scholarly journals Acquired Monocular Nystagmus as the Initial Presenting Sign of a Chiasmal Glioma

Author(s):  
Francois Dominique Jacob ◽  
Vijay Ramaswamy ◽  
Helly R. Goez

A 15-month-old male presented with a one-day history of acute onset, continuous oscillating movement of his right eye. He had received his one-year immunizations four days prior and had a four-day history of a febrile viral respiratory tract infection. Pregnancy was unremarkable. He had severe iron deficiency anemia (MCV 66, Hb 65) and was developmentally delayed, as he was unable to stand independently and was non-verbal. His head circumference was 49 cm (95th percentile) and his weight was at the 25th percentile. On physical examination, continuous horizontal large amplitude pendular nystagmus of the right eye at a frequency of 3-4 Hz was observed. No nystagmus was observed in the left eye, even on funduscopic examination. The child could fixate targets in all four quadrants with both eyes independently, and could fixate and track small objects with both eyes independently suggesting no significant visual field defect or visual loss. Dilated funduscopic examination was normal, extra ocular movements were full, pupils were equal and reactive and there was no relative afferent pupillary defect. The remainder of the neurological examination was normal. There was no head bobbing or anomalous head position and no stigmata of neurofibromatosis type 1. Magnetic resonance imaging of the brain (Figure) demonstrated a 2 cm x 1.6 cm x 1.2 cm suprasellar enhancing mass involving the optic chiasm, hypothalamus, mamillary bodies and superior pituitary stalk. There was no extension into the pituitary fossa or the optic nerves and no ventricular enlargement. A biopsy of the mass was obtained and revealed histology consistent with a low-grade pilocystic astrocytoma (World Health Organization (WHO) grade 1), consistent with a diagnosis of chiasmal glioma.

Neurosurgery ◽  
2017 ◽  
Vol 82 (6) ◽  
pp. 808-814 ◽  
Author(s):  
Toral Patel ◽  
Evan D Bander ◽  
Rachael A Venn ◽  
Tiffany Powell ◽  
Gustav Young-Min Cederquist ◽  
...  

Abstract BACKGROUND Maximizing extent of resection (EOR) improves outcomes in adults with World Health Organization (WHO) grade II low-grade gliomas (LGG). However, recent studies demonstrate that LGGs bearing a mutation in the isocitrate dehydrogenase 1 (IDH1) gene are a distinct molecular and clinical entity. It remains unclear whether maximizing EOR confers an equivalent clinical benefit in IDH mutated (mtIDH) and IDH wild-type (wtIDH) LGGs. OBJECTIVE To assess the impact of EOR on malignant progression-free survival (MPFS) and overall survival (OS) in mtIDH and wtIDH LGGs. METHODS We performed a retrospective review of 74 patients with WHO grade II gliomas and known IDH mutational status undergoing resection at a single institution. EOR was assessed with quantitative 3-dimensional volumetric analysis. The effect of predictor variables on MPFS and OS was analyzed with Cox regression models and the Kaplan–Meier method. RESULTS Fifty-two (70%) mtIDH patients and 22 (30%) wtIDH patients were included. Median preoperative tumor volume was 37.4 cm3; median EOR of 57.6% was achieved. Univariate Cox regression analysis confirmed EOR as a prognostic factor for the entire cohort. However, stratifying by IDH status demonstrates that greater EOR independently prolonged MPFS and OS for wtIDH patients (hazard ratio [HR] = 0.002 [95% confidence interval {CI} 0.000-0.074] and HR = 0.001 [95% CI 0.00-0.108], respectively), but not for mtIDH patients (HR = 0.84 [95% CI 0.17-4.13] and HR = 2.99 [95% CI 0.15-61.66], respectively). CONCLUSION Increasing EOR confers oncologic and survival benefits in IDH1 wtLGGs, but the impact on IDH1 mtLGGs requires further study.


