Search Results (39)

We present a rare case of delayed retrobulbar and adrenal metastases from renal cell carcinoma (RCC), diagnosed 5.5 years after radical nephrectomy. The patient exhibited symptomatic orbital involvement, with imaging revealing a hypervascular retrobulbar mass and an incidental right adrenal lesion, indicative of an oligometastatic state. Owing to the patient’s refusal of surgical resection, stereotactic ablative radiotherapy (SABR) was delivered to the retrobulbar lesion at a total dose of 40 Gy in five fractions, concurrently with immune checkpoint inhibitor therapy. Treatment planning prioritized sparing adjacent critical structures, including the optic chiasm and brainstem. Follow-up over 4 years demonstrated sustained radiologic stability and volume reduction in both metastatic lesions without evidence of progression. This case underscores the potential efficacy of SABR in achieving durable local control of RCC metastases, particularly in anatomically constrained regions where surgery is unfeasible. Moreover, it highlights the value of a multidisciplinary, multimodal treatment approach incorporating advanced radiotherapy techniques and systemic immunotherapy. Lastly, it reinforces the importance of prolonged surveillance in RCC survivors due to the potential for late metastatic recurrence at uncommon sites. Full article

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of coronavirus disease 2019 (COVID-19), is known to affect multiple organ systems, including the respiratory tract and nervous and ocular systems. This retrospective study aimed to characterize the spatiotemporal distribution of viral antigen and associated pathological changes in the nose, lungs, brain, and eyes of K18-hACE2 mice intranasally infected with SARS-CoV-2. Using histology and immunohistochemistry, tissues were examined at 3, 6, and 7/8 days post-infection (dpi). In addition, lung and brain tissues were analyzed by means of RT-qPCR to determine viral RNA titers. Viral antigen was most pronounced in the nose, brain, and lung at 3, 6, and 7/8 dpi, respectively, whereas viral antigen was detected at 6 and 7/8 dpi in the retina. Quantitative PCR confirmed increasing viral RNA levels in both lung and brain, peaking at 7/8 dpi. Nasal and lung inflammation mirrored viral antigen distribution and localization. In the brain, the predominantly basal viral spread correlated with lymphohistiocytic meningoencephalitis, neuronal vacuolation, and altered neurofilament immunoreactivity. Retinal ganglion cells showed viral antigen expression without associated lesions. Microglial activation was evident in both the optic chiasm and the brain. These findings highlight the K18-hACE2 model’s utility for studying extrapulmonary SARS-CoV-2 pathogenesis. Understanding the temporal and spatial dynamics of viral spread enhances insights into SARS-CoV-2 neurotropism and its clinical manifestations. Full article

