Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017638 (glioma)
 30,880 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bilateral acoustic neurofibromatosis (neurofibromatosis 2, NF2) accounts for less than 10% of all cases of neurofibromatosis and manifests itself with bilateral acoustic schwannomas, multiple schwannomas of spinal nerve roots, meningiomas, glial tumors and hamartomatous CNS lesions. We have observed dysplastic foci of immature neuroectodermal cells in the cerebral cortex and basal ganglia of six patients afflicted with neurofibromatosis 2, ranging from occasional clusters of immature, dysplastic cells to numerous, confluent lesions. These cells, although often polymorphic and multinuclear did not show mitotic activity or a tendency for neoplastic transformation. To determine the histogenesis of these foci, extensive immunocytochemical reactions were carried out with antibodies to a variety of glial, neuronal and non-neural cell lineages. With the exception of S-100 protein, no immunoreactivity was detectable. S-100 was consistently expressed in these foci, irrespective of their size, location, and degree of polymorphism. On the basis of cytological appearance, distribution and immunoreactivity we tentatively designate these foci as glial micro-hamartomas. Although we did not systematically analyze the CNS of patients with von Recklinghausen neurofibromatosis (neurofibromatosis 1, NF1), the present study strongly suggests that these micro-hamartomas constitute a morphological hallmark of bilateral acoustic neurofibromatosis (NF2).
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PMID:Distribution and immunoreactivity of cerebral micro-hamartomas in bilateral acoustic neurofibromatosis (neurofibromatosis 2). 259 63

Tumors of the central nervous system (CNS) are common causes of morbidity and mortality. These tumors can occur sporadically or in individuals with genetic disorders predisposing to cancer development. Such syndromes include neurofibromatosis type 2, neurofibromatosis type 1, Li-Fraumeni syndrome, as well as von Hippel-Lindau disease, tuberous sclerosis, and Turcot syndrome. There may also be familial syndromes resulting in glioma or meningioma alone, but these are not well understood. Development of sporadic gliomas is accompanied by a number of molecular genetic alterations, including activation of dominant oncogenes and inactivation of tumor suppressor genes. Some of these alterations may be associated with progression of gliomas to their most malignant form, glioblastoma multiforme. However, at this time molecular genetic analysis of gliomas does not provide better prognosis than histopathological staging. Recently, experimental treatments of gliomas in rodents, using gene therapy, have been reported. Results of these studies have been promising, and these techniques may represent a future direction for therapy in humans.
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PMID:Genetics, prognosis and therapy of central nervous system tumors. 802 96

Several ocular findings have been associated with neurofibromatosis type 2 (NF 2) since the identification of this disease as a distinct clinical entity. Juvenile cataracts were reported first, followed by combined pigment epithelial and retinal hamartomas. In a recent report, epiretinal membranes were described in seven of nine patients. Moreover, an association between NF 2 and optic disc gliomas has been suggested based on earlier published reports. Six patients with a confirmed diagnosis of NF 2 were examined. Four patients (six of 12 eyes) had epiretinal membranes and one had an optic disc glioma. In addition, one case of an optic disc glioma in a patient with NF 2 was tracked. It is concluded that epiretinal membranes are frequent in NF 2, and that optic disc glioma is a rare but specific sign of NF 2. Patients at risk for development of this disease should undergo careful examination of the ocular fundus.
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PMID:Ocular fundus in neurofibromatosis type 2. 821 34

To date, magnetic resonance angiography (MRA) has been used in neuroradiology mainly to study vascular malformations and atherosclerotic changes of the carotid bifurcation. Our study was aimed at investigating the role of MRA with the time-of-flight technique in the study of intracranial neoplasms; a superconductive 1.5 T magnet was used, and FLASH and FISP 2D and 3D pulse sequences were acquired before and after Gd-DTPA administration. Fifty-five MRA examinations were performed. Our series consists in 32 meningiomas, 14 glial tumors, 3 hypophysis adenomas, 2 metastases, 1 NF2, 2 craniopharyngiomas, 1 lymphoma and 1 rhinopharyngeal carcinoma with intracranial involvement. In 27 patients MRA results were compared with DSA findings. The results showed high agreement relative to indirect angiographic patterns (dislocations, encasement, dural sinuses involvement) and poor accuracy in the demonstration of tumor vascularization (inflow and outflow, vascular neoformation).
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PMID:[Magnetic resonance angiography in the study of neoplastic cerebral pathology]. 848 47

Ependymomas are glial tumors of the brain and spinal cord occurring both sporadically and in a familial syndrome, neurofibromatosis type 2 (NF2). Previous analyses performed on specimens obtained predominantly from adult patients have shown loss of DNA sequences from chromosome arm 22q, which is the location of the NF2 gene. Previously, we documented the consistent loss of chromosome arm 17p DNA in medulloblastoma and astrocytoma, which are the most common brain tumors in children. Although mutation of the TP53 gene located on 17p is the most frequent genetic mutation in all adult tumor types, such mutations are rare in most childhood brain tumors investigated to date. We studied a series of pediatric ependymoma specimens (16 intracranial and 2 spinal) for loss of 17p and 22q DNA sequences and for mutation of the TP53 and NF2 genes. None of the children had the clinical stigmata of NF2. We detected loss of 17p DNA sequences in 9 of the 18 specimens (50%); in 7 of 9 of these specimens (78%), the 144-D6 marker was deleted. In contrast, only 2 of these same 18 specimens (11%) showed loss of 22q DNA. One TP53 gene mutation was detected in a child from a cancer kindred. No mutations were detected in the NF2 gene. Our results suggest that loss of chromosome arm 17p DNA sequences is common in sporadic pediatric ependymomas and that, in contrast to ependymomas in adults, deletion of chromosome arm 22q sequences is rare. Furthermore, TP53 and NF2 gene mutations do not play an important role in the etiology of sporadic pediatric ependymomas.
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PMID:Molecular genetic analysis of chromosome arm 17p and chromosome arm 22q DNA sequences in sporadic pediatric ependymomas. 888 5

