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Optic pathway glioma

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https://read.qxmd.com/read/30772473/acquired-and-progressive-myelinated-retinal-nerve-fibers-in-neurofibromatosis-type-1
#1
Filipa Teixeira, Ana Cláudia Fonseca, Filomena Pinto
Acquired myelinated retinal nerve fibers (MRNF) is rare. The reported cases occur after optic disk injuries. We describe a case of a patient with neurofibromatosis type 1 and bilateral optic pathway glioma, who after 3 years' follow-up developed unilateral MRNF. Optical coherence tomography of the optic nerve disclosed progressive increased thickness and hyper-reflectivity of the peripapillary retinal nerve fiber layer associated with the myelinization process. Although the patient remains asymptomatic, myelinization continues to progress...
February 14, 2019: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://read.qxmd.com/read/30724342/pediatric-malignancies-in-neurofibromatosis-type-1-a-population-based-cohort-study
#2
Sirkku Peltonen, Roope A Kallionpää, Matti Rantanen, Elina Uusitalo, Päivi M Lähteenmäki, Minna Pöyhönen, Janne Pitkäniemi, Juha Peltonen
Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome with an incidence of 1:2000. Patients with NF1 have an increased cancer risk and mortality, but there are no population-based cohort studies specifically investigating the risk of childhood malignancies. We used the Finnish NF1 cohort to analyze the incidence, risk and prognosis of malignancies in NF1 patients <20 years of age. Persons born in 1987-2011 were included, and 524 persons were followed through the files of the Finnish Cancer Registry from birth up to age 20 years...
February 6, 2019: International Journal of Cancer. Journal International du Cancer
https://read.qxmd.com/read/30711963/manifestations-and-treatment-of-adult-onset-symptomatic-optic-pathway-glioma-in-neurofibromatosis-type-1
#3
Juliane Mehlan, Frank Schüttauf, Johannes M Salamon, Uwe Kordes, Reinhard E Friedrich, Victor-Felix Mautner
This report describes the diagnosis and treatment of a 27-year-old patient with neurofibromatosis 1 (NF1) and late progression of a pre-existing optic pathway glioma (OPG) that caused significant reduction in vision. OPG is one of the diagnostic criteria for establishing the diagnosis of NF1. Most common findings of NF1 are café-au-lait spots, axillary and inguinal freckling of the skin, iris hamartoma (Lisch nodules), and tumors of the central nervous system and peripheral nerves. We successfully applied a modified International Society of Paediatric Oncology chemotherapy regimen for low-grade glioma in children with carboplatin dose adjustment according to the area under the plasma drug concentration-time curve calculation...
February 2019: Anticancer Research
https://read.qxmd.com/read/30684665/outcomes-following-proton-therapy-for-pediatric-low-grade-glioma
#4
Daniel J Indelicato, Ronny L Rotondo, Haruka Uezono, Eric S Sandler, Philipp R Aldana, Nathan J Ranalli, Alexandra D Beier, Christopher G Morris, Julie A Bradley
BACKGROUND/OBJECTIVES: Dosimetric studies show that proton therapy can reduce the low/intermediate radiation dose to uninvolved tissue in children with low-grade glioma (LGG). For this reason, LGG is the 4th most common pediatric tumor treated with proton therapy, yet clinical outcome data on efficacy and toxicity are limited. DESIGN/METHODS: We reviewed the medical records of 174 children (≤21 years old) with non-metastatic LGG enrolled on a prospective protocol and treated with proton therapy between 2007 and 2017 to assess clinical outcomes and toxicity, and analyze patient, tumor, and treatment-related variables...
January 23, 2019: International Journal of Radiation Oncology, Biology, Physics
https://read.qxmd.com/read/30684113/comparison-of-multi-shot-and-single-shot-echo-planar-diffusion-tensor-techniques-for-the-optic-pathway-in-patients-with-neurofibromatosis-type-1
#5
Chang Y Ho, Rachael Deardorff, Stephen F Kralik, John D West, Yu-Chien Wu, Chie-Schin Shih
PURPOSE: Diffusion tensor imaging (DTI) may be helpful in assessing optic pathway integrity as a marker for treatment in neurofibromatosis type 1 (NF1) patients with optic gliomas (OG). However, susceptibility artifacts are common in typical single-shot echo planar imaging (ssDTI). A readout-segmented multi-shot EPI technique (rsDTI) was utilized to minimize susceptibility distortions of the skull base and improve quantitative metrics. METHODS: Healthy controls, children with NF1 without OG, and NF1 with OG ± visual symptoms were included...
January 25, 2019: Neuroradiology
https://read.qxmd.com/read/30676433/trametinib-toxicities-in-patients-with-low-grade-gliomas-and-diabetes-insipidus-related-findings
#6
Grace Egan, Jill Hamilton, Tara McKeown, Eric Bouffet, Uri Tabori, Peter Dirks, Ute Bartels
Low-grade gliomas (LGG) represent the most common form of primary central nervous system tumor arising in childhood. There is growing evidence to support the role of the mitogen-activated protein kinase pathway in driving tumor growth and MEK inhibitors are being investigated in clinical trials for refractory and unresectable LGGs. As MEK inhibitors progress through clinical trials, drug toxicities have been identified. We report on 2 pediatric patients with LGG and known diabetes insipidus who developed severe hyponatraemia associated with significant decreases in desmopressin doses after starting trametinib...