Background: The main mechanism of optic nerve damage in patients with pituitary adenoma (PA) is the pressure of optic chiasm. The retinal nerve fiber layer (RNFL), the ganglion cell layer (GCL)+, and GCL++ thickness measurement by optical coherence tomography (OCT), visual function evaluation, and magnetic resonance imaging (MRI) can be used to predict visual function recovery. In our study, we investigated the associations between visual acuity (VA), visual field (VF), RNFL, GCL changes, and the findings of MRI in patients with PA. Methods: This study was conducted in the Departments of Ophthalmology and Neurosurgery of the Lithuanian University of Health Sciences Hospital. A total of 25 patients diagnosed with PA were included in the study group, and 27 healthy subjects were included in the control group. The thickness of the RNFL and ganglion cell layer (GCL+, GCL++) and optic nerve disc diameter was analysed with OCT. Moreover, an MRI was performed for patients with PA. Results: The RNFL thickness around the optic disk measured preoperatively was reduced significantly in the temporal quadrant in PA patients compared with the control group (median (min; max); mean rank: 73.5 (52; 109); 58.39 vs. 69.5 (16; 168); 46.14; p = 0.038). We found that it was reduced significantly only in the inferior quadrant of the macro-PA group compared to the micro-PA group (median (min; max); mean rank: 99.5 (61; 115); 21.07 vs. 106.5 (90; 121); 32.15), p = 0.008, respectively). The RNFL thickness was reduced significantly only in the inferior quadrant of the non-active PA group compared to the active PA group (median (min; max); mean rank: 118.5 (49; 144); 17.42 vs. 130.5 (77; 156); 28.05), p = 0.028, respectively). RNFL thickness was reduced significantly only in the temporal quadrant in the PA with suprasellar extension group compared to the PA without suprasellar extension group (median (min; max); mean rank: 67.5 (16; 99); 21.66 vs. 72 (58; 168); 30.39), p = 0.036, respectively). Furthermore, GCL++ thickness was reduced significantly in total and in superior and inferior sectors of the PA with suprasellar extension group compared to the PA without suprasellar extension group (median (min; max); mean rank: 98.5 (57; 113); 21.8; 101 (61; 121); 21.48 and 102.5 (59; 116); 21.71 vs. 103.5 (95; 115); 30.2; 106.5 (90; 115); 30.61 and 104.5 (95; 113); 30.32), p = 0.043; p = 0.028 and p = 0.038, respectively). In the control group, significant positive correlations were found between optic disc area and the total RNFL thickness (r = 0.440, p < 0.001). In the PA group, significant correlations were observed between optic rim area and total RNFL thickness (r = 0.493, p < 0.001) and all quadrants, with the strongest in the nasal quadrant (r = 0.503, p < 0.001). A moderate to strong negative correlation was found between visual field (VF) defects and RNFL thickness, with the strongest correlation observed in the superior quadrant. Conclusions: OCT offers a detailed insight into the microscopic structural and functional changes throughout the entire visual pathway in patients with PA. Our findings demonstrate a significant negative correlation between RNFL thickness and visual field defects, highlighting the clinical relevance of OCT measurements in visual function assessment. Moreover, the results suggest that optic rim area may be a more reliable indicator of RNFL thickness variations than optic disc area in patients with PA. Full article

The study aimed to analyze hsa-miR-16-5p, hsa-miR-143-3p, hsa-miR-423-5p, hsa-miR-137-3p, hsa-miR-489-5p, hsa-miR-520-3p, hsa-miR-486-5p, and hsa-miR-200a-3p expression in the serum of patients with invasive non-functioning pituitary adenomas (NFPAs) and prolactinomas, as candidates for non-invasive biomarkers. The study included 62 patients with NFPAs and 18 with macroprolactinoma who qualified for transsphenoidal surgical resection. MicroRNAs were isolated from serum samples. The expression levels of hsa-miR-16-5p, hsa-miR-143-3p, hsa-miR-423-5p, hsa-miR-137-3p, hsa-miR-489-5p, hsa-miR-520-3p, hsa-miR-486-5p, and hsa-miR-200a-3p were determined using TaqMan MicroRNA assays. The statistical analyses were performed with MedCalc. The total concentration of microRNA was significantly lower in NFPAs than in the CG (p = 0.0419). ROC curve analysis showed that the cutoff point of miRNA lower than 10.73 predicted the PA (sensitivity = 70.0%; specificity = 57.7%; AUC = 0.629; p = 0.052). No correlation between selected miRNAs and tumor type was found: hsa-miR-143-3p (p = 0.4610), hsa-miR-16-5p (p = 0.8767), and hsa-miR-423-5p (p = 0.1459). miRNA expression also did not correlate with invasiveness (cavernous or sphenoid sinus invasion, optic chiasm compression). Although the total expression of microRNA was significantly lower in NFPAs, hsa-miR-16-5p, hsa-miR-143-3p, and hsa-miR-423-5p are not useful as non-invasive biomarkers in patients with invasive non-functioning pituitary adenomas and prolactinomas. Full article

