SA recurrence. Recurrence was defined as failure of local tumor control or regrowth after treatment. Results: A total of 53 studies with 1365 patients were included in the meta-analysis. A postoperative deterioration in neurological outcomes, as assessed by the modified McCormick scale, was noted in most of the patients. The overall recurrence rate amounted to 41%. On meta-analysis, high-grade WHO tumors were associated with higher odds of recurrence (OR = 2.65; 95% CI: 1.87, 3.76; p = 0.001). Similarly, GTR was associated with lower odds of recurrence compared to STR (OR = 0.33; 95% CI: 0.18, 0.60; p = 0.0003). Sex (p = 0.5848) and tumor location (p = 0.3693) did not show any significant differences in the odds of recurrence. Intraoperative neurophysiological monitoring was described in 8 studies and adjuvant radiotherapy in 41 studies. Conclusions: The results highlight the significant importance of tumor grade and extent of resection in patient prognosis. The role of adjuvant radiotherapy remains unclear, with most studies suggesting no differences in outcomes, with limitations due to potential confounders. Full article

Intramedullary spinal cord glioblastoma (ISCG) is lethal due to lack of effective treatment. We previously established a rat C6-ISCG model and the antitumor effect of F3.CD-TK, an hNSC line expressing CD and TK, via producing cytocidal 5FU and GCV-TP. However, the neurotherapeutic potential of this hNSC approach has remained uninvestigated. Here for the first time, cultured F3.CD-TK cells were found to have a markedly higher oncolytic effect, which was GJIC-dependent, and BDNF expression but less VEGF secretion than F3.CD. In Rowett athymic rats, F3.CD-TK (1.5 × 10⁶ cells/10 µL × 2), injected near C6-ISCG (G55 seeding 7 days earlier: 10 K/each) and followed by q.d. (×5/each repeat; i.p.) of 5FC (500 mg/kg/5 mL/day) and GCV (25 mg/kg/1 mL/day), robustly mitigated cardiorespiratory, locomotor, and sensory deficits to improve neurofunction and overall survival compared to animals receiving either F3.CD or F3.CD-TK+F3.CD debris formula. The F3.CD-TK regimen exerted greater tumor penetration and neural inflammation/immune modulation, reshaped C6-ISCG topology to increase the tumor’s surface area/volume ratio to spare/repair host axons (e.g., vGlut1+ neurites), and had higher post-prodrug donor self-clearance. The multimodal data and mechanistic leads from this proof-of-principle study suggest that the overall stronger anti-ISCG benefit of our hNSC-based GDEPT is derived from its concurrent oncolytic and neurotherapeutic effects. Full article

Primary intracranial melanoma is a very rare brain tumor, especially when accompanied by benign intramedullary melanocytoma. Distinguishing between a primary central nervous system (CNS) lesion and metastatic melanoma is extremely difficult, especially when the primary cutaneous lesion is not visible. Here we report a 13-year-old girl admitted to the Neurosurgery Department of the Institute of Polish Mother’s Health Centre in Lodz due to upper limb paresis. An intramedullary tumor of the cervical C3–C4 and an accompanying syringomyelic cavity C1–C7 were revealed. The child underwent partial removal of the tumor due to the risk of damage to spinal cord motor centers. The removed part of the tumor was diagnosed as melanocytoma. Eight months later, a neurological examination revealed paresis of the right sixth cranial nerve, accompanied by bilateral optic disc edema. Diagnostic imaging revealed a brain tumor. The girl underwent resection of both detected the tumors and an additional satellite lesion revealed during the surgery. The removed tumors were diagnosed as malignant melanomas in pathomorphological examination. Molecular analysis revealed NRASQ61K mutation in both the intracranial and the intramedullary tumor. It should be noted that in cases where available evidence is inconclusive, an integrative diagnostic process is essential to reach a definitive diagnosis. Full article

This pilot study aimed to investigate the interest of high angular resolution diffusion imaging (HARDI) and tractography of the spinal cord (SC) in the management of patients with intramedullary tumors by providing predictive elements for tumor resection. Eight patients were included in a prospective study. HARDI images of the SC were acquired using a 3T MRI scanner with a reduced field of view. Opposed phase-encoding directions allowed distortion corrections. SC fiber tracking was performed using a deterministic approach, with extraction of tensor metrics. Then, regions of interest were drawn to track the spinal pathways of interest. HARDI and tractography added value by providing characteristics about the microstructural organization of the spinal white fibers. In patients with SC tumors, tensor metrics demonstrated significant changes in microstructural architecture, axonal density, and myelinated fibers (all, p < 0.0001) of the spinal white matter. Tractography aided in the differentiation of tumor histological types (SC-invaded vs. pushed back by the tumor), and differentiation of the spinal tracts enabled the determination of precise anatomical relationships between the tumor and the SC, defining the tumor resectability. This study underlines the value of using HARDI and tractography in patients with intramedullary tumors, to show alterations in SC microarchitecture and to differentiate spinal tracts to establish predictive factors for tumor resectability. Full article

