Optic Pathway Gliomas In Children Research Articles

Characteristics of primary ocular symptoms in children with optic pathway glioma at different ages

Objective: To investigate the characteristics of initial ocular symptoms in children with optic pathway glioma (OPG) at different age stages. Methods: A retrospective case series study was conducted. Clinical data of 16 children with OPG who were diagnosed and treated in the Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University from April 2017 to July 2021 were collected. The initial ocular symptoms, clinical manifestations of the eyes and nervous system, imaging and histopathological features were analyzed, and the differences in initial ocular symptoms between infants and young children aged≤36 months and older children aged>36 months were compared. Results: Of all 16 children included, 9 were male and 7 were female. The onset age was 15.0 (6.3, 56.5) months, and the diagnosis age was 48.0 (11.3, 78.0) months. There were 11 infants and young children, and 5 older children. Eye symptoms were the initial manifestation in 11 cases, including 8 cases of infants and young children (5 cases presented with irregular nystagmus, 2 cases with strabismus, and 1 case with failure to chase visual target), and 3 cases of older children (2 cases presented with decreased vision and 1 case with optic disc edema). The imaging findings showed that optic chiasm-involved OPG accounted for the highest proportion, with 3 cases in older children and 8 cases in infants and young children. Among the 8 children with optic chiasm-involved OPG who underwent surgical treatment, 5 were diagnosed with pilocytic astrocytoma according to histopathological results. Seven children had useful vision saved after treatment, and 1 child had visual loss accompanied by cognitive impairment due to surgery after 4 years of nystagmus. Conclusion: OPG in children often manifests as initial ocular symptoms, with irregular nystagmus being more common in infants and young children, and vision loss being the main symptom in older children.

The Utility of Early Brain MRI for Patients with Neurofibromatosis Type 1 and Optic Pathway Glioma: A Long-Term Follow-Up in a Tertiary Referral Hospital.

Screening studies have shown detection of optic pathway gliomas (OPGs) in 8 to 31% of children with neurofibromatosis type 1 (NF1). Many of those affected show prolonged indolent phases, but others develop vision disturbances even before diagnosis and treatment. We assessed the clinical presentation at diagnosis, location, natural progression, and risk factors for impaired vision of OPG. The clinical database of the NF1 multidisciplinary clinic of Schneider Children's Medical Center of Israel was reviewed for all patients diagnosed and followed with NF1 during 2007 to 2019. OPG was diagnosed by hyperintensity and thickening along the optic pathway on T2-weighted brain magnetic resonance imaging (MRI), with or without contrast enhancement. Of 257 children with NF1 who underwent MRI, 57 (22%) were diagnosed with OPG; 31 (54%) were females. Twenty-five (44%) had familial NF1. Fifteen (26%) who exhibited tumor progression and worsening in ophthalmic examinations required treatment. Post-chiasmatic glioma was a predictive factor for treatment (p < 0.05), whereas MRI done later and female gender were not significant. Four patients who eventually needed therapy had normal ophthalmic examinations at least 1 year prior to their first MRI. For 6 (40%) of the patients treated, vision continued to worsen. Our findings demonstrate that normal ophthalmic examinations do not always exclude OPG in children with NF1. Early brain MRI before age 36 months may detect OPG, lead to better follow-up and early treatment, and help improve vision outcome.

LINC-04. Optic pathway gliomas in children: an 18-year experience in a middle-income country