Neurofibromatosis (NF) 1 and 2 are multisystem disorders associated with a variety of neoplastic and non-neoplastic manifestations that typically progress in severity during the lifetime of the affected patient. The importance of appropriately diagnosing these disorders stems from the fact that the natural history of an associated neoplasm, such as a peripheral nerve tumor or an optic glioma, may be significantly different depending on whether or not the lesion arises in a person with NF. In addition, the indications for therapeutic intervention, hierarchy of treatment options and long-term management goals may differ substantially for patients with NF-related versus sporadic tumors. Finally, recognition of the diagnosis comprises an essential step for providing appropriate multidisciplinary evaluation and counseling to affected patients and their families. This article addresses the principal manifestations of these disorders and provides a contemporary review of the diagnostic and therapeutic issues that arise in children with NF1 and NF2.
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PMID:Neurofibromatosis 1 and 2. 916 32

Neurofibromatosis 2 (NF2) protein (merlin; schwannomin) is a tumor suppressor involved in tumorigenesis of NF2-associated and sporadic schwannomas and meningiomas. The protein shares the domain structure of three homologous proteins: ezrin, radixin and moesin (ERM). ERM proteins function as membrane organizers and may act as linkers between plasma membrane molecules, such as CD44 and ICAM-2, and the cytoskeleton. We analyzed the distribution and effects of transfected NF2 protein in COS-1, CHO and 293 cells, and endogenous NF2 protein in U251 glioma cells. The distribution was compared to ezrin, CD44 and F-actin. Both transfected and endogenous NF2 protein localized underneath the plasma membrane in a pattern typical of an ERM protein. In COS-1 transfectants, NF2 protein typically codistributed with ezrin but, in cells with poorly developed actin cytoskeleton, it replaced ezrin in filopodia and ruffling edges. NF2 protein colocalized with CD44, which in transfected cells accumulated into restructured cell membrane protrusions. The association of CD44 and NF2 protein was further suggested by binding of CD44 from cellular lysates to recombinant NF2 protein. Interaction between NF2 protein and the actin-containing cytoskeleton was indicated by partial colocalization, by cytochalasin B-induced coclustering, and by retention of NF2 protein in the detergent-insoluble fraction. Transfected NF2 protein induced morphogenic changes. The cells contained restructured membrane extensions and blebs, and CHO cells expressing NF2 protein were more elongated than control transfectants. In conclusion, NF2 protein possesses functional properties of an ERM family member.
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PMID:Neurofibromatosis 2 tumor suppressor protein colocalizes with ezrin and CD44 and associates with actin-containing cytoskeleton. 937 74

For decades, neurofibromatosis type 2 (NF2) was misclassified with the more common neurofibromatosis type 1 (NF1), until 1987 when it was found via genetic linkage analysis that the gene for NF1 was localized to chromosome 17 and the gene for NF2 was localized to chromosome 22. Large, population-based studies have shown that vestibular schwannomas (VS), the hallmark of NF2, do not occur at increased frequency in patients with NF1. Typical clinical features of NF2 are bilateral VS or a family history of NF2, plus either unilateral VS or any two of the following: meningioma, glioma, neurofibroma, schwannoma or posterior subcapsular lenticular opacities. Presymptomatic genetic tests are now possible in the majority of families, and it is hoped that somatic gene therapy will be developed for the treatment of this disease.
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PMID:Neurofibromatosis type 2: genetic and clinical features. 1008 94

Over a one year period, the multidisciplinary consultation of the Saint-Vincent-de-Paul Hospital for neurofibromatosis examined 26 children. Twenty-two children underwent an ophthalmological examination (21 NF1, 1 NF2). Lisch nodule was the most frequent symptom (12 cases) and corneal nerves were visible in 3 cases. We had only one case of retinal and choroidal hamartoma. Glioma was a frequent symptom (5 cases). Other signs were uncommon. The case of NF2 showed a 3rd nerve palsy and lens droplets. Our evaluation confirms the frequency of Lisch nodules as the most frequent symptom of NF1. The visibility of corneal nerves and hamartoma are suggestive signs. The glioma number fits well with its statistical frequency. One year evaluation of our NF clinic allows us to confirm the relative frequency of the different signs associated with neurofibromatosis. It emphasizes the importance of teaching its diagnosis and follow-up to ophthalmologists.
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PMID:[Importance of multidisciplinary consultations for children with neurofibromatosis]. 1060 70

Loss of heterozygosity for chromosome 22 (LOH 22) occurs in gliomas of all malignancy grades. Neurofibromatosis type 2 (NF2) patients are at increased risk of developing a glioma. However, the NF2 gene in 22q12.2 is not involved in glioma tumorigenesis. To detect additional regions on chromosome 22 that may harbor tumor suppressor genes important in glioma tumorigenesis, we determined LOH 22 profiles for 159 gliomas using 32 markers. LOH 22 was found in 46 tumors (29%). Thirteen tumors displayed partial LOH 22, from which we deduced a region of common deletion between markers D22S928 and D22S1169 in 22q13.3. LOH of at least this region was detected in 13% of the astrocytomas (As), in 20% of the anaplastic astrocytomas (AAs) and in 35% of the glioblastomas multiforme (GBMs). The significant increased frequency of LOH 22q13.3 in the highest malignancy grade (GBM vs. A and AA, p = 0.02) indicates that loss of this region is associated with astrocytoma progression.
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PMID:A region of common deletion in 22q13.3 in human glioma associated with astrocytoma progression. 1065 23


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