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Optic pathway glioma

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https://www.readbyqxmd.com/read/30302402/genetically-engineered-minipigs-model-the-major-clinical-features-of-human-neurofibromatosis-type-1
#1
Sara H Isakson, Anthony E Rizzardi, Alexander W Coutts, Daniel F Carlson, Mark N Kirstein, James Fisher, Jeremie Vitte, Kyle B Williams, G Elizabeth Pluhar, Sonika Dahiya, Brigitte C Widemann, Eva Dombi, Tilat Rizvi, Nancy Ratner, Ludwine Messiaen, Anat O Stemmer-Rachamimov, Scott C Fahrenkrug, David H Gutmann, Marco Giovannini, Christopher L Moertel, David A Largaespada, Adrienne L Watson
Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 ( NF1 ). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development. Many NF1 animal models have been developed, yet none display the spectrum of disease seen in patients and the translational impact of these models has been limited. We describe a minipig model that exhibits clinical hallmarks of NF1, including café au lait macules, neurofibromas, and optic pathway glioma...
2018: Communications biology
https://www.readbyqxmd.com/read/30284379/correlation-of-peripapillary-retinal-nerve-fibre-layer-thickness-with-visual-acuity-in-paediatric-patients-affected-by-optic-pathway-glioma
#2
Raffaele Parrozzani, Giacomo Miglionico, Francesca Leonardi, Serena Pulze, Eva Trevisson, Maurizio Clementi, Enrico Opocher, Viviana Licata, Elisabetta Viscardi, Elisabetta Pilotto, Luisa Frizziero, Edoardo Midena
PURPOSE: To evaluate peripapillary retinal nerve fibre layer (RNFL) thickness, measured by spectral-domain optical coherence tomography (SD-OCT), as a surrogate of visual function in a population of paediatric patients affected by optic pathway glioma (OPG) associated with neurofibromatosis type 1 (NF1). METHODS: A total of 38 paediatric patients (66 eyes) affected by MRI-proven OPG were included. Each patient underwent complete ophthalmological examination, including age-appropriate visual acuity (VA) assessment and RNFL analysis by SD-OCT...
October 3, 2018: Acta Ophthalmologica
https://www.readbyqxmd.com/read/30239366/optic-pathway-gliomas-in-neurofibromatosis-type-1-imaging-and-monitoring
#3
Shannon J Beres
No abstract text is available yet for this article.
2018: International Ophthalmology Clinics
https://www.readbyqxmd.com/read/30190611/expanding-the-clinical-phenotype-of-individuals-with-a-3-bp-in-frame-deletion-of-the-nf1-gene-c-2970_2972del-an-update-of-genotype-phenotype-correlation
#4
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D Hicks, Arthur S Aylsworth, Amedeo A Azizi, Donald G Basel, Gary Bellus, Lynne M Bird, Maria A Blazo, Leah W Burke, Ashley Cannon, Felicity Collins, Colette DeFilippo, Ellen Denayer, Maria C Digilio, Shelley K Dills, Laura Dosa, Robert S Greenwood, Cristin Griffis, Punita Gupta, Rachel K Hachen, Concepción Hernández-Chico, Sandra Janssens, Kristi J Jones, Justin T Jordan, Peter Kannu, Bruce R Korf, Andrea M Lewis, Robert H Listernick, Fortunato Lonardo, Maurice J Mahoney, Mayra Martinez Ojeda, Marie T McDonald, Carey McDougall, Nancy Mendelsohn, David T Miller, Mari Mori, Rianne Oostenbrink, Sebastién Perreault, Mary Ella Pierpont, Carmelo Piscopo, Dinel A Pond, Linda M Randolph, Katherine A Rauen, Surya Rednam, S Lane Rutledge, Veronica Saletti, G Bradley Schaefer, Elizabeth K Schorry, Daryl A Scott, Andrea Shugar, Elizabeth Siqveland, Lois J Starr, Ashraf Syed, Pamela L Trapane, Nicole J Ullrich, Emily G Wakefield, Laurence E Walsh, Michael F Wangler, Elaine Zackai, Kathleen B M Claes, Katharina Wimmer, Rick van Minkelen, Alessandro De Luca, Yolanda Martin, Eric Legius, Ludwine M Messiaen
PURPOSE: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors. METHODS: A total of 135 individuals from 103 unrelated families, all carrying the constitutional NF1 p...