Abstract BACKGROUND: Optic pathway gliomas (OPGs) have favorable survival outcomes, but can have significant morbidity, from the tumor or from its treatment. This retrospective study sought to describe the clinical presentation and outcomes of children with OPGs at a tertiary center in a middle-income country. METHODS: Patients younger than 18 years diagnosed with OPGs between 2002-2020 at the Hospital Civil de Guadalajara in Mexico, were included. Survival analyses and logistic regression were used to determine risk factors for progression. RESULTS: Thirty patients were identified with a median age of six years. Common clinical characteristics at presentation included: visual accuracy impairment (40%), headache (23.3%), nystagmus (20%), endocrine disturbances (16.6%), and diencephalic syndrome (13%). Neurofibromatosis-1 was present in 23.3% of the patients. Eight patients underwent resection at diagnosis, 7 of them had secondary complications. One died during surgery due to catecholamine-resistant shock, and the other developed neuro-infection and died due to septic shock after surgery. Five children developed neurological or endocrine sequelae. Fifteen total patients received chemotherapy as their first line treatment. The 5-year progression-free survival was 77.9±10% and overall survival was 89.5±5%. Patients who received chemotherapy or targeted therapy as the first line of treatment had higher PFS compared to those who received other therapies (p=0.03). The patients who received surgery as first-line treatment had a 3.1 times greater risk of achieving a Lansky/Karnofsky score of fewer than 90 points 6 months after diagnosis (p=0.006). Ten patients had pre- and post-treatment ophthalmologic assessment, either visual acuity or visual evoqued potentials. Five had no changes and 5 showed improvement after treatment. CONCLUSIONS: These results show inferior outcomes compared to high-income countries, influenced importantly due to morbidity after surgical resection. These data can be used to prospectively optimize treatment at our institute and other middle-income countries through a multidisciplinary neuro-oncology team.

Optic pathway gliomas in children: Demographic, clinical characteristics, and results of an adapted protocol.

e22016 Background: Optic pathway gliomas (OPG) constitute 1-5% of childhood brain tumors. The presence of neurofibromatosis type 1 (NF-1) is generally associated with more indolent disease. The aim of this study is to evaluate patients with optic pathway gliomas diagnosed/treated/ followed in a single center over 32 years. Methods: The medical files of 85 patients with OPG diagnosed/treated between 1990-2021 in the Istanbul University, Oncology Institute were retrospectively assessed for demographic, clinical characteristics, treatment and outcome. Results: The median age of the 85 patients (42 male, 43 female) was 60 (1-216) months, 53 (62.4%) had NF-1. Seven had diencephalic syndrome (8.2%). According to Dodge classification, 23 (27.1%) had Dodge 1, 30 (35.3%) Dodge 2 and 32 (37.6%) Dodge 3 disease. Median follow up time was 10.5 years (1-31 years). Twenty (23.5%) patients had stable disease and were followed without treatment, 14 patients underwent surgery (5 gross total tumor resection, 2 subtotal resection, 3 ventriculoperitoneal shunt operation, 4 excision/biopsy). 7 patients recieved radiotherapy (RT), none had NF1. 56 patients received chemotherapy (CT) due to severe/progressive clinical symptoms (such as diencephalic syndrome, visual impairment, nystagmus) or radiologic progressive disease. Chemotherapy consisted of an adapted SIOP-LGG regimen: vincristine (VCR) 1.5 mg/m²/dose and carboplatinum 550 mg/m²/dose every 21 days for three courses with weekly VCR, followed by VCR and carboplatinum every 28 days for a total of 12 cycles (3 cycles induction, 9 cycles consolidation). Vinblastin or cisplatinum with etoposide were used for second line or further treatment in progressive disease. One of the seven patients who had diencephalic syndrome and two of the 3 patients with leptomeningeal metastasis died. Ocular findings were recorded in 47 patients: vision was stable in 30 (63.8%), improved in 15 (31.9%), detoriated in 2 (4.3%). Radiology (MRI) revealed stable disease/regression of tumor in 41 patients, and complete regression of spinal metastasis in 1 patient. Endocrinologic follow-up was done and 13(15.2%) recieved hormonal treatment. Ten year overall survival(S) in all patients, in patients with NF1 and without NF1 were 96.5%, 96.1% and 95%, respectively; 10 year event free survival (EFS) in all patients, in patients with NF1 and without NF1 were 80.6%, 90.5% and 60% (p:0.001) respectively. Conclusions: OPG may remain indolent for many years after diagnosis, especially in patients with NF 1. However, these tumors develop progressive characteristics and can cause visual disturbances, endocrine dysfunction, blindness and even death among some of the patients. In young children who are symptomatic/have progressive disease, chemotherapy with an adapted regimen consisting of vincristine and carboplatinum seems to be effective and provides a relatively good quality of life.

Optic Pathway Glioma in Children with Neurofibromatosis Type 1: A Multidisciplinary Entity, Posing Dilemmas in Diagnosis and Management Multidisciplinary Management of Optic Pathway Glioma in Children with Neurofibromatosis Type 1.