Chronic fungal sinusitis (FS) can cause bone erosion and extend to the sellar region, often misdiagnosed as pituitary tumors or malignancies. We report a 56-year-old immunocompetent female with sphenoid FS presenting as a giant sellar mass compressing the optic chiasm, with normal pituitary function. The surgery successfully resolved her symptoms, and a histological examination confirmed the presence of a fungal hyphal mass. We conducted a literature review of 52 publications on FS cases with bone erosion and inflammatory extension to the sellar region, which included analyses of 67 patients (35 females, mean age 49.6 years, half immunocompetent). The most common symptom was headache (73.1%), followed by visual complaints (71.7%), visual deterioration (40.3%), ophthalmoplegia (38.8%), and visual field defects (13.4%). Symptom duration averaged 4.5 months in 65.7% of cases. Aspergillus was the most frequent (71.6%). Hormonal abnormalities included hypopituitarism (25.4%) and hyperprolactinemia (13.4%). Surgery was performed in 92.5% of patients. Common diagnoses included pituitary abscess (41.8%), fungal granuloma (16.4%), aspergillosis (16.4%) and allergic FS (14.9%). Antifungal therapy was administered in 53.7% of cases. Cure was achieved in 67.2%, while the mortality rate was 10.4%. Early recognition of fungal involvement, supported by a multidisciplinary approach, is essential for the accurate diagnosis and effective treatment. This highlights the need for vigilance to improve the outcomes in similar cases. Full article

Background: The current standard therapy for pediatric optic pathway/hypothalamic glioma (OPHG) is systemic anticancer therapy (SAT) over surgery and radiotherapy. Nevertheless, recurrent radiological or clinical tumor progression after SAT forms a considerable challenge. Sporadic OPHGs are considered to have a higher tendency toward progression after first-line systemic anticancer therapy (SAT) compared to neurofibromatosis type-1-associated (NF1) OPHGs. Methods: The objective of this study was to conduct a national retrospective cohort analysis of children who received various treatments for a progressive OPHG, involving the hypothalamus and/or chiasm and/or optic radiations. The study aimed to examine the differences in clinical course and the range of treatment modalities applied to both sporadic and NF1-associated OPHGs between 1995 and 2020. Additionally, we sought to identify risk factors for 3- and 5-year progression following first- and second-order SAT. Results: In total, 136 children received treatment, of whom 49 of 136 (36.0%) had NF1. Within a median of 7.5 years (range: 0.1–23.8 years) of follow-up, sporadic OPHGs received more treatments compared to NF1-associated OPHGs (median of 2 (range: 1–8) vs. median of 1 (range: 1–7) (p < 0.01)). Nine children with sporadic OPHGs (6.6%) died. Of 112 children (82.4%) receiving SAT, 92% received combined first-line vincristine and carboplatin. These children had a 3- and 5-year progression-free survival of 61.8% (95% CI: 51.0–72.6%) and 48.4% (95% CI: 38.0–58.8%), respectively. Sporadic OPHGs had a higher rate of second progression (p < 0.01). Starting first-line vincristine and carboplatin at an age below one year was the only independent risk factor for progression. Conclusions: In this national historic cohort of pediatric OPHGs, four out of five children received SAT. Sporadic OPHGs received a higher number of various SATs compared to NF1-associated OPHGs, but the sporadic appearance of OPHGs was not an independent risk factor for progression after combined vincristine and carboplatin, as ‘age below one year at the start’ was the only factor. Full article