September 7, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30087692/identification-of-mutation-regions-on-nf1-responsible-for-high-and-low-risk-development-of-optic-pathway-glioma-in-neurofibromatosis-type-i
#5
Min Xu, Hui Xiong, Yanfang Han, Chijun Li, Shaozhen Mai, Zhongzhou Huang, Xuechen Ai, Zhixuan Guo, Fanqin Zeng, Qing Guo
Neurofibromatosis type I is a rare neurocutaneous syndrome resulting from loss-of-function mutations of NF1 . The present study sought to determine a correlation between mutation regions on NF1 and the risk of developing optic pathway glioma (OPG) in patients with neurofibromatosis type I. A total of 215 patients with neurofibromatosis type I, from our clinic or previously reported literature, were included in the study after applying strict inclusion and exclusion criteria. Of these, 100 patients with OPG were classified into the OPG group and 115 patients without OPG (aged ≥ 10 years) were assigned to the Non-OPG group...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/30084225/-they-ve-got-a-lot-of-needs-and-i-don-t-think-they-re-being-met-fully-a-qualitative-study-of-the-multi-professional-team-approach-to-the-management-of-children-with-optic-pathway-gliomas
#6
Benjamin Sturgess, Morven Brown, Faye Fraser, Simon Bailey
BACKGROUND: Optic pathway gliomas (OPGs) are low-grade tumours of the visual pathway. Although survival rates are high, there is considerable morbidity and hence treatment focuses on preservation of vison and quality of life. The multiple, complex issues faced by these patients are often confounded by a concurrent diagnosis of neurofibromatosis type-1 (NF1). As there is a paucity of literature addressing the current practices of the multi-professional team (MPT) caring for children diagnosed with an OPG, individual professional experiences often guide the MPT's approach to the care of these children and their families...
August 7, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/30078056/monitoring-optic-chiasmatic-hypothalamic-glioma-volumetric-changes-by-mri-in-children-under-clinical-surveillance-or-chemotherapy
#7
Nathalia Cunha Calixto, Gustavo Novelino Simão, Antonio Carlos Dos Santos, Ricardo Santos de Oliveira, Luiz Guilherme Darrigo Junior, Elvis Terci Valera, Murilo Bicudo Cintra, Alessandro Spano Mello
PURPOSE: Optic pathway gliomas represent 5% of pediatric brain tumors and are typically low-grade lesions. Because of their unpredictable clinical course, adequate treatment approaches have been controversial, involving surveillance, surgery, chemotherapy, and radiotherapy. In this study, we use volumetric imaging to compare evolution of optic chiasmatic-hypothalamic gliomas (OCHG) treated with and without chemotherapy, analyzing tumor volume variation during the overall period. METHODS: A total of 45 brain MRI were retrospectively analyzed for 14 patients with OCHG...
August 4, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29999469/regression-after-subtotal-resection-of-an-optic-pathway-glioma-in-an-adult-without-adjuvant-therapy-case-report
#8
Eveline Teresa Hidalgo, Michelle W McQuinn, Jeffrey H Wisoff
Optic pathway gliomas (OPGs) are relatively common and benign lesions in children; however, in adults these lesions are nearly always malignant and hold a very poor prognosis. In this report the authors present the case of an adult patient with a benign OPG who underwent subtotal resection without adjuvant therapy and has had no tumor progression for more than 20 years. A 50-year-old woman presented with a 2-year history of personality changes, weight gain, and a few months of visual disturbances. Ophthalmological evaluation showed incomplete right homonymous hemianopsia...
June 1, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29980859/current-concepts-in-radiologic-assessment-of-pediatric-brain-tumors-during-treatment-part-1
#9
REVIEW
Felice D'Arco, Sinead Culleton, Laurens J L De Cocker, Kshitij Mankad, Jorge Davila, Benita Tamrazi
Pediatric brain tumors differ from those in adults by location, phenotype and genotype. In addition, they show dissimilar imaging characteristics before and after treatment. While adult brain tumor treatment effects are primarily assessed on MRI by measuring the contrast-enhancing components in addition to abnormalities on T2-weighted and fluid-attenuated inversion recovery images, these methods cannot be simply extrapolated to pediatric central nervous system tumors. A number of researchers have attempted to solve the problem of tumor assessment during treatment in pediatric neuro-oncology; specifically, the Response Assessment in Pediatric Neuro-Oncology (RAPNO) working group was recently established to deal with the distinct challenges in evaluating treatment-related changes on imaging, but no established criteria are available...