IntroductionNeurofibromatosis type 1 (NF1) has an incidence of 1 in 2,000 to 3,000 individuals and in 15% is associated with optic pathway glioma (OPG). Given the variability in clinical presentation and related morbidity, a multidisciplinary approach for diagnosis and management of children with NF1 and OPG is required, but often lacks coordination and regular information exchange. Herein we summarize our experience and describe the care pathways/network provided by a multidisciplinary team. The role of the distinct team members is elucidated as well as the care amendments made over time.MethodsWe performed a retrospective single-center observational study, including children treated at our institution between 1990 and 2021. Inclusion criteria were clinical diagnosis of NF1, radiographic and/or histopathological diagnosis of OPG and age below 18 years. Patients being treated elsewhere were excluded from the study. Data was abstracted from each child’s health record using a standardized data collection form. Characteristics of children with NF1 and OPG were described using means (SD) and percentages. Outcomes were determined using Kaplan-Meier estimates.ResultsFrom 1990 to 2021, 1,337 children were followed in our institution. Of those, 195 were diagnosed with OPG (14.6%), including 94 (48.21%) females and 101 (51.79%) males. Comprehensive data were available in 150 patients. The mean (SD) age at diagnosis was 5.31(4.08) years (range: 0.8–17.04 years). Sixty-two (41.3%) patients remained stable and did not undergo treatment, whereas 88 (58.7%) patients required at least one treatment. The mean (SD) duration of follow up was 8.14 (5.46) years (range: 0.1–25.9 years; median 6.8 years). Overall survival was of 23.6 years (±1.08), comprising 5 deaths. A dedicated NF clinic, including pediatricians and a nurse, provides regular follow up and plays a central role in the management of children with NF1, identifying those at risk of OPG, coordinating referrals to Neuroradiology and other specialists as indicated. All children are assessed annually by Ophthalmology. Comprehensive care was provided by a multidisciplinary team consisting of Dermatology, Genetics, Neuro-oncology, Neuroradiology, Neurosurgery, Ophthalmology and Pediatrics.ConclusionsThe care of children with NF1 and OPG is optimized with a multidisciplinary team approach, coordinated by a central specialty clinic.

Endoscopic ultrasonic aspiration as alternative to more invasive surgery in initial management of optic pathway gliomas in children.

Optic pathway gliomas (OPGs) presenting with acute hydrocephalus represent a true neurosurgical and neurooncological challenge. Two main strategies are currently used: microsurgical removal of the tumor, restoring CSF pathways, and endoscopic biopsy associated with ventriculo-peritoneal shunt implantation. Since the availability of an ultrasonic aspirator handpiece, that can be used inside the working channel of a neuroendoscope, a different less invasive surgical strategy can be used. Four pediatric patients were treated by endoscopic ultrasonic aspiration, in order to remove the upper pole of the tumor, obtaining tissue for diagnosis and restoring CSF pathways as initial treatment of OPG invading the third ventricle and causing hydrocephalus due to simultaneous blockage of both Monro foramina and of the Sylvian aqueduct. Surgical technique is described. Pre-operative and post-operative volumes were calculated on magnetic resonance imaging. In all cases, the surgical procedure was uneventful, the biopsy was diagnostic, and CSF pathways were restored. The amount of tumor removed ranged between 31 and 76%. All patients underwent oncological treatment of their tumors. One patient received V-P shunt only 1year after endoscopic decompression due to tumor progression. Our preliminary results show that the use of endoscopic cavitron aspirator is safe and effective to obtain CSF flow restoration and tumor biopsy (for histological and molecular purposes), avoiding CSF shunt implant in the acute phase and offering the chance to obtain a consistent tumor debulking in a minimally invasive fashion. Neuroendoscopic approach together with modern target therapy offers the opportunity to avoid or delay major surgery.

Surgical Management of Pre-Chiasmatic Intraorbital Optic Nerve Gliomas in Children after Loss of Visual Function-Resection from Bulbus to Chiasm.