2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S61-S61
Author(s):  
F Rajack ◽  
L Taddasse-Heath ◽  
T J Naab

Abstract Introduction/Objective Most cases of primary follicular lymphoma (FL) in the gastrointestinal tract occur in the second part of the duodenum, presenting with multiple small polyps. Duodenal type follicular lymphoma (D-FL) is a newly recognized entity in the 2016 WHO classification update. Methods Upper endoscopy in a 72 year old female with iron deficiency anemia revealed a single 8 mm sessile polyp with no bleeding in the duodenal bulb. Histology revealed dense infiltrate of small mature lymphocytes with a nodular growth pattern. Follicles, composed predominantly of centrocytes with scattered centroblasts, diffusely expressed CD20, CD10 and BCL-2. Results This immunoprofile characterizes follicular lymphoma. Real-time polymerase chain restriction assay detected BCL-2 MBR/JH DNA fusion sequence, usually resulting from t(14;18)(q32;q21) translocation and confirming D-FL. D- FL is often asymptomatic, discovered incidentally at endoscopy. It is usually low grade (grade 1–2), presenting at low stage, with immunophenotype and t(14;18)(q32;q21) similar to other FLs. However, in comparison to nodal FL, D-FL has higher selective use of V4 and V5 immunoglobulin heavy chain gene rearrangements, which has been linked to antigen dependent mechanisms in lymphoma development; this feature is shared with Mucosa-Associated Lymphoid Tissue (MALT) lymphoma. Conclusion D-FL often remains localized to the small bowel and has a good outcome even with local small bowel recurrences. It has a long term survival of >12 years. There is a low (<10%) risk of progression to nodal disease and given the indolent clinical course, a watch-and-wait approach is reasonable for most patients.


2020 ◽  
Vol 22 (9) ◽  
pp. 1388-1398 ◽  
Author(s):  
Veit M Stoecklein ◽  
Sophia Stoecklein ◽  
Franziska Galiè ◽  
Jianxun Ren ◽  
Michael Schmutzer ◽  
...  

Abstract Background Systemic infiltration of the brain by tumor cells is a hallmark of glioma pathogenesis which may cause disturbances in functional connectivity. We hypothesized that aggressive high-grade tumors cause more damage to functional connectivity than low-grade tumors. Methods We designed an imaging tool based on resting-state functional (f)MRI to individually quantify abnormality of functional connectivity and tested it in a prospective cohort of patients with newly diagnosed glioma. Results Thirty-four patients were analyzed (World Health Organization [WHO] grade II, n = 13; grade III, n = 6; grade IV, n = 15; mean age, 48.7 y). Connectivity abnormality could be observed not only in the lesioned brain area but also in the contralateral hemisphere with a close correlation between connectivity abnormality and aggressiveness of the tumor as indicated by WHO grade. Isocitrate dehydrogenase 1 (IDH1) mutation status was also associated with abnormal connectivity, with more alterations in IDH1 wildtype tumors independent of tumor size. Finally, deficits in neuropsychological performance were correlated with connectivity abnormality. Conclusion Here, we suggested an individually applicable resting-state fMRI marker in glioma patients. Analysis of the functional connectome using this marker revealed that abnormalities of functional connectivity could be detected not only adjacent to the visible lesion but also in distant brain tissue, even in the contralesional hemisphere. These changes were associated with tumor biology and cognitive function. The ability of our novel method to capture tumor effects in nonlesional brain suggests a potential clinical value for both individualizing and monitoring glioma therapy.


2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi158-vi158
Author(s):  
Kunzang Chosdol ◽  
Manvi Arora ◽  
Nargis Malik ◽  
Prerana Jha ◽  
Jyotsna Singh ◽  
...  