July 6, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29848144/endovascular-glue-embolization-of-a-radiation-induced-lenticulostriate-artery-pseudoaneurysm-in-a-pediatric-patient-with-optic-pathway-glioma-case-report-and-review-of-literature
#10
Satya Narayana Patro, Daniela Iancu, Taleb Al Mansoori, Howard Lesiuk, Michael Vassilyadi
Radiation-associated vascular changes most commonly present in the form of stenosis, thrombosis and occlusion. However, development of intracranial aneurysms secondary to radiation is far less common and often manifests with rupture. These aneurysms are difficult to treat and associated with high morbidity and mortality when ruptured compared with saccular aneurysms unrelated to radiation treatment. Both surgical and endovascular options are available for treatment of these aneurysms. We present a young patient with a radiation-induced intracranial pseudoaneurysm arising from the lenticulostriate branch of the left middle cerebral artery (MCA); this developed 1 year 4 months after 59...
October 2018: Interventional Neuroradiology
https://www.readbyqxmd.com/read/29806747/for-debate-personalized-health-care-as-exemplified-by-home-sodium-measurements-in-a-child-with-central-diabetes-insipidus-and-impaired-thirst-perception
#11
EDITORIAL
A A A van der Linde, A E van Herwaarden, J D Oosting, H L Claahsen-van der Grinten, E P L M de Grouw
BACKGROUND: We describe a 6-year old boy with central diabetes insipidus (CDI) caused by destruction of the pituitary gland due to treatment of an optical pathway glioma. He has been treated with chemotherapy and has had several debulking operations over the past years and consequently developed central hypocortisolism, hypothyroidism and CDI. The treatment of CDI was gravely complicated by an impaired thirst perception and compulsive drinking behavior. He was frequently seen at the ER or admitted due to dysregulation of fluid balance...
April 2018: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/29789890/surveillance-magnetic-resonance-imaging-for-isolated-optic-pathway-gliomas-is-gadolinium-necessary
#12
Ezekiel Maloney, A Luana Stanescu, Francisco A Perez, Ramesh S Iyer, Randolph K Otto, Sarah Leary, Lotte Steuten, Amanda I Phipps, Dennis W W Shaw
BACKGROUND: Pediatric optic pathway gliomas are typically indolent but have a variable clinical course. Treatment is dictated by symptoms and changes on contrast-enhanced MRI examinations. Gadolinium retention in children has motivated parsimonious use of gadolinium-based contrast agents. OBJECTIVES: To determine surveillance MR factors that motivate changes in tumor-directed therapies and extrapolate cost-efficacy of a non-contrast follow-up protocol. MATERIALS AND METHODS: Using an imaging database search we identified children with isolated optic pathway gliomas and ≥3 follow-up contrast-enhanced MRIs...
September 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29780905/morning-glory-disc-anomaly-and-ipsilateral-sporadic-optic-pathway-glioma
#13
Michael Kinori, Natasha Pillay Smiley, Janice Lasky Zeid
Purpose: To present a rare case of morning glory disc anomaly in association with an ipsilateral low grade glioma. Observations: A 5 year old male presented with a unilateral morning glory disc anomaly and an ipsilateral sporadic optic pathway glioma with chiasmal involvement. After a strict patching regimen his vision improved from 20/400 to 20/80. Conclusions and importance: This report strengthens the recommendation for brain magnetic resonance imaging in patients with morning glory disc anomaly...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29766345/visual-function-assessed-by-visually-evoked-potentials-in-optic-pathway-low-grade-gliomas-with-and-without-neurofibromatosis-type-1
#14
Patrícia de Freitas Dotto, Adriana Berezovsky, Andrea Maria Cappellano, Nasjla Saba da Silva, Paula Yuri Sacai, Frederico Adolfo B Silva, Arthur Gustavo Fernandes, Daniel Martins Rocha, Solange Rios Salomão
PURPOSE: To investigate the contribution of full-field transient pattern-reversal visually evoked potentials (PRVEP) on cross-sectional evaluations of visual function in patients with and without neurofibromatosis type 1 (NF1) affected by optic pathway low-grade gliomas (OPLGG). METHODS: Participants were children and adolescents referred for visual function evaluation and receiving treatment for OPLGG, linked (NF1-OPLGG) or not to NF1 (Non-NF1-OPLGG). An age-adjusted control group was included for comparison...
