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Turkish Archives of Pediatrics Jul 2021Neurofibromatosis (NF) is the most common autosomal dominantly inherited neurocutaneous syndrome. The characteristic features of NF type 1 (NF-1) are café au lait...
OBJECTIVE
Neurofibromatosis (NF) is the most common autosomal dominantly inherited neurocutaneous syndrome. The characteristic features of NF type 1 (NF-1) are café au lait spots, axillary and inguinal freckling, peripheral neurofibromas, optic pathway glioma, and Lisch nodules. The present study aimed to analyze the clinical features of children with NF-1.
MATERIALS AND METHODS
In this study, the children with NF-1 diagnosed and followed-up in our center between 2000 and 2020 were retrospectively evaluated. Demographic and clinical features of patients were defined.
RESULTS
The study group consisted of 52 patients. Of those, 25 were boys and 27 were girls. The children's median age at diagnosis was 5.9 years (1-15.8). Café au lait (CAL) spots and axillary/inguinal freckling were observed in 50 and 24 patients, respectively. Neurofibroma was present in 22 cases. Ten of the cohort had optic gliomas, and 39 of them had cranial hamartomas. Orthopedic complications such as scoliosis, tibial pseudoarthrosis, and osteoporosis were observed in 13 patients. Eleven children had neurocognitive disorders.
CONCLUSIONS
Early diagnosis is important in neurofibromatosis to prevent the complications of the disease. Also, neurological development and secondary malignancy follow-up should be done carefully in this group of patients.
PubMed: 35005728
DOI: 10.5152/TurkArchPediatr.2021.20165 -
Experimental Neurology Jan 2018The future of precision medicine is heavily reliant on the use of human tissues to identify the key determinants that account for differences between individuals with... (Review)
Review
The future of precision medicine is heavily reliant on the use of human tissues to identify the key determinants that account for differences between individuals with the same disorder. This need is exemplified by the neurofibromatosis type 1 (NF1) neurogenetic condition. As such, individuals with NF1 are born with a germline mutation in the NF1 gene, but may develop numerous distinct neurological problems, ranging from autism and attention deficit to brain and peripheral nerve sheath tumors. Coupled with accurate preclinical mouse models, the availability of NF1 patient-derived induced pluripotent stem cells (iPSCs) provides new opportunities to define the critical factors that underlie NF1-associated nervous system disease pathogenesis and progression. In this review, we discuss the generation and potential applications of iPSC technology to the study of NF1.
Topics: Animals; Biological Variation, Individual; Brain; Brain Neoplasms; Cellular Reprogramming Techniques; Disease Models, Animal; Drug Screening Assays, Antitumor; Forecasting; Genes, Neurofibromatosis 1; Germ-Line Mutation; Humans; Induced Pluripotent Stem Cells; Mice; Mice, Knockout; Models, Neurological; Nerve Regeneration; Nerve Sheath Neoplasms; Neurodevelopmental Disorders; Neurofibroma; Neurofibromatosis 1; Neurofibromin 1; Optic Nerve Glioma; Organoids; Precision Medicine
PubMed: 28392281
DOI: 10.1016/j.expneurol.2017.04.001 -
Frontiers in Oncology 2022We aimed to analyze the epidemiology and outcomes of pediatric patients and adult patients with optic pathway gliomas in the United States using a population-based...
BACKGROUND
We aimed to analyze the epidemiology and outcomes of pediatric patients and adult patients with optic pathway gliomas in the United States using a population-based method.
METHODS
Data for patients with optic pathway gliomas diagnosed between 2000 and 2018 were extracted from the SEER database. We divided the patients into a pediatric group and an adult group. Descriptive analyses were conducted to analyze demographic and clinical characteristics and treatment. We used the chi-square test to evaluate differences between pediatric and adult patients with optic pathway gliomas. The possible prognostic indicators were analyzed by Kaplan-Meier curves and Cox proportional hazards models.
RESULTS
Optic pathway gliomas represented 86.6% of all lesions originating from the optic pathway. In total, 1257 cases of optic pathway gliomas were included in our study. Pediatric patients accounted for 83.7% in this cohort, and most of the patients were diagnosed at 1-4 years old. Chemotherapy was chosen most often for pediatric patients, but radiation therapy was chosen most often for adult patients. Pilocytic astrocytoma accounted for 59.1% of pediatric patients and 37.5% of adult patients. The overall survival (OS) rates were 94.8% 5 years after diagnosis and 93.0% 10 years after diagnosis. Survival analysis showed that surgery, radiation and chemotherapy did not help patients obtain a better prognosis. Overall, pediatric patients had a better prognosis.
CONCLUSION
Optic pathway gliomas are relatively rare lesions with good prognosis. They mostly affect children, and pilocytic astrocytoma is the most common histological diagnosis. Highly individualized treatment is essential for such patients.
