Supplementary Table 2 from The Neurofibromatosis Type 1 Tumor Suppressor Controls Cell Growth by Regulating Signal Transducer and Activator of Transcription-3 Activity <i>In vitro</i> and <i>In vivo</i>
Sutapa BanerjeeJonathan N. ByrdScott M. GianinoScott E. HarpstriteFausto J. RodríguezRobert G. TuskanKarlyne M. ReillyDavid Piwnica‐WormsDavid H. Gutmann
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Supplementary Table 2 from The Neurofibromatosis Type 1 Tumor Suppressor Controls Cell Growth by Regulating Signal Transducer and Activator of Transcription-3 Activity <i>In vitro</i> and <i>In vivo</i>Keywords:
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Neurofibromatosis type 1 (NF1) is a benign peripheral nerve sheath tumor which primarily cause neurocutaneous manifestations. We presented a rare case of periportal neurofibromatosis with intrahepatic, retroperitoneal and pelvic involvement. The patient underwent US-guided biopsy and a diagnosis of intrahepatic neurofibromatosis was made.
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Neurofibromatosis type 1 is a common autosomal dominant genetic disorder associated with numerous physical anomalies and an increased incidence of neuropsychological impairment. Tumors of the CNS occur in approximately 15% of children with neurofibromatosis, presenting additional risk for cognitive impairment. This study examines the impact of an additional diagnosis of brain tumor on the cognitive profile of children with neurofibromatosis. A comprehensive battery of neuropsychological tests was administered to 149 children with neurofibromatosis. Thirty-six of these children had a codiagnosis of brain tumor. A subset of 36 children with neurofibromatosis alone was matched with the group of children diagnosed with neurofibromatosis and brain tumor. Although mean scores of the neurofibromatosis plus brain tumor group were, in general, lower than those of the neurofibromatosis alone group, these differences were not statistically significant. Children in the neurofibromatosis plus brain tumor group who received cranial irradiation (n = 9) demonstrated weaker academic abilities than did children with brain tumor who had not received that treatment. These results suggest that neurofibromatosis is associated with impairments in cognitive functioning, but the severity of the problems is not significantly exacerbated by the codiagnosis of a brain tumor unless treatment includes cranial irradiation.
Brain tumor
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The association between neurofibromatosis and visual pathway gliomas is well documented. The introduction of computed tomography and magnetic resonance imaging has heralded a new era in the understanding of visual pathway gliomas. Both of these noninvasive neuroinvestigative techniques have demonstrated extensive abnormalities throughout the visual pathway in children with visual pathway gliomas, especially in those with neurofibromatosis. The clinical significance of these abnormal areas of brain, especially in asymptomatic patients, is unknown. In an attempt to clarify the incidence, natural history, and clinical course of patients with neurofibromatosis and visual pathway lesions, we reviewed our experience with 24 patients managed consecutively at Children's Hospital of Philadelphia over the past 12 years. The patients in this series were compared to 29 children with visual pathway gliomas without neurofibromatosis who were evaluated at our institution over the same period of time. Visual pathway gliomas in children with neurofibromatosis differ from those in children without neurofibromatosis. In general, lesions tended to be more extensive in patients with neurofibromatosis and the clinical course of these patients is more variable. Twelve of the 24 patients with neurofibromatosis in our series had symptoms of progressive disease at the time of diagnosis and underwent treatment with variable results. Twelve children with neurofibromatosis and visual pathway lesions had static lesions at the time of diagnosis and, to date, 3 have developed progressive disease. From our review we can make some recommendations concerning the management of children with neurofibromatosis and visual pathway gliomas, but many questions remain unanswered. Sequential follow-up of a large cohort of both asymptomatic and symptomatic children with neurofibromatosis and visual pathway lesions is needed to more definitively outline the best management approach for these patients.
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Neurofibromatosis takes two major forms; classical or peripheral neurofibromatosis as described by von Recklinghausen, which accounts for more than 90% of the cases, and central or bilateral acoustic neurofibromatosis. The diagnosis is often postponed until adulthood, since the classical signs gradually appear during childhood and adolescence. It is a relatively common autosomal dominant disorder affecting about one in 3,000. At least 20% of patients will develop one or more complications associated with neurofibromatosis. One of the complications is the development of malignancies. Four children at our hospital developed different forms of malignant tumours arising from neurofibromatosis. We recommend that all patients suffering from this disease are evaluated in detail after the diagnosis has been confirmed and are followed up every six to 12 months. In this way complications may be discovered early and the necessary steps taken.
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Background: We report two cases of mosaic generalized neurofibromatosis 1 (NF1) and review the history of the classification of segmental neurofibromatosis (SNF; Ricardi type NF-V). Somatic mutations giving rise to limited disease, such as segmental neurofibromatosis are manifestations of mosaicism. If the mutation occurs before tissue differentiation, the clinical phenotype will be generalized disease. Mutations that occur later in development give rise to disease that is confined to a single region. Objectives: Segmental neurofibromatosis is caused by a somatic mutation of neurofibromatosis type 1, and should not be regarded as a distinct entity from neurofibromatosis 1. Cases previously referred to as unilateral or bilateral segmental neurofibromatosis are now best referred to as mosaic generalized or mosaic localized neurofibromatosis 1.
Neurofibromatoses
Neurofibromin 1
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Objective:To study the MRI features of neurofibromatosis.Materials and Methods:This study included 12 patients of neurofibromatosis,the MRI findings were analyzed.Results:Neurofibromatosis was found in NF I(n=10)or NFⅡ(n=2),MRI could well demonstrate the size,the shape and the signal characteristics of neurofibromatosis.Conclusion:MRI can be considered as first choice of study in diagnosing of neurofibromatosis.
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Neurofibromatosis type I
Neurofibromatoses
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The initial symptoms and signs of neurofibromatosis in 25 children are reported, and the literature is briefly reviewed. Two little known associations of neurofibromatosis are revealed. Four children showed hydrocephalus related to stricture of the aqueduct of Sylvius. Four other children presented with failure to thrive in infancy which was regarded in retrospect as a non-specific association of neurofibromatosis. It is emphasized that such manifestations may be the presenting features of neurofibromatosis in children.
Failure to Thrive
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Neurofibromatosis 1 and neurofibromatosis 2 are autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency. Since the original National Institutes of Health Consensus Development Conference in 1987, there has been significant progress toward a more complete understanding of the molecular bases for neurofibromatosis 1 and neurofibromatosis 2. Our objective was to determine the diagnostic criteria for neurofibromatosis 1 and neurofibromatosis 2, recommendations for the care of patients and their families at diagnosis and during routine follow-up, and the role of DNA diagnostic testing in the evaluation of these disorders.Published reports from 1966 through 1996 obtained by MEDLINE search and studies presented at national and international meetings.All studies were reviewed and analyzed by consensus from multiple authors.Peer-reviewed published data were critically evaluated by independent extraction by multiple authors.The main results of the review were qualitative and were reviewed by neurofibromatosis clinical directors worldwide through an Internet Web site.On the basis of the information presented in this review, we propose a comprehensive approach to the diagnosis and treatment of individuals with neurofibromatosis 1 and neurofibromatosis 2.
Neurofibromatoses
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