Abstract Glioblastoma (GBM, WHO grade-IV) being the most malignant and aggressive form of glioma remains a major clinical challenge, with an overall 5-year survival rate of only 9.8%. Till recently, glioma diagnosis and grading were solely dependent on the phenotypic and histological features. However, with the advancement in the understanding of the molecular biology of glioma several molecules have been identified. The importance of these molecular/genotypic features of the tumor became evident by the inclusion of these molecular features by World Health Organization (WHO) in 2016 in glioma sub-grouping. Our lab is focused on studying the role of FAT1 gene (human ortholog of Drosophila tumor suppressor gene, fat) in glioma biology and aggressiveness. We observed FAT1 gene to have an oncogenic role in glioma where it has been found to upregulate migration/invasion, inflammatory microenvironment of the tumors, HIF1α expression/activity in the tumor-cells under severe hypoxia and in regulating EMT/stemness properties of GBM-cells under hypoxia. Here, we have characterized the molecular relationship between FAT1 related molecules and known- molecular markers of glioma with the hope of identifying glioma subgroup with a molecular signature of clinical significance by (i) analyzing the expression correlation of FAT1 and FAT1 regulated pro-inflammatroy molecules like COX2, IL1b and IL6 with the known- molecular markers of glioma like p53, IDH1, MGMT, EGFR, TERT in low-grade (grade-II) and high-grade (grade-III/IV) gliomas (n=50) by real-time PCR, sequencing, immunohistochemistry and in-silico analysis of TCGA-GBM-data (ii) Analyzed the regulatory role of FAT1 on the above known markers by siRNA mediated knockdown of FAT1 in in-vitro cell-culture system and (iii) further analyzed the identified molecular signature for their correlation with the patients prognosis/survival in the follow up patients. We observed a novel molecular signature with significant correlation with patients’ clinical outcome. Therapeutic targetting of FAT1 may benefit patients with high FAT1 expressing tumors.


2020 ◽  
Vol 10 ◽  
Author(s):  
Weidong Tian ◽  
Jingdian Liu ◽  
Kai Zhao ◽  
Junwen Wang ◽  
Wei Jiang ◽  
...  

ObjectiveWHO grade III meningiomas are highly aggressive and lethal. However, there is a paucity of clinical information because of a low incidence rate, and little is known for prognostic factors. The aim of this work is to analyze clinical characteristics and prognosis in patients diagnosed as WHO grade III meningiomas.Methods36 patients with WHO grade III meningiomas were enrolled in this study. Data on gender, age, clinical presentation, preoperative Karnofsky Performance Status (KPS), histopathologic features, tumor size, location, radiologic findings, postoperative radiotherapy (RT), surgical treatment, and prognosis were retrospectively analyzed. Progression-free survival (PFS) and overall survival (OS) were evaluated using the Kaplan-Meier method. Univariate and multivariate analysis were conducted by the Cox regression model.ResultsMedian PFS is 20 months and median OS is 36 months in 36 patients with WHO grade III meningiomas. Patients with secondary tumors which transformed from low grade meningomas had lower PFS (p=0.0014) compared with primary group. Multivariate analysis revealed that tumors location (PFS, p=0.016; OS, p=0.013), Ki-67 index (PFS, p=0.004; OS, p<0.001) and postoperative radiotherapy (PFS, p=0.006; OS, p<0.001) were associated with prognosis.ConclusionWHO grade III meningiomas which progressed from low grade meningiomas were more prone to have recurrences or progression. Tumors location and Ki-67 index can be employed to predict patient outcomes. Adjuvant radiotherapy after surgery can significantly improve patient prognosis.


2021 ◽  
Author(s):  
Wenyu Peng ◽  
Shuo Chen ◽  
Dongsheng Kong ◽  
Xiaojie Zhou ◽  
Xiaoyun Lu ◽  
...  