Background/Objectives: Spindle cell oncocytomas (SCOs) of the pituitary gland are rare tumors often misdiagnosed for nonfunctioning pituitary macroadenomas. Although classified as grade 1, they are often challenging in terms of diagnosis and treatment. Pituitary SCOs harbor peculiar features such as hypervascularity and stronger adherence to surrounding structures, with increased risk of hemorrhage, partial resection, and significantly higher recurrence rate. Almost 100 cases have been reported so far. The role of surgery is still crucial for the decompression of the optic chiasm as well as for achieving diagnosis. However, given the higher tendency of recurrence, the role of postoperative radiotherapy has been investigated over the last few years. Case presentation: Here, we reported a case of a 48-year-old female with a pituitary SCO treated at our institution, in which we focused on diagnosis, treatment, and follow-up. Conclusions: This type of tumor presents a challenge related to its higher vascularity and strong adherence to the surrounding structures. Adjuvant radiotherapy is something that should be considered, especially when gross total resection is not achieved, and finally, SCOs require diligent follow-up to monitor for any signs of disease recurrence or progression. Full article

Background: optic nerve glioblastoma is an uncommon pathology. The optic chiasm, optic tract, or optic nerves are possible places from which the tumor can originate. Most of the neuroimaging findings are nonspecific. To confirm the diagnosis, a biopsy is required. A delay to the treatment plan for optic nerve glioblastoma results in poor patient survival rates. Case report: a 68-year-old woman with an uncomplicated medical history presented with exophthalmos, deteriorating eyesight, and partial loss of vision. Using radiological data together with postoperative histopathological and histochemical analysis, optic nerve glioblastoma, IDH-wildtype, with optic chiasm involvement was diagnosed. Conclusion: optic nerve glioblastoma is a rare and aggressive form of cancer that affects the optic nerve, leading to significant vision impairment and potentially life-threatening complications. Treatment options are restricted and difficult because of the location and nature of the condition; surgery, radiation therapy, and chemotherapy are frequently needed as part of a multidisciplinary approach. Full article

Background: Proton therapy requires caution when treating patients with targets near neural structures. Intuitive and quantitative guidelines are needed to support decision-making concerning the treatment modality. This study compared dosimetric profiles of intensity-modulated proton therapy (IMPT) and intensity-modulated radiation therapy (IMRT) using helical tomotherapy (HT) for adaptive re-planning in cT3-4 nasopharyngeal cancer (NPCa) patients, aiming to establish criteria for selecting appropriate treatment modalities. Methods: HT and IMPT plans were generated for 28 cT3-4 NPCa patients undergoing definitive radiotherapy. Dosimetric comparisons were performed for target coverage and high-priority organs at risk (OARs). The correlation between dosimetric parameters and RT modality selection was analyzed with the target OAR distances. Results: Target coverages were similar, while IMPT achieved better dose spillage. HT was more favorable for brainstem D₁, optic chiasm D_max, optic nerves D_max, and p-cord D₁. IMPT showed advantages for oral cavity D_mean. Actually, 14 IMPT and 14 HT plans were selected as adaptive plans, with IMPT allocated to most cT3 patients (92.9% vs. 42.9%, p = 0.013). The shortest distances from the target to neural structures were negatively correlated with OAR doses. Receiver operating characteristic curve analyses were carried out to discover the optimal cut-off values of the shortest distances between the target and the OARs (temporal lobes and brainstem), which were 0.75 cm (AUC = 0.908, specificity = 1.00) and 0.85 cm (AUC = 0.857, specificity = 0.929), respectively. Conclusions: NPCa patients with cT4 tumor or with the shortest distance between the target and critical neural structures < 0.8 cm were suboptimal candidates for IMPT adaptive re-planning. These criteria may improve resource utilization and clinical outcomes. Full article