Intramedullary primary spinal cord tumors are rare in adults and their classification has recently evolved. Their treatment most frequently relies on maximal safe surgical resection. Herein, we review, in light of the WHO 2021 classification of central nervous system tumors, the knowledge regarding the role of radiotherapy and systemic treatments in spinal ependymomas, spinal astrocytomas (pilocytic astrocytoma, diffuse astrocytoma, spinal glioblastoma IDH wildtype, diffuse midline glioma H3-K27M altered, and high-grade astrocytoma with piloid features), neuro-glial tumors (ganglioglioma and diffuse leptomeningeal glioneuronal tumor), and hemangioblastomas. In spinal ependymomas, radiotherapy is recommended for incompletely resected grade 2 tumors, grade 3 tumors, and recurrent tumors not amenable to re-surgery. Chemotherapy is used in recurrent cases. In spinal astrocytomas, radiotherapy is recommended for incompletely resected grade 2 astrocytomas and grade 3 or 4 tumors as well as recurrent tumors. Chemotherapy is indicated for newly diagnosed high-grade astrocytomas and recurrent cases. In hemangioblastomas not amenable to surgery, radiotherapy is an effective alternative option. Targeted therapies are playing an increasingly important role in the management of some intramedullary primary spinal cord tumor subtypes. BRAF and/or MEK inhibitors have demonstrated efficacy in pilocytic astrocytomas and glioneuronal tumors, belzutifan in von Hippel–Lindau-related hemangioblastomas, and promising results have been reported with ONC201 in diffuse midline glioma H3-K27M altered. Full article

Intramedullary spinal cord tumors (IMSCTs) harbor unique genetic mutations which may play a role in prognostication and management. To this end, we present the largest cohort of IMSCTs with genetic characterization in the literature from our multi-site institutional registry. A total of 93 IMSCT patient records were reviewed from the years 1999 to 2020. Out of these, 61 complied with all inclusion criteria, 14 of these patients had undergone genetic studies with 8 undergoing whole-genomic sequencing. Univariate analyses were used to assess any factors associated with progression-free survival (PFS) using the Cox proportional hazards model. Firth’s penalized likelihood approach was used to account for the low event rates. Fisher’s exact test was performed to compare whole-genome analyses and specific gene mutations with progression. PFS (months) was given as a hazard ratio. Only the absence of copy neutral loss of heterozygosity (LOH) was shown to be significant (0.05, p = 0.008). Additionally, higher risk of recurrence/progression was associated with LOH (p = 0.0179). Our results suggest LOH as a genetic predictor of shorter progression-free survival, particularly within ependymoma and glioblastoma tumor types. Further genomic research with larger multi-institutional datasets should focus on these mutations as possible prognostic factors. Full article

Objective: The study aimed at evaluating the efficacy and the ability of D-wave monitoring combined with somatosensory evoked potentials (SSEPs) and motor evoked potentials (MEPs) to predict functional outcomes in intramedullary spinal cord tumor (IMSCT) surgery. Methods: Between December 2011 and December 2020, all patients harboring IMSCT who underwent surgery at our institution were prospectively collected in a surgical spinal registry and retrospectively analyzed. Patient charts and surgical and histological reports were analyzed. The multimodal IONM included SSEPs, MEPs, and—whenever possible—D-waves. All patients were evaluated using the modified McCormick and Frankel grade at admission and 3, 6, and 12 months of follow-up. Results: Sixty-four patients were enrolled in the study. SSEP and MEP monitoring was performed in all patients. The D-wave was not recordable in seven patients (11%). Significant IONM changes (at least one evoked potential modality) were registered in 26 (41%) of the 64 patients. In five cases (8%) where the SSEPs and MEPs lost and the D-wave permanently dropped by about 50%, patients experienced a permanent deterioration of their neurological status. Multimodal IONM (SSEP, MEP, and D-wave neuromonitoring) significantly predicted postoperative deficits (p = 0.0001), with a sensitivity of 100.00% and a specificity of 95.65%. However, D-waves demonstrated significantly higher sensitivity (100%) than MEPs (62.5%) and SSEPs (71.42%) alone. These tests’ specificities were 85.10%, 13.89%, and 17.39%, respectively. Comparing the area under ROC curves (AUCs) of these evoked potentials in 53 patients (where all three modalities of IONM were registered) using the pairwise t-test, D-wave monitoring appeared to have higher accuracy and ability to predict postoperative deficits with strong statistical significance compared with MEP and SSEP alone (0.992 vs. 0.798 vs. 0.542; p = 0.018 and p < 0.001). Conclusion: The use of multimodal IONM showed a statistically significant greater ability to predict postoperative deficits compared with SSEP, MEP, and D-wave monitoring alone. D-wave recording significantly increased the accuracy and clinical value of neurophysiological monitoring in IMSCT tumor resection. Full article

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. Full article