Abstract BackgroundThe World Health Organization (WHO) grade diagnosis of cancer is essential for surgical outcomes and patient treatment. Traditional pathological grading diagnosis depends on dyes or other histological approaches, which are time-consuming (usually 1-2 days), resource-wasting, and labor-intensive. Fourier transform infrared (FTIR) spectroscopy is a rapid and nondestructive technique that has been widely used for detecting the molecular component changes, which relies on the resonant frequencies absorbance of the molecular bonds.MethodsTo overcome the disadvantages of traditional pathological diagnosis, this paper proposed a novel diagnostic method based on FTIR and artificial neural network (ANN). Firstly, the spectra of high- and low-grade human glioma that without dye were collected by FTIR spectrometer, then the raw data preprocessed with baseline correction and amide I (1649 cm-1) normalization before input into the input-layer of the ANN, after the nonlinear conversion of the neurons in the hidden-layers, the categories were presented in the output-layer. Corresponding to the decrease of the loss function, the weights of the net updated continuously, and finally, the optimized model has the power of prediction for new samples. ResultsAfter training on 6225 spectra sourced from 77 glioma patients, the ANN model reached the prediction accuracy, specificity and sensitivity evaluation metrics above 99%, which was much superior to the common classification method of principal component analysis-linear discriminate analysis (PCA-LDA) (the prediction accuracy, specificity and sensitivity are only 87%, 89% and 86%, respectively). Moreover, rather than the lipid range of 2800-3000 cm-1, the ANN learned the fingerprint characteristics of the infrared spectrum to classify the major histopathologic classes of human glioma. Especially, the diagnosis process of the novel method only requires several minutes. Compared to the traditional pathological diagnosis, the efficiency raises almost 500 times.ConclusionsThe infrared range of fingerprint is the major indicator for cancer progression, and the ANN-based diagnosis method can be streamlined, and create a complementary pathway that is independent of the traditional pathology laboratory.


2020 ◽  
Vol 11 ◽  
pp. 392
Author(s):  
Bashar Abuzayed ◽  
Khaled Alawneh ◽  
Majdi Al-Qawasmeh ◽  
Sohaib Al-Khatib ◽  
Marwa Barukba ◽  
...  

Background: Gangliogliomas are neoplasms containing both astrocytic and neuronal components. We present a case of gangliogliomas of the optic chiasm, which are extremely rare pathologies. Case Description: A 16-year-old female patient referred to our clinic with gradual deterioration of vision for the age of 1 year mostly in the right eye. Ophthalmic examination confirmed reduced visual acuity with only perception of light in the left eye. Brain magnetic resonance imaging showed a solid mass lesion involving the hypothalamus and the optic chiasm, which was hypointense on T1-weighted images, hyperintense on T2-WI, and marked homogenous contrast enhancement. The patient was operated and bulging of the optic chiasm and the site of lamina terminalis was seen. Subtotal resection of the tumor was achieved. Histopathological examination revealed ganglioglioma (WHO Grade I). Follow-up of the patient was for 3 years and 8 months with stable neurologic and radiologic findings. Conclusion: To the best of our knowledge, 20 cases, including ours, have been reported in the literature and a presurgical diagnosis of ganglioglioma is very infrequent with confused radiologically with low-grade pilocytic astrocytomas.


Author(s):  
Nisha Singla ◽  
Sarita Nibhoria ◽  
Kanwardeep Kaur Tiwana ◽  
Prince Gupta

Introduction: The ovaries are the primary female reproductive organs and endocrine glands. Ovarian carcinoma has often been called as the silent killer because the symptoms may develop so late that the chances of cure are very poor. According to World Health Organisation (WHO) ovarian tumours are classified based upon their most probable tissue of origin: surface epithelial (65%), germ cell (15%), sex cord-stromal (10%), metastases (5%) and miscellaneous. The malignant surface epithelial tumours are further classified by cell type into serous, mucinous, endometrioid, clear cell, brenner, seromucinous and undifferentiated carcinoma. The most widely used tumour marker in ovarian carcinoma is CA-125 which is considered as gold standard. Aim : To find the utility of serum CA-125 levels in histopathological variants of malignant surface epithelial tumours, degree of differentiation and their distribution according to clinical data pertaining to age, parity, history of use of oral contraceptive pills/ovulation inducing drugs and family history of carcinoma ovary/breast or colon. Materials and Methods: A prospective study (cohort study) was done at Guru Gobind Singh Medical College and Hospital, Faridkot over a period of 1.5 year (April 2017-oct 2018) on 50 ovarian masses which were diagnosed as ovarian carcinoma. Data was represented as frequencies and percentages for categorical variables and as means and standard deviations for continuous variables. Analysis was done using Statistical Package for Social Sciences (SPSS) v 20.0.0. Results: Serous carcinoma (80%) topped among all the histological variants. Serous high grade carcinoma was more common than serous low grade carcinoma. Maximum rise of serum CA-125 levels were seen in serous carcinoma. Among serous carcinomas, mean serum CA-125 levels were more in high grade serous carcinoma than low grade serous carcinoma and the results were statistically significant. conclusion: Serum CA-125 level is a great tool for diagnosis, follow-up and prognosis of ovarian carcinomas.