January 22, 2019: Journal of Pediatric Hematology/oncology
https://read.qxmd.com/read/30620400/treatment-burden-and-long-term-health-deficits-of-patients-with-low-grade-gliomas-or-glioneuronal-tumors-diagnosed-during-the-first-year-of-life
#7
Anthony P Y Liu, Camden Hastings, Shengjie Wu, Johnnie K Bass, Andrew M Heitzer, Jason Ashford, Robert Vestal, Mary E Hoehn, Yahya Ghazwani, Sahaja Acharya, Heather M Conklin, Frederick Boop, Thomas E Merchant, Amar Gajjar, Ibrahim Qaddoumi
BACKGROUND: Low-grade gliomas (LGGs) and low-grade glioneuronal tumors (LGGNTs) diagnosed during the first year of life carry unique clinical characteristics and challenges in management. However, data on the treatment burden, outcomes, and morbidities are lacking. METHODS: A retrospective study of LGGs and LGGNTs diagnosed in patients younger than 12 months at St. Jude Children's Research Hospital (1986-2015) was conducted. RESULTS: For the 51 patients (including 31 males), the mean age at diagnosis was 6...
January 8, 2019: Cancer
https://read.qxmd.com/read/30497138/pediatric-silent-corticotroph-pituitary-adenoma-and-role-for-proton-therapy-case-report
#8
(no author information available yet)
Tumors involving the sella are commonly craniopharyngiomas, optic pathway gliomas, or pituitary adenomas. Functioning adenomas are expected, with prolactinomas topping the differential. The authors present the case of a silent corticotroph adenoma, which has not been described in the pediatric population, and they detail the use of proton therapy, which is also novel.
November 1, 2018: Journal of Neurosurgery. Pediatrics
https://read.qxmd.com/read/30431740/coexistence-of-neurofibromatosis-type-1-with-multiple-malignant-neoplasia
#9
(no author information available yet)
Neurofibromatosis type 1 (NF1, von Recklinghausen disease) is inherited in autosomal dominant way genetic disorder, with an incidence at birth 1:3000. It is one of the most common congenital disorders. It is characterized by café-au-lait spots, neurofibromas, and less common MPTST and gliomas of the optic nerve. It is caused by germline mutations of the NF1 gene, which acts as tumor suppressor. Inactivation of the gene leads to increased activation of the kinase pathways, and in consequence, uncontrolled proliferation of cells...
September 15, 2018: Neuro Endocrinology Letters
https://read.qxmd.com/read/30387339/neurofibromatosis-type-1-review-and-update-on-emerging-therapies
#10
Tanya Karaconji, Eline Whist, Robyn V Jamieson, Maree P Flaherty, John R B Grigg
Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder affecting 1:3000 births. This familial tumor predisposition syndrome is diagnosed clinically and affects the skin, bones, and nervous system. Malignant tumors can arise in childhood or adulthood and are the commonest cause of mortality in this population. Early diagnosis and management led by a multidisciplinary team remains the standard of care, particularly in the management of optic pathway glioma. Emerging concepts in the genetic patterns of this condition have led to the introduction of new treatment modalities that target the mitogen activated protein kinase (MAPK) and the mammalian target of rapamycin (mTOR) pathways...
November 2, 2018: Asia-Pacific Journal of Ophthalmology
https://read.qxmd.com/read/30371910/prevalence-of-strabismus-among-children-with-neurofibromatosis-type-1-disease-with-and-without-optic-pathway-glioma
#11
Gad Dotan, Hanya M Qureshi, Hagit Toledano-Alhadef, Nur Azem, Claudia Yahalom
PURPOSE: To evaluate the prevalence of strabismus in neurofibromatosis type 1 (NF-1) by comparing children with normal neuroimaging to those with optic pathway glioma. METHODS: A retrospective data collection of all children with NF-1 with neuroimaging studies examined at a single medical center between 2000 and 2016. RESULTS: 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...
October 26, 2018: Journal of Pediatric Ophthalmology and Strabismus
https://read.qxmd.com/read/30338361/endoscopic-transnasal-resection-of-optic-pathway-pilocytic-astrocytoma
#12
Sarah Bin Abdulqader, Ziyad Al-Ajlan, Abdulrahman Albakr, Wisam Issawi, Mohammed Al-Bar, Pablo F Recinos, Saad Alsaleh, Abdulrazag Ajlan
PURPOSE: Optic pathway gliomas (OPGs) are low-grade neoplasms that primarily affect children. The management of OPGs remains controversial. Reports on the use of the endoscopic endonasal approach (EEA) in OPGs are extremely limited, and no such reports exist on its utility for pediatric OPGs. Here, we report our results and experience with OPGs treated with the EEA. METHODS: We retrospectively reviewed the medical records of OPG patients who were treated surgically via the EEA at our institutions from 2015 to 2017...
January 2019: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://read.qxmd.com/read/30302402/genetically-engineered-minipigs-model-the-major-clinical-features-of-human-neurofibromatosis-type-1
#13
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://read.qxmd.com/read/30284379/correlation-of-peripapillary-retinal-nerve-fibre-layer-thickness-with-visual-acuity-in-paediatric-patients-affected-by-optic-pathway-glioma
#14
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...
December 2018: Acta Ophthalmologica
https://read.qxmd.com/read/30239366/optic-pathway-gliomas-in-neurofibromatosis-type-1-imaging-and-monitoring
#15
Shannon J Beres
No abstract text is available yet for this article.
2018: International Ophthalmology Clinics
https://read.qxmd.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
#16
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://read.qxmd.com/read/30087692/identification-of-mutation-regions-on-nf1-responsible-for-high-and-low-risk-development-of-optic-pathway-glioma-in-neurofibromatosis-type-i
#17
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://read.qxmd.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
#18
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://read.qxmd.com/read/30078056/monitoring-optic-chiasmatic-hypothalamic-glioma-volumetric-changes-by-mri-in-children-under-clinical-surveillance-or-chemotherapy
#19
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://read.qxmd.com/read/29999469/regression-after-subtotal-resection-of-an-optic-pathway-glioma-in-an-adult-without-adjuvant-therapy-case-report
#20
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
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