Optic pathway gliomas in children carry significant morbidity and therapeutic challenges. For the subgroup of pre-chiasmatic gliomas, intraorbital and intradural resection is a curative option after blindness. We present a two-center cohort using different surgical approaches. A retrospective analysis was performed, including 10 children. Mean age at surgery was 6.8 years. Interval between diagnosis and surgery was 1–74 (mean 24 ± 5.5, median 10) months. Indications for surgery were exophthalmos, pain, tumor progression, or a combination. Eight patients underwent an extradural trans-orbital-roof approach to resect the intra-orbital tumor, including the optic canal part plus intradural pre-chiasmatic resection. Gross total resection was achieved in 7/8, and none had a recurrence. One residual behind the bulbus showed progression, treated by chemotherapy. In two patients, a combined supra-orbital mini-craniotomy plus orbital frame osteotomy was used for intraorbital tumor resection + intradural pre-chiasmatic dissection. In these two patients, remnants of the optic nerve within the optic canal remained stable. No patient had a chiasmatic functional affection nor permanent oculomotor deficits. In selected patients, a surgical resection from bulb to chiasm ± removal of optic canal tumor was safe without long-term sequela and with an excellent cosmetic result. Surgery normalizes exophthalmos and provides an effective tumor control.

Risk factors for treatment-refractory and relapsed optic pathway glioma in children with neurofibromatosis type 1.

Nearly one-third of patients with neurofibromatosis type 1-associated optic pathway glioma (NF1-OPG) fail frontline chemotherapy; however, little is known about risk factors for treatment failure. We performed a retrospective multi-institutional cohort study to identify baseline risk factors for treatment-refractory/relapsed disease and poor visual outcome in children with NF1-OPG. Refractory/relapsed NF1-OPG was defined as a requirement of two or more treatment regimens due to progression or relapse. Of 111 subjects eligible for inclusion, adequate clinical and visual data were available for 103 subjects from 7 institutions. Median follow-up from the initiation of first chemotherapy regimen was 95 months (range 13-185). Eighty-four (82%) subjects received carboplatin-based frontline chemotherapy. Forty-five subjects (44%) experienced refractory/relapsed disease, with a median time of 21.5 months (range 2-149) from the initiation of first treatment to the start of second treatment. The proportion of patients without refractory/relapsed disease at 2 and 5 years was 78% and 60%. In multivariable analyses, age less than 24 months at initial treatment, posterior tumor location, and familial inheritance were associated with refractory/relapsed NF1-OPG by 2 years. Both age less than 24 months and posterior tumor location were associated with refractory/relapsed NF1-OPG by 5 years. Subjects with moderate to severe vision loss at last follow-up were more likely to have posterior tumor location, optic disc abnormalities, or abnormal visual acuity at initial treatment. Young age, posterior tumor location, and optic disc abnormalities may identify patients with the greatest likelihood of refractory/relapsed NF1-OPG and poor visual outcomes, and who may benefit from newer treatment strategies.

Treatment and outcomes of optic pathway gliomas in children: A single institution experience

Treatment and outcomes of optic pathway gliomas in children: A single institution experience

Visual Outcomes of Optic Pathway Glioma Treated With Chemotherapy in Neurofibromatosis Type 1.

To analyze the visual outcomes following chemotherapy for optic pathway glioma in children with neurofibromatosis type 1. This was a retrospective cohort study of 58 children with optic pathway glioma between 2003 and 2019. Best corrected visual acuity (BCVA) at diagnosis and at the last follow-up visit were analyzed. Correlation tests were performed to determine whether the final BCVA was predicted by the initial BCVA, initial Dodge stage, or retinal nerve fiber layer (RNFL) thickness stability. The first-line chemotherapy regimen included vincristine plus carboplatin (2003 to 2016) and vinblastine (since 2017). Twenty-four children (41%) received chemotherapy. The median age at diagnosis was 3 years, and 61% of the children were female. From the first visit to the last follow-up visit, there was a statistically significant difference in mean BCVA in eyes in the no treatment group (P = .034) but not in eyes in the chemotherapy group (P = .824). A moderate and weak positive correlation was found (r = 0.58 and r = 0.29, respectively). At the last follow-up visit, BCVA remained stable in 73% and improved in 27% of eyes in the no treatment group, and BCVA worsened in 25%, remained stable in 62%, and improved in 13% of eyes in the chemotherapy group. At the last follow-up visit, BCVA and Dodge stage had a weak negative correlation (r = -0.06 and r = -0.17, respectively). A negative moderate correlation was identified between RNFL thickness and BCVA at the last follow-up visit (r = -0.48 in the no treatment group and r = -0.46 in the chemotherapy group). Children treated with chemotherapy had worse BCVA, although the treatment arrested the decline or improved BCVA in 75% of the patients with no major side effects. [J Pediatr Ophthalmol Strabismus. 2022;59(2):128-135.].