Background: Although visual field (VF) defects are common in compressive pituitary adenoma (CPA), their pathophysiology has not been fully elucidated. The mechanical theory (i.e., direct compression of the optic chiasm by the CPA) and the vascular theory (i.e., compression of the vessels supplying the visual path by the CPA) or their association could explain the visual impairment. The aim of this study was to determine whether the vascular density (VD) improved after surgical decompression of the optic chiasm in CPA patients and whether OCT-A could help to identify predictive factors for postoperative visual recovery. Methods: A prospective controlled study was conducted in patients who underwent transsphenoidal pituitary adenoma surgery. Patients were divided into two groups: with CPA and without CPA (NCPA). All patients underwent a neuro-ophthalmological examination, VF testing, macular and optic disc structural OCT [retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) thicknesses] and OCT-A before and then 1 and 6 months after surgery. Results: Twenty-four eyes and fourteen eyes were included, respectively, in the CPA and NCPA groups. None of the VD parameters assessed by OCT-A were significantly improved after surgery in the CPA group. In the CPA group, the mean macular superficial VD was significantly decreased at 6 months. The multivariate analysis failed to identify any preoperative parameters predictive of postoperative VF improvement. Conclusions: Our preliminary findings suggest that the visual impairment observed in CPA patients could not be explained by the vascular theory. None of the preoperative OCT-A parameters allowed a postoperative VF recovery assessment. Trial registration number NCT04074642, ID-RCB 2019-A01186-51 date of registration 30 July 2019. Full article

Neurofibromatosis type 1 (NF1) is an inherited autosomal dominant disorder primarily affecting children and adolescents characterized by multisystemic clinical manifestations. Mutations in neurofibromin, the protein encoded by the Nf1 tumor suppressor gene, result in dysregulation of the RAS/MAPK pathway leading to uncontrolled cell growth and migration. Neurofibromin is highly expressed in several cell lineages including melanocytes, glial cells, neurons, and Schwann cells. Individuals with NF1 possess a genetic predisposition to central nervous system neoplasms, particularly gliomas affecting the visual pathway, known as optic pathway gliomas (OPGs). While OPGs are typically asymptomatic and benign, they can induce visual impairment in some patients. This review provides insight into the spectrum and visual outcomes of NF1, current diagnostic techniques and therapeutic interventions, and explores the influence of NF1-OPGS on visual abnormalities. We focus on recent advancements in preclinical animal models to elucidate the underlying mechanisms of NF1 pathology and therapies targeting NF1-OPGs. Overall, our review highlights the involvement of retinal ganglion cell dysfunction and degeneration in NF1 disease, and the need for further research to transform scientific laboratory discoveries to improved patient outcomes. Full article

We recently identified PKN1 as a developmentally active gatekeeper of the transcription factor neuronal differentiation-2 (NeuroD2) in several brain areas. Since NeuroD2 plays an important role in amacrine cell (AC) and retinal ganglion cell (RGC) type formation, we aimed to study the expression of NeuroD2 in the postnatal retina of WT and Pkn1^−/− animals, with a particular focus on these two cell types. We show that PKN1 is broadly expressed in the retina and that the gross retinal structure is not different between both genotypes. Postnatal retinal NeuroD2 levels were elevated upon Pkn1 knockout, with Pkn1^−/− retinae showing more NeuroD2⁺ cells in the lower portion of the inner nuclear layer. Accordingly, immunohistochemical analysis revealed an increased amount of AC in postnatal and adult Pkn1^−/− retinae. There were no differences in horizontal cell, bipolar cell, glial cell and RGC numbers, nor defective axon guidance to the optic chiasm or tract upon Pkn1 knockout. Interestingly, we did, however, see a specific reduction in SMI-32⁺ α-RGC in Pkn1^−/− retinae. These results suggest that PKN1 is important for retinal cell type formation and validate PKN1 for future studies focusing on AC and α-RGC specification and development. Full article