PubMed: 35223473
DOI: 10.3389/fonc.2022.789856 -
Clinical Ophthalmology (Auckland, N.Z.) 2016Neurofibromatosis (NF) is a multisystem disorder and tumor predisposition syndrome caused by genetic mutation on chromosome 17-17q11.2 in NF type 1 (NF1), and on... (Review)
Review
Neurofibromatosis (NF) is a multisystem disorder and tumor predisposition syndrome caused by genetic mutation on chromosome 17-17q11.2 in NF type 1 (NF1), and on chromosome 22-22q12.2 in NF type 2. The disorder is characterized by considerable heterogeneity of clinical expression. NF1 is the form with the most characteristic ocular manifestations. Lisch nodules of the iris are among the well-known diagnostic criteria for the disease. Glaucoma and associated globe enlargement have been described in a significant proportion of patients with NF1 and orbital-facial involvement. Optic nerve glioma may cause strabismus and proptosis, and palpebral neurofibroma may reach considerable size and occasionally show malignant transformation. Near infrared reflectance has greatly contributed to enhancing our knowledge on choroidal alterations in NF1. Indeed, some authors have proposed to include these among the diagnostic criteria. Optical coherence tomography has given new insight on retinal alterations and is a noninvasive tool in the management of optic nerve gliomas in children. Ocular manifestations in NF type 2 can range from early-onset cataracts in up to 80% of cases to optic nerve hamartomas and combined pigment epithelial and retinal hamartomas.
PubMed: 27257370
DOI: 10.2147/OPTH.S102830 -
Journal of Neuro-oncology Feb 2022Optic pathway gliomas are often asymptomatic tumors occurring in children with neurofibromatosis type 1 (NF1 + OPG) or sporadically (spOPG). Treatment is usually...
Tumor load rather than contrast enhancement is associated with the visual function of children and adolescents with optic pathway glioma - a retrospective Magnetic Resonance Imaging study.
INTRODUCTION
Optic pathway gliomas are often asymptomatic tumors occurring in children with neurofibromatosis type 1 (NF1 + OPG) or sporadically (spOPG). Treatment is usually prompted by visual loss and/or tumor progression on MRI. The aim of this study was to investigate the relationship between visual acuity (VA), tumor growth, and contrast enhancement to provide more distinct indications for the administration of gadolinium-based contrast agents.
METHODS
Tumor load was retrospectively measured and enhancement semi-quantitatively scored on 298 MRIs of 35 patients (63% NF1 + OPG). Spearman rank correlation between tumor load and enhancement was calculated and a linear mixed model used to examine the influence of tumor load and enhancement on corresponding VA tests (LogMAR).
RESULTS
The optic nerve width in NF1 + OPGs was strongly associated with VA (regression coefficient 0.75; confidence interval 0.61-0.88), but weakly with enhancement (0.06; -0.04-0.15). In spOPGs, tumor volume and optic nerve width were more relevant (0.31; -0.19-0.81 and 0.39; 0.05-0.73) than enhancement (0.09; -0.09-0.27).
CONCLUSIONS
Tumor load measures may be more relevant for the surveillance of optic pathway gliomas than enhancement, given that VA is the relevant outcome parameter. Regular contrast administration should therefore be questioned in these patients.
Topics: Adolescent; Child; Contrast Media; Humans; Magnetic Resonance Imaging; Neurofibromatosis 1; Optic Nerve Glioma; Retrospective Studies; Tumor Burden
PubMed: 34994964
DOI: 10.1007/s11060-021-03941-1 -
CNS Oncology Jan 2017With the recent development of new anticancer therapies targeting the immune system, it is important to understand which immune cell types and cytokines play critical... (Review)
Review
With the recent development of new anticancer therapies targeting the immune system, it is important to understand which immune cell types and cytokines play critical roles in suppressing or promoting tumorigenesis. The role of mast cells in promoting neurofibroma growth in neurofibromatosis type 1 (NF1) patients was hypothesized decades ago. More recent experiments in mouse models have demonstrated the causal role of mast cells in neurofibroma development and of microglia in optic pathway glioma development. We review here what is known about the role of NF1 mutation in immune cell function and the role of immune cells in promoting tumorigenesis in NF1. We also review the therapies targeting immune cell pathways and their promise in NF1 tumors.
Topics: Animals; Gene Expression Regulation, Neoplastic; Humans; Immune System; Mutation; Nervous System Neoplasms; Neurofibromatosis 1; Neurofibromin 1; Signal Transduction
PubMed: 28001089
DOI: 10.2217/cns-2016-0024 -
Diagnostic and Interventional Imaging Oct 2013Damage to the optic nerve (ON) is characterised by a reduction in visual acuity. Pre-chiasmatic lesions to the optic nerve may be of traumatic, congenital, tumoral... (Review)
Review
Damage to the optic nerve (ON) is characterised by a reduction in visual acuity. Pre-chiasmatic lesions to the optic nerve may be of traumatic, congenital, tumoral (meningioma, glioma), inflammatory or vascular origins. In all cases, MRI is the choice means of exploration, carried out with axial and coronal sections with a thickness of 2.5-3mm and T1 and T2-weighted spin echo sequences. The coronal sections may be carried out with fat signal saturation for an elective study of the size of the retrobulbar portion of the ON.