Neurofibromatosis Type 1-Associated Optic Pathway Glioma in Children: A Follow-Up of 10 Years or More

This study reports on neurofibromatosis type 1 (NF1)-associated optic pathway gliomas (OPGs) and a follow-up period of at least 10 years in a cohort of children. OPGs are a common manifestation of NF1 and can cause significant visual morbidity. Long-term follow-up in children with NF1-associated OPGs has not been reported previously. Retrospective observational case series. This study included children with a documented follow-up of at least 10 years. Three final outcomes were evaluated: visual acuity (VA) per eye (i.e., in the more severely affected eye), VA per patient (i.e., VA when both eyes were open), and the presence of optic nerve head pallor. A total of 45 children were included, followed for a mean of 14 years (range, 10-21 years). At the end of follow-up, abnormal VA (considered moderate to severe impairment) in the more severely affected eye was present in 36% of the patients and in both eyes in 11%. Optic nerve head pallor of 1 or both nerves was present in 62%. In multivariate analysis, only initial VA and optic nerve head appearance at presentation were found to predict the final outcomes. All patients, except for 1, were asymptomatic at presentation and had normal VA and nerves that appeared normal, preserved their good vision in both eyes. Only 1 patient, who had normal VA and normal appearing nerves at presentation, had moderate to severe VA loss at long term follow-up. In this study, children with NF1-associated OPG whose examination signs and symptoms were normal had a normal initial examination and excellent long-term visual and anatomical outcomes. VA and the appearance of the optic nerve head at presentation predict long-term outcome.

Treatment outcome of optic pathway glioma in children with diencephalon syndrome

Objective To explore the clinical treatment outcomes of the optic pathway glioma in children with diencephalic syndrome. Methods The clinical data of 8 cases of optic pathway glioma with diencephalic syndrome were analyzed retrospectively who were admitted to Department of Neurosurgery, Beijing Children′s Hospital, Capital Medical University from July 2015 to December 2018. The range of the children′s ages was from 8.0 to 42.2 months. No weight gain was reported in all those patients before the age of 1 year, and they showed a cachexia state of extreme emaciation at admission. The range of children′s preoperative weights was from 5.5 to 11.5 kg. The weight-for-age Z score was lower than -2 in all 8 patients who underwent microsurgical resection of tumor followed by chemotherapy post operation. Results Among the 8 cases of optic pathway glioma combined with diencephalic syndrome, subtotal resection was achieved in 7 cases, near-total resection in 1, and there was no death related to operation. Postoperative pathological examination confirmed 2 cases of pilocytic astrocytoma and 6 cases of pilomyxoid astrocytoma. The range of follow-up period of 8 children was from 1 to 18 months, the range of postoperative weight was from 8.0 to 20.0 kg, the weight of all patients increased to various degrees, and some of the patients′ clinical symptoms were alleviated. One patient died after discharge, and chemotherapy was applied to the rest of 7 patients. Residual tumor shrank in 4 patients, progressed in 2 and disseminated in 1. Conclusions Subtotal tumor resection in children with optic pathway gliomas and diencephalic syndrome could significantly improve the symptom of emaciation and alleviate some other symptoms. There seems to be great variability in the tumor sensitivity to postoperative chemotherapy. Key words: Glioma; Child; Optic pathway glioma; Diencephalic syndrome; Treatment outcome

Role of visual evoked potentials and optical coherence tomography in the screening for optic pathway gliomas in patients with neurofibromatosis type I.

