scholarly journals RONC-05. PRESERVING VISION IN OPTIC PATHWAY GLIOMA AMONG PATIENTS WITHOUT NEUROFIBROMATOSIS TYPE 1

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii457-iii457
Author(s):  
Alexander Hanania ◽  
Arnold Paulino ◽  
Ethan Ludmir ◽  
Veeral Shah ◽  
Susan McGovern ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Initial Therapy ◽  
Optic Pathway Glioma ◽  
Rank Test ◽  
Low Grade ◽  
Optic Pathway ◽  
Longitudinal Assessment ◽  
Local Progression ◽  
Age Appropriate ◽  
Modern Era

Abstract PURPOSE Sporadic optic pathway/hypothalamic gliomas (OP/HGs) represent a unique entity within pediatric low-grade glioma. Despite favorable survival, the location makes treatment difficult and local progression debilitating. We conducted longitudinal assessment of visual acuity (VA) among patients treated in the modern era with chemotherapy (CT) or early radiotherapy (RT). METHODS Clinical characteristics were abstracted for patients treated over a 15-year period (2000–2015) at a single institution. Comprehensive ophthalmologic data taken at three to six-month intervals was examined with age-appropriate VA metrics converted to LogMAR scale. Kaplan-Meir “blindness-free survival” (BFS) curves were calculated as time to bilateral functional blindness (i.e. LogMAR ≥ 0.8 in both eyes), stratified by treatment and compared using log-rank test. RESULTS Thirty-six patients with median follow-up of 7.6 years (range: 2–17) were identified. Median age at diagnosis was 2.5 years (IQR: <1–5). Early RT was administered as initial therapy (n=6) or first-line salvage (n=5) in a total of eleven patients (31%) at a mean age of 12 years (range: 6–17). Twenty-five patients (69%) were maintained primarily on CT with a mean age at initiation of 2.4 years (range <1–8). Of these, five patients received RT after ≥2 systemic therapy regimens. In terms of visual preservation, five/eight-year BFS rates were 84%/59% and 100%/100%, for CT and early RT, respectively (p=0.046). CONCLUSIONS In a contemporary cohort, early RT, defined as initial or 1st line salvage therapy for OP/HGs manifested in superior VA. Children undergoing CT are at highest risk of functional blindness following five years of treatment.

scholarly journals Disseminated craniospinal low-grade glioma in a patient with NF-1 without optic pathway pathology: illustrative case

2021 ◽  
Vol 2 (18) ◽  
Author(s):  
Alan R. Tang ◽  
Joseline Haizel-Cobbina ◽  
Paisit Paueksakon ◽  
Asha Sarma ◽  
Julie Bennett ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Optic Pathway Glioma ◽  
Molecular Testing ◽  
Illustrative Case ◽  
Low Grade ◽  
Optic Pathway ◽  
Autosomal Dominant Disorder ◽  
Imaging Evaluation ◽  
The Central Nervous System ◽  
The Right

BACKGROUND Neurofibromatosis type 1 (NF-1) is a neurocutaneous autosomal dominant disorder that predisposes patients to develop intracranial low-grade gliomas (LGGs). Most LGGs in patients with NF-1 involve the optic pathway but can arise anywhere throughout the central nervous system. NF-1–related disseminated pediatric LGG (dPLGG) in the absence of a dominant optic pathway glioma has not been described. OBSERVATIONS The authors discussed a case of a 10-year-old boy who presented with consideration for biopsy with nonoptic pathway PLGG with craniospinal dPLGG in the setting of NF-1. The patient’s primary lesion, located in the right medulla, was initially treated with surveillance before induction chemotherapy with carboplatin and vincristine was initiated. However, surveillance imaging demonstrated significant increase in size and enhancement, and subsequent craniospinal imaging demonstrated extensive nodular dissemination in the cervicothoracic spine. A biopsy and molecular testing were subsequently performed to further evaluate the tumor, and the patient was diagnosed with dPLGG with CDKN2A deletion. LESSONS Thorough craniospinal magnetic resonance imaging evaluation and biopsy in nonoptic pathway–dominant brain lesions in NF-1 are warranted in patients with atypical clinical and radiological findings in whom standard chemotherapeutic therapy fails.

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

2018 ◽  
Vol 102 (10) ◽  
pp. 1367-1371 ◽  
Author(s):  
Kevin Falzon ◽  
Evangelos Drimtzias ◽  
Susan Picton ◽  
Ian Simmons
Keyword(s):  
Risk Factors ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Paediatric Oncology ◽  
Optic Pathway Glioma ◽  
Final Visit ◽  
Low Grade ◽  
Optic Pathway ◽  
Associated Risk Factors

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 study involving 155 children treated between September 2004 and December 2012. Initial and final VA was used for per-eye and per-subject analysis. Correlation tests were performed to determine whether initial VA predicted final VA. Logistic regression was used to determine whether age and tumour location were associated risk factors.Results90 children had complete ophthalmological data. At initiation of chemotherapy, 26% and 49% of eyes with NF1-OPG and sporadic OPG, respectively, had VA of ≥0.7 log of the minimum angle of resolution (logMAR). At final visit, per eye, 49% had ≤0.2, 23% had 0.30–0.60 and 28% had VA≥0.70 logMAR in the NF1-OPG group. In the sporadic OPG group, per eye, 32% had ≤0.2, 11% had VA 0.30–0.60 and 57% had ≥0.70 logMAR. Children with sporadic OPG, per eye, were significantly less likely to have VA outcomes ≤0.60 logMAR compared with children with NF1-OPG (OR=0.30; 95% CI 0.16 to 0.56; P<0.0001). Per subject, VA improved in 24%, remained stable in 35% and worsened in 41% of children with NF1-OPG and improved in 18%, remained stable in 43% and worsened in 39% of children with sporadic OPG.ConclusionsChildren with and without NF1 demonstrated the same rate of VA improvement, stabilisation or worsening; however, children with sporadic OPG had a poorer VA outcome. Better initial VA, older age, absence of postchiasm tumour and presence of NF1 were associated with improved or stable VA outcomes.