Topics: Diagnosis, Differential; Guideline Adherence; Humans; Image Enhancement; Image Interpretation, Computer-Assisted; Magnetic Resonance Imaging; Optic Chiasm; Optic Nerve; Optic Nerve Diseases; Optic Nerve Injuries; Optic Nerve Neoplasms; Sensitivity and Specificity; Visual Acuity
PubMed: 23830778
DOI: 10.1016/j.diii.2013.06.001 -
Neurology India 2020Gamma knife for gliomas is a relatively obscure treatment modality with few reports and small series available on the same. An extensive search of English Language... (Review)
Review
Gamma knife for gliomas is a relatively obscure treatment modality with few reports and small series available on the same. An extensive search of English Language literature yields no comprehensive reviews of the same. We here, attempt to review the available literature on gamma knife for all types of gliomas: Low grade, High grade, recurrent, and also for pediatric populations. We used keywords such as "Gamma Knife Glioma," "Stereotactic Radiosurgery Glioma," "Gamma Knife," "Adjuvant therapy Glioma" "Recurrent Glioma" on PubMed search engine, and articles were selected with respect to their use of gamma Knife for Gliomas and outcome for the same. These were then analyzed and salient findings were elucidated. This was combined with National Comprehensive Cancer Network guidelines for the same and also included our own initial experience with these tumors. Gamma-knife improved long term survival and quality of life in patients with low grade gliomas. In pediatric low grade gliomas, it may be considered as a treatment modality with a marginal dose of 12-14 Gy, especially in eloquent structures such as brain stem glioma, anterior optic pathway hypothalamic glioma. However, in newly diagnosed high-grade glioma gamma knife radiosurgery (GKRS) is not recommended because of a lack of definitive evidence in tumor control and quality of life. GKRS may find its role in palliative care of recurrent gliomas irrespective of type and grade. Inspite of growing experience with GKRS for gliomas, there is no Level I evidence in support of GKRS, hence better designed randomized controlled trials with long term outcomes are warranted. Although this modality is not a "one size fits all' therapy, it has its moments when chosen correctly and applied wisely. Gliomas being the most common tumors operated in any neurosurgical setting, knowledge about this modality and its application is essential and useful.
Topics: Adult; Brain Neoplasms; Child; Glioma; Humans; Neoplasm Grading; Neoplasm Recurrence, Local; Radiosurgery
PubMed: 32415008
DOI: 10.4103/0028-3886.284356 -
AJNR. American Journal of Neuroradiology Apr 2007Optic nerve tortuosity is one of several nonmalignant abnormalities documented on MR imaging in patients with neurofibromatosis type 1 and may be related to the...
BACKGROUND AND PURPOSE
Optic nerve tortuosity is one of several nonmalignant abnormalities documented on MR imaging in patients with neurofibromatosis type 1 and may be related to the development of optic pathway gliomas. This study seeks an operational definition for optic nerve tortuosity.
MATERIALS AND METHODS
A focus group of 3 pediatric neuroradiologists reviewed 20 MR images of the brain and orbits of patients suspected to have optic nerve tortuosity in the absence of optic pathway glioma and found 6 radiographic factors that occurred frequently. Subsequently, 28 MR images were assessed for the presence of optic nerve tortuosity, using a global assessment question that reflects a neuroradiologist's confidence in the presence of optic nerve tortuosity, and for the presence of the 6 radiographic factors, to identify a combination of these factors that best predicted a diagnosis of optic nerve tortuosity.
RESULTS
We found perfect inter-rater agreement between 3 readers on the presence/absence of tortuosity in 75% of cases. Lack of congruity of the optic nerves, in more than 1 coronal section and dilation of the subarachnoid space surrounding the optic nerves, when found together are sensitive (89%) and specific (93%) for a diagnosis of tortuosity on the global scale. The absence of these 2 factors, along with absence of deviation of the optic nerve within the axial plane, provides a reliable test to exclude tortuosity.
CONCLUSION
Lack of congruity of the optic nerves in more than 1 coronal section and dilation of the subarachnoid space surrounding the optic nerves together provide an operational radiographic definition of optic nerve tortuosity.
Topics: Brain; Humans; Magnetic Resonance Imaging; Models, Statistical; Neurofibromatosis 1; Observer Variation; Optic Nerve; Optic Nerve Glioma; Orbit
PubMed: 17416818
DOI: No ID Found -
Journal of Pediatric Genetics Dec 2014Pediatric genetic ocular tumors include malignancies like retinoblastoma and phakomatosis like neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and...
Pediatric genetic ocular tumors include malignancies like retinoblastoma and phakomatosis like neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and nevoid basal cell carcinoma syndrome. It is important to screen for ocular tumors both for visual prognosis and also for systemic implications. The phakomatosis comprise of multitude of benign tumors that are aysmptomatic but their detection can aid in the diagnosis of the syndrome. Retinoblastoma is the most common malignant intraocular tumor in childhood and with current treatment modalities, the survival is more than 95%. It is transmitted as an autosomal dominant fashion and hence the offsprings of all patients with the germline retinoblastoma need to be screened from birth. This review discusses the various pediatric genetic ocular tumors discussing the clinical manifestation, diagnosis and treatment.
PubMed: 27625882
DOI: 10.3233/PGE-14107