2021 ◽  
Vol 82 (03) ◽  
pp. e32-e35
Author(s):  
Elizabeth Gallo ◽  
Grzegorz Brzezicki ◽  
Raafat Makary ◽  
Gazanfar Rahmathulla ◽  
Dinesh Rao ◽  
...  

AbstractThe falx cerebelli is a small crescent fold of dura mater that is attached to the internal occipital crest and projects forward into the posterior cerebellar notch between the cerebellar hemispheres. We report a rare case of a 61-year-old female who presented with a 1-month history of headache and gait instability. Imaging findings were suggestive of a meningioma arising from the falx cerebelli. Complete surgical resection was achieved with a standard posterior fossa midline approach. Duraplasty was performed using animal allograft dura (Duraguard) and additional layers of oxidized cellulose preparation (Surgicel), fibrin sealant, and nonsuturable collagen matrix (Duragen) were utilized to reduce the risk of a cerebrospinal fluid leak. Pathology confirmed a World Health Organization (WHO) grade-I meningioma. Postoperatively, patient with asymptomatic thrombosis of the left transverse/sigmoid sinuses and later with a pseudomeningocele managed with a lumbar drain. To our knowledge, this is the second documented case in the literature. We discuss intraoperative nuances and unique aspects in the postoperative care and management of these patients.


2018 ◽  
Vol 6 (3) ◽  
pp. 203-208 ◽  
Author(s):  
Aya Haggiagi ◽  
Edward K Avila

Abstract Background Tumor-related epilepsy (TRE) is common in patients with low-grade oligodendrogliomas. TRE is difficult to control despite multiple antiepileptic drugs (AEDs) in up to 30% of patients. Chemotherapy has been used for treatment to avoid potential radiotherapy-related neurotoxicity. This study evaluates the effect of temozolomide on seizure frequency in a homogeneous group with World Health Organization (WHO) grade II oligodendrogliomas. Methods A retrospective analysis was conducted of adult patients with WHO grade II oligodendrogliomas and TRE followed at Memorial Sloan Kettering between 2005 and 2015 who were treated with temozolomide alone either as initial treatment or for disease progression. All had seizures 3 months prior to starting temozolomide. Seizure frequency was reviewed every 2 cycles and at the end of temozolomide treatment. Seizure reduction of ≥50% compared to baseline was defined as improvement. Results Thirty-nine individuals met inclusion criteria. Median follow-up since starting temozolomide was 6 years (0.8-13 years). Reduction in seizure frequency occurred in 35 patients (89.7%). Improvement was independent of AED regimen adjustments or prior antitumor treatment in 16 (41%); of these, AED dosage was successfully reduced or completely eliminated in 10 (25.6%). Twenty-five patients (64.1%) remained on a stable AED regimen. The majority (n = 32, 82%) had radiographically stable disease, 5 (12.8%) had objective radiographic response, and 2 (5.2%) had disease progression. Conclusions Temozolomide may result in reduced seizure frequency, and permit discontinuation of AEDs in patients with WHO II oligodendroglioma. Improvement was observed irrespective of objective tumor response on MRI, emphasizing the importance of incorporating seizure control in assessing response to tumor-directed therapy.


Sign in / Sign up

Export Citation Format

Share Document