scholarly journals Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Anne Munk Henning ◽  
Mette Møller Handrup ◽  
Sia Mariann Kjeldsen ◽  
Dorte Ancher Larsen ◽  
Cecilie Ejerskov
Keyword(s):  
Risk Factor ◽  
Visual Impairment ◽  
Neurofibromatosis Type 1 ◽  
Protective Factor ◽  
Neurofibromatosis Type ◽  
University Hospital ◽  
Optic Pathway Glioma ◽  
Low Grade ◽  
Optic Pathway

Abstract Background Low-grade optic pathway glioma (OPG) develops in 15–20% of children with neurofibromatosis type 1 (NF1). OPGs are symptomatic in 30–50% and one-third of these require treatment. A few studies have suggested female sex as a risk factor for visual impairment associated with NF1-OPG. This descriptive study investigated the correlation between NF1-OPG growth, sex and visual impairment. Method We based our cross-sectional study on a systematic, retrospective data collection in a NF1 cohort of children and adolescents below 21 years of age followed at Center for Rare Diseases, Aarhus University Hospital, Denmark. For each patient with OPG a medical chart review was performed including demographics, ophthalmological examinations and magnetic resonance imaging (MRI) of OPG. Results Of 176 patients with NF1 (85 females, 91 males), we identified 21 patients with OPG (11.9%) with a preponderance of females, p = 0.184. Eight females (62%) and one male (13%) had visual impairment at the last ophthalmological evaluation. Five out of 21 children with OPG (24%) underwent diagnostic MRI because of clinical findings at the ophthalmological screening. Nine children (43%) had symptoms suggestive of OPG and seven (33%) experienced no OPG-related symptoms before the diagnostic MRI. Of eight children diagnosed with OPG ≤ two years of age, one had visual impairment. Of 13 children diagnosed > two years of age, eight had visual impairment; in each group, four of the children were treated with chemotherapy. The study suggested no correlation between NF1-OPG growth and sex. Conclusion Our data suggest sex as a risk factor for visual impairment, while an OPG diagnose ≤ two years of age was a protective factor for visual impairment. Females with NF1-OPG had a higher prevalence of visual impairment outcome compared to males. Interestingly, our data also suggest a better response to treatment in children with OPG diagnosed ≤ two years of age compared to older children. The findings in our study suggest sex as a potential prognostic factor for visual impairment.

Optic pathway glioma with intraocular extension in a child with neurofibromatosis type-1

2020 ◽  
Vol 43 (5) ◽  
pp. e179-e181
Author(s):  
F. Palma-Carvajal ◽  
H. González-Valdivia ◽  
J.P. Figueroa-Vercellino ◽  
C. Saavedra-Gutiérrez ◽  
C. Rovira-Zurriaga ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Pathway Glioma ◽  
Optic Pathway

scholarly journals High-Dose Intravenous Vitamin C Treatment of a Child with Neurofibromatosis Type 1 and Optic Pathway Glioma: A Case Report

2016 ◽  
Vol 17 ◽  
pp. 774-781 ◽  
Author(s):  
Nina Mikirova ◽  
Ronald Hunnunghake ◽  
Ruth C. Scimeca ◽  
Charles Chinshaw ◽  
Faryal Ali ◽  
...  
Keyword(s):  
Case Report ◽  
Vitamin C ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Pathway Glioma ◽  
High Dose ◽  
Optic Pathway ◽  
Intravenous Vitamin

Macrocephaly Is Not a Predictor of Optic Pathway Glioma Development or Treatment in Neurofibromatosis Type 1

2016 ◽  
Vol 31 (14) ◽  
pp. 1540-1545 ◽  
Author(s):  
Stephanie M. Morris ◽  
Courtney L. Monroe ◽  
David H. Gutmann
Keyword(s):  
Prognostic Factor ◽  
Brain Tumors ◽  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Pathway Glioma ◽  
Optic Pathway ◽  
Clinical Progression ◽  
Clinical Biomarkers

Neurofibromatosis type 1 is a common neurogenetic disorder characterized by significant clinical variability. As such, numerous studies have focused on identifying clinical, radiographic, or molecular biomarkers that predict the occurrence or progression of specific clinical features in individuals with neurofibromatosis type 1. One of these clinical biomarkers, macrocephaly, has been proposed as a prognostic factor for optic pathway glioma development. In the current study, the authors demonstrate that macrocephaly is not associated with the development of these brain tumors or the need to institute treatment for clinical progression. These findings suggest that macrocephaly is not a robust biomarker of optic pathway glioma formation or progression in children with neurofibromatosis type 1.

scholarly journals Optic pathway glioma volume predicts retinal axon degeneration in neurofibromatosis type 1

Neurology ◽  
2016 ◽  
Vol 87 (23) ◽  
pp. 2403-2407 ◽  
Author(s):  
Robert A. Avery ◽  
Awais Mansoor ◽  
Rabia Idrees ◽  
Carmelina Trimboli-Heidler ◽  
Hiroshi Ishikawa ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Pathway Glioma ◽  
Axon Degeneration ◽  
Optic Pathway ◽  
Retinal Axon
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