May 15, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/29754292/investigation-of-retinal-nerve-fiber-layer-thickness-and-ganglion-cell-layer-inner-plexiform-layer-thickness-in-patients-with-optic-pathway-gliomas
#15
Mustafa Hepokur, Ahmet Murat Sarici
PURPOSE: This study aimed to compare the optical coherence tomography (OCT) findings of optic pathway glioma (OPG) patients (sporadic or secondary to neurofibromatosis type 1, NF1) with NF1 without OPG patients and healthy controls. METHODS: This was a prospective, case-control study in which 27 patients (13 with OPGs and 14 with NF1 without OPGs) and 13 control subjects were included. The retinal nerve fiber layer (RNFL) thickness, macular thickness, and ganglion cell layer-inner plexiform layer (GCL-IPL) thickness findings measured using OCT and the results were compared between the groups...
May 12, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29742884/pediatric-glioma-at-the-optic-pathway-and-thalamus
#16
REVIEW
Eun Suk Park, Jun Bum Park, Young-Shin Ra
Gliomas are the most common pediatric tumors of the central nervous system. In this review, we discuss the clinical features, treatment paradigms, and evolving concepts related to two types of pediatric gliomas affecting two main locations: the optic pathway and thalamus. In particular, we discuss recently revised pathologic classification, which adopting molecular parameter. We believe that our review contribute to the readers' better understanding of pediatric glioma because pediatric glioma differs in many ways from adult glioma according to the newest advances in molecular characterization of this tumor...
May 2018: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/29741274/neurologic-impairments-from-pediatric-low-grade-glioma-by-tumor-location-and-timing-of-diagnosis
#17
Zsila S Sadighi, Elizabeth Curtis, Jennifer Zabrowksi, Catherine Billups, Amar Gajjar, Raja Khan, Ibrahim Qaddoumi
BACKGROUND: The neurologic outcomes of low-grade gliomas (LGGs) according to tumor location and duration of presenting symptoms remain poorly characterized in children. PROCEDURE: We retrospectively reviewed neurologic impairments in 246 pediatric patients with LGGs (88 with optic pathway and midline tumors, 56 with posterior fossa tumors, 52 with cerebral hemisphere tumors, 35 with brainstem tumors, and 15 with spinal cord tumors) who were treated at St. Jude Children's Research Hospital between 1995 and 2005...
August 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29704429/insights-into-optic-pathway-glioma-vision-loss-from-mouse-models-of-neurofibromatosis-type-1
#18
REVIEW
Morgan E Freret, David H Gutmann
Neurofibromatosis type 1 (NF1) is a common cancer predisposition syndrome caused by mutations in the NF1 gene. The NF1-encoded protein (neurofibromin) is an inhibitor of the oncoprotein RAS and controls cell growth and survival. Individuals with NF1 are prone to developing low-grade tumors of the optic nerves, chiasm, tracts, and radiations, termed optic pathway gliomas (OPGs), which can cause vision loss. A paucity of surgical tumor specimens and of patient-derived xenografts for investigative studies has limited our understanding of human NF1-associated OPG (NF1-OPG)...
April 28, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29685181/serial-mris-provide-novel-insight-into-natural-history-of-optic-pathway-gliomas-in-patients-with-neurofibromatosis-1
#19
Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K S Heran, Patricia Birch, Ralph Wenzel, Victor-Felix Mautner, Jan M Friedman
BACKGROUND: Optic pathway gliomas (OPGs) are present in 20% of children with neurofibromatosis 1 (NF1) but are less frequently observed in adults. Our goal was to determine the natural history of OPGs in children and adults with NF1. RESULTS: We analyzed the features of OPGs and other intracranial lesions on 1775 head MRI scans of 562 unselected adults and children with NF1 collected between 2003 and 2015. 52 (9.3%) of 562 patients in this study had an OPG diagnosed on their MRI...
April 23, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29684925/minimally-invasive-resection-of-deep-seated-high-grade-gliomas-using-tubular-retractors-and-exoscopic-visualization
#20
Rajiv Iyer, Kaisorn L Chaichana
BACKGROUND AND STUDY AIMS/OBJECTIVE:  Deep-seated high-grade gliomas (HGGs) represent a unique surgical challenge because they reside deep to critical cortical and subcortical structures and infiltrate functional areas of the brain. Therefore, accessing and resecting these tumors can often be challenging and associated with significant morbidity. We describe the use of minimally invasive approaches to access deep-seated HGGs to achieve extensive resections while minimizing surgical morbidity...
July 2018: Journal of Neurological Surgery. Part A, Central European Neurosurgery
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