This study’s CT scan-based morphometric analysis of 50 adult dogs explored the relationship between skull shape variations (determined by the skull index, SI), optic chiasm, optic canals, and orbital shape. Dogs were classified as brachycephalic (SI ≥ 59), mesocephalic (SI ≥ 51 but <59), and dolichocephalic (SI < 51). No significant age or weight differences were observed. Skull lengths (brachycephalic: 11.39 ± 1.76 cm, mesocephalic: 15.00 ± 2.96 cm, dolichocephalic: 17.96 ± 3.44 cm) and facial lengths (brachycephalic: 3.63 ± 1.00 cm, mesocephalic: 6.46 ± 1.55 cm, dolichocephalic: 8.23 ± 1.03 cm) varied significantly, with shorter orbital depths (brachycephalic: 2.58 ± 0.42 cm, mesocephalic: 3.19 ± 0.65 cm, dolichocephalic: 3.61 ± 0.77 cm) in brachycephalic dogs. The optic chiasm-to-inion horizontal length ratio to cranial horizontal length positively correlated with the SI (r = 0.883, p < 0.001), while the ratio to neurocranial length showed no SI correlation (range: 55.5–75.0). Brachycephalic breeds had a significantly wider optic canal angle (93.74 ± 16.00°), along with broader lacrimal-zygomatic and zygomatic frontal process angles. These findings highlight the zygomatic bone’s role in influencing breed-specific orbital variations by connecting the face to the neurocranium, projecting the orbital rim outward and forward with facial shortening. Full article

Purpose: To evaluate the radiation effect of fractionated robotic radiotherapy of benign tumors located in the parasellar region on the anterior and posterior segments of the eye. Methods: A prospective observational study based on the expanded ophthalmological examination. The pre-treatment baseline was used as a control for the post-radiotherapy follow-up examinations. The study group consists of 34 patients (68 eyes) irradiated using the CyberKnife system. There were ten patients with cavernous sinus meningioma, nine with pituitary adenoma, five with meningioma of the anterior and middle cranial fossa, five with meningioma in the region close to optic chiasm, three with craniopharyngioma, and two with meningioma of the orbit. All patients were treated using three fractions of 600–800 cGy. We assessed the impact of radiation on the eye based on changes in anatomical and functional features. The condition of the eye surface, central corneal thickness (CCT), endothelial cell density (ECD), lens densitometry, central macular thickness (CMT), and retinal nerve fiber layer (RNFL) were the anatomical features assessed. The functional tests were best-corrected visual acuity (BCVA), intraocular pressure (IOP), visual field (VF) and visual-evoked potentials (VEP). An ophthalmologic examination was performed before and 6, 12, 18, and 24 months after radiotherapy. Results: We did not observe any significant changes in BCVA, IOP, CCT, CMT, VF, and VEP, nor in the slit-lamp examination during the two-years observation. We found a significant decrease in ECD at all follow-up measurements. The drop in ECD exceeded approximated age-related physiological loss. The reduction in ECD was not large enough to disrupt corneal function and thus affect vision. We also observed a statistically significant reduction of RNFL in all observation time points. However, there was no correlation between the dose delivered to the optic pathway and the decrease in RNFL thickness. The thinning of the RNFL was not significant enough to impair visual function. Conclusion: Fractionated robotic radiotherapy of the tumors located close to the optical pathway is safe and does not impair patient’s vision. Minor changes found in optic nerve anatomy (RNFL thinning) might be related to radiation effect or tumor compression. The causal relation between low doses of radiation delivered to the cornea and the observed significant but slight decrease in ECD is uncertain. The observed changes did not cause visual disturbances perceivable by the patients. Full article

Gangliogliomas are uncommon intracranial tumors that include neoplastic and abnormal ganglion cells, and show positive immunohistochemical staining for GFAP and syn. This type of lesion occurs more frequently in the temporal lobe than in other areas; they are extremely rare in the suprasellar region. To the best of our knowledge, including our case, 19 cases of GGs have been found in the suprasellar region. Among them, five tumors invaded the optic nerve, nine tumors invaded the optic chiasm, one tumor invaded the optic tract, and two tumors invaded the entire optic chiasmal hypothalamic pathway. In the present study, we describe the first case of suprasellar GGs arising from the third ventricle floor that was removed through the endoscopic endonasal approach. In addition, we summarize the clinical characteristics of GGs, such as age of onset, gender distribution, MRI signs, main clinical symptoms, and treatment methods for GG cases. Full article