The purpose of the present study was to compare visual function assessment, visual evoked potential, and optical coherence tomography with measurement of retinal nerve fiber layer thickness for the diagnosis of optic pathway glioma in children with neurofibromatosis type 1. This retrospective observational study included patients with neurofibromatosis type 1 who underwent brain magnetic resonance imaging scan, visual evoked potential study, and peripapillary retinal nerve fiber layer evaluation by optical coherence tomography. Patients were tested with pattern-reversal visual evoked potential and with flash visual evoked potential in case of poor cooperation. Optical coherence tomography was performed with HRA Spectralis (Heidelberg Engineering, Heidelberg, Germany). The area under the curve of receiver operating characteristic curves was used to evaluate the accuracy of each parameter for diagnosing optic pathway glioma. In all, 110 patients with neurofibromatosis type 1 were included in the study. Fifty of them had an optic pathway glioma diagnosed with magnetic resonance imaging, while 60 did not. Global retinal nerve fiber layer thickness demonstrated the highest diagnostic power for discriminating patients with and without optic pathway glioma (area under the curve = 0.758, sensitivity = 65.3%, specificity = 83.3%), followed visual acuity (area under the curve = 0.723, sensitivity = 51.1%, specificity = 91.7%) and P100 of visual evoked potential (area under the curve = 0.712, sensitivity = 69.6%, specificity = 63.8%). The results of the present study showed that the measurement of retinal nerve fiber layer thickness was the most efficient test for discriminating patients with and without optic pathway glioma. Brain magnetic resonance imaging remains the gold standard to confirm the diagnosis of optic pathway glioma. Longitudinal studies are required to define if the early detection of tumors with optical coherence tomography could prevent vision loss and morbidity.

NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentation.

BackgroundPediatric neurofibromatosis type 1 (NF1)–associated optic pathway gliomas (OPGs) exhibit different clinico-radiological features, treatment, and outcome compared with sporadic OPGs. While NF1-associated OPGs are caused by complete loss-of-function of the NF1 gene, other genetic alterations of the RAS-MAPK pathway are frequently described in the sporadic cases. We identified a group of patients who presented OPGs with typical radiological features of NF1-associated OPGs but without the NF1 diagnostic criteria. We aim to investigate into the possible molecular mechanisms underlying this “NF1-like” pediatric OPGs presentation.MethodsWe analyzed clinico-radiological features of 16 children with NF1-like OPGs and without NF1 diagnostic criteria. We performed targeted sequencing of the NF1 gene in constitutional samples (n = 16). The RAS-MAPK pathway major genes were sequenced in OPG tumor samples (n = 11); BRAF FISH and IHC analyses were also performed.ResultsIn one patient’s blood and tumor samples, we identified a NF1 nonsense mutation (exon 50: c.7285C>T, p.Arg2429*) with ~8% and ~70% VAFs, respectively, suggesting a mosaic NF1 mutation limited to the brain (segmental NF1). This patient presented signs of neurodevelopmental disorder. We identified a somatic alteration of the RAS-MAPK pathway in eight tumors: four BRAF activating p.Val600Glu mutations, three BRAF:KIAA oncogenic fusions, and one putative gain-of-function complex KRAS indel inframe mutation.ConclusionsNF1-like OPGs can rarely be associated with mosaic NF1 that needs specific constitutional DNA analyses for diagnosis. Further studies are warranted to explore unknown predisposition condition leading to the NF1-like OPG presentation, particularly in patients with the association of a neurodevelopmental disorder.

Optic pathway gliomas in children: prognostic factors, response assessment, role of carboplatin and vincristine chemotherapy regime

Low grade gliomas (LGG) constitute 35-40% of all primary central nervous system (CNS) tumors in children, at least 10-12% of them affecting the optic pathway. The complexity of the localization and predominantly the diffuse type of growth of these tumors make the neurosurgical treatment not appropriate in most cases, which requires conservative treatment. Objective: to analyze the results of carboplatin and vincristine chemotherapy (CT) regime in children with optic pathway gliomas (OPG). The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology. In the study was included patients registered at the Burdenko Neurosurgery Institute from January 1, 2003 till December 31, 2015 with optic pathway glioma from 0 to 18 years old that were treated with combined carboplatin and vincristine chemotherapy. All patients were divided into 2 groups: the first group included patients who had newly diagnosed OPG (group 1), the second group included patients with OPG with radiological progression following observation times (group 2). Evaluation of the response to treatment was carried out on the 24th week and after completion of treatment by delineation of each slice of the MRI images in OsiriX MD software (© Pixmeo Sari, Switzerland) with subsequent automatic volume calculation. Results: 104 patients were included in the analysis. 69 children were included to group 1, 35 patients in group 2. 60% of patients were boys, about a third of children were less than 18 months old, 17% of patients had Neurofibromatosis type I, 24% of patients had diencephalic cachexia. A biopsy of the tumor was performed in 76% of the patients, 54% of the patients had a piloid astrocytoma and 23% had a pilomixoid astrocytoma. The progression after the start of the chemotherapy was in 30 (28.9%) patients. 5-year event free survival (EFS) and overall survival (OS) were 58 ± 6% and 97 ± 2%, respectively. 5-year EFS was not statistically significantly different in patients of groups 1 and 2. According to our data, the age, histology of the tumor, the response to the 24th week of CT are independent prognostic factors.

Diagnostic performance of an unenhanced MRI exam for tumor follow-up of the optic pathway gliomas in children.

Contrast-enhanced MRI (MRI + C) is considered as mandatory for brain tumors follow-up, but gadolinium brain depositions in relation with repeated injections have been reported. The aim of our work was to evaluate the diagnostic performance of an unenhanced MRI examination for the follow-up of optic pathway gliomas (OPG) in children. Seventeen patients (with/without NF1) were selected from 2001 to 2017, with at least 5 MRI + C brain follow-up examinations. Privacy and data protection rights were addressed by the data protection officer (DPO) and the study was in accordance with the local ethical rules. Twenty-five cases of tumor progression and 25 cases of tumor stability mentioned in the conclusion of radiological reports (defined as gold standard) were isolated. Those exams were anonymized and independently reviewed by two radiologists, who analyzed both quantitative (such as tumor volume variation) and qualitative criteria (such as ventricular dilatation) on unenhanced images. Sensitivity, specificity, positive/negative predictive values (PPV, NPV), and inter/intra-observer agreement were calculated. The mean age of patients was 5.4 ± 3.4years and mean follow-up length 6.7years. The mean number of MRI + C was 13.5 (SD 7.2). The sensitivity of unenhanced MRI for tumor follow-up was 84-88% (95% CI 63.9-97.5). The specificity was 91.3-100% (95% CI 72-100). The PPV was 91.7% for reader 1 and 100% for reader 2. The NVP was 87.5% for reader 1 and 85.2% for reader 2. There was an excellent inter-observer agreement regarding tumor progression: kappa coefficient of 0.87 (p < 0.001). Inter/intra-variability for percentage of tumor volume variation between two exams were good (correlation coefficients of 0.97 and 0.94). Tumor volume variation is in most cases sufficient to assess OPG progression. Systematic MRI + C could be questionable.

Prevalence of Strabismus Among Children With Neurofibromatosis Type 1 Disease With and Without Optic Pathway Glioma.

To evaluate the prevalence of strabismus in neurofibromatosis type 1 (NF-1) by comparing children with normal neuroimaging to those with optic pathway glioma. A retrospective data collection of all children with NF-1 with neuroimaging studies examined at a single medical center between 2000 and 2016. Of the 198 children with NF-1 reviewed, 109 (55%) were male, 121 (61%) had normal neuroimaging, and 77 (39%) had an optic pathway glioma. Mean age at presentation was 6.3 ± 4.7 years and mean follow-up was 4.8 ± 3.1 years. Strabismus was present in 29 (15%) children and was significantly more prevalent in children with NF-1 with optic pathway glioma (21 of 77 [27%]) than in those with normal neuroimaging (8 of 121 [7%], P < .001). Sensory strabismus was only found in children with optic pathway glioma, accounting for most cases (12 of 21 [57%]). A strong association between strabismus and optic pathway glioma is demonstrated by an odds ratio of 5.29 (P < .001). Children with NF-1 with optic pathway glioma have a 4.13 times higher relative risk of developing strabismus than children with NF-1 without it (P = .001). The direction of ocular misalignment in children with NF-1 with optic pathway glioma was not significantly different than that observed in children without optic pathway glioma (P = .197, Fisher's exact test). Only 5 (17%) children with NF-1 with strabismus (3 with optic pathway glioma) underwent corrective surgery to align their eyes. Optic pathway glioma in children with NF-1 is associated with an increased risk of strabismus that is often sensory. Although exotropia is the most common ocular misalignment associated with optic pathway glioma, the direction of strabismus cannot be used as an accurate predictor for its presence. [J Pediatr Ophthalmol Strabismus. 2019;56(1):19-22.].

Visual outcomes after chemotherapy for optic pathway glioma in children with and without neurofibromatosis type 1: results of the International Society of Paediatric Oncology (SIOP) Low-Grade Glioma 2004 trial United Kingdom (UK) cohort

To report visual acuity (VA) outcomes following chemotherapy for optic pathway glioma (OPG) in children with or without neurofibromatosis type-1 (NF1) and to analyse associated risk factors.

Visual outcomes after chemotherapy for optic pathway glioma in children with and without neurofibromatosis type 1: results of the International Society of Paediatric Oncology (SIOP) Low-Grade Glioma 2004 trial UK cohort

AimsTo report visual acuity (VA) outcomes following chemotherapy for optic pathway glioma (OPG) in children with or without neurofibromatosis type-1 (NF1) and to analyse associated risk factors.MethodsA prospective, multicentre, cohort...

LG-16RADIOGRAPHIC AND OPHTHALMOLOGIC CHARACTERISTICS OF OPTIC PATHWAY GLIOMA IN CHILDREN WITH NEUROFIBROMATOSIS 1

LG-16. RADIOGRAPHIC AND OPHTHALMOLOGIC CHARACTERISTICS OF OPTIC PATHWAY GLIOMA IN CHILDREN WITH NEUROFIBROMATOSIS 1 Elizabeth Unterbrink1, Benita Tamrazi1,2, Mark Borchert1,2, Ashley Margol1,2, Linda Randolph1,2, Tena Rosser1,2, Girish Dhall1,2, and Nathan Robison1,2; Children’s Hospital Los Angeles, Los Angeles, CA, USA; University of Southern California Keck School of Medicine, Los Angeles, CA, USA OBJECTIVE: To describe the natural history of optic pathway glioma (OPG) in children with neurofibromatosis 1 (NF1). METHODS: The Children’s Hospital Los Angeles (CHLA) institutional review board approved this retrospective study. Using a clinical database, we identified children with NF1 and OPG followed at CHLAwith at least 1 MRI obtained at ,12 years of age from 6/1/1997-5/31/2014. Demographic, treatment, and visual field/ acuity data were extracted. MRIs were reviewed by a neuroradiologist. RESULTS: Of 63 children with NF1 and OPG, 50 had available imaging and were included. Mean age at initial MRI was 4.8 years; mean follow-up was 6.8 years. OPG was apparent on brain MRI in 4/7 children at ,2 years (57%; 95% confidence interval[95%CI] 20-94); 19/23 by 4 years (83%; 95%CI 67-98); 29/31 by 6 years (94%; 95%CI 85-100); and 50/50 by 12 years. Among 13 children (26%) who subsequently received tumor-directed treatment, OPG was MRI-apparent in 5/6 children by 4 years (83%; 95%CI 54-100), 8/9 by 6 years (89%; 95%CI 68-100) and 13/13 by 8 years. Among children with detailed visual outcome data, visual impairment was seen in 6/20 at , 4 years (30%; 95%CI 10-50); and 26/45 by 12 years (58%; 95%CI 43-72). A subset had normalization of vision, with persistent visual abnormalities in only 14/41 children on follow-up (34%; 95%CI 20-49). DISCUSSION: A minority of children without MRI-apparent OPG at initial evaluation eventually developed symptomatic disease. The high incidence of early-onset visual abnormalities highlights the importance of early NF1 diagnosis and ophthalmologic screening. Neuro-Oncology 18:iii78–iii96, 2016. doi:10.1093/neuonc/now075.16 #The Author(s) 2016. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.