1/36. Neurofibromatosis type 2 with multiple primary brain tumors in monozygotic twins.BACKGROUND: Although monozygotic twins with neurofibromatosis complicated by brain tumors rarely have been reported, none of them fulfilled the diagnostic criteria for neurofibromatosis type 2 (NF2). METHOD: We describe here the first pair of monozygotic twins with NF2, and the result of the molecular analysis of their NF2 gene. RESULTS: One of the brothers (Case 1) developed tetraparesis and cerebellar truncal ataxia at age 12. He had no skin lesions. Radiological examinations revealed, at one time or another, bilateral vestibular schwannomas, a foramen magnum meningioma, five supratentorial meningiomas, and multiple spinal cord tumors. He underwent three operations over a 10-year period to remove tumors. The patient is now 23 years old and is in college. Although asymptomatic when examined at age 12, CT scan revealed that his brother (Case 2) also had multiple brain tumors, including meningiomas, schwannomas, and multiple spinal tumors. Tumors were removed in eight operations over a 10-year period. The patient is now deaf and confined to a wheelchair. An identical nonsense mutation caused by a C to T transition (C169) in a CpG dinucleotide of the NF2 gene was identified in both patients. CONCLUSION: These results led us to speculate that dissimilarities with respect to time of appearance, distribution, and extent of symptoms and tumors between the twins were dependent on the influence of other genetic factors.- - - - - - - - - - ranking = 1keywords = meningioma, meningiomas (Clic here for more details about this article) |
2/36. meningioma with meningioangiomatosis: a condition mimicking invasive meningiomas in children and young adults: report of two cases and review of the literature.Meningioangiomatosis is a malformative meningovascular proliferation that occurs sporadically and in patients with neurofibromatosis type 2. Its histologic features of perivascular proliferation of elongated fibroblast and meningothelial cells trapping islands of gliotic cortex may be erroneously interpreted as invasion when an overlying meningioma is present. We report two cases of meningioangiomatosis associated with meningioma and review the literature on the subject for a total of six cases. The age of patients ranged from 9 months to 33 years. All cases were single lesions, and none had clinical evidence of neurofibromatosis type 2. Meningiomas in children have been regarded as having more aggressive behavior than their adult counterparts, with more frequent invasion of the underlying brain. The lack of correlation between brain invasion and recurrence observed in series of meningiomas in young patients may suggest that some of these lesions are meningioangiomatosis associated with meningioma rather than invasive meningiomas.- - - - - - - - - - ranking = 3keywords = meningioma, meningiomas (Clic here for more details about this article) |
3/36. Focal amyotrophy in neurofibromatosis 2.Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by bilateral vestibular schwannomas and other CNS tumours including meningiomas and spinal schwannomas. Occasionally, peripheral neuropathy occurs in these patients but this is the first report of focal amyotrophy. Clinical, electrophysiological, and imaging data from four NF2 patients seen at a specialist neurofibromatosis clinic over a 4 year period are described in whom symptomatic focal amyotrophy preceded the diagnosis of NF2. Two presented with wasting and weakness of a single muscle group, several years before NF2 was diagnosed. In one patient a mononeuritis multiplex was the presenting feature of NF2, and in one patient focal wasting and weakness developed after the diagnosis of NF2 was made. In none of the four cases could a focal peripheral nerve or root neurofibroma be identified despite extensive imaging with MRI, and the limitations of neuroimaging for identifying a structural cause in patients with NF2 with a focal peripheral nerve lesion is discussed. It is likely that NF2 may affect peripheral nerve structures in a manner distinct from a compressive schwannoma.- - - - - - - - - - ranking = 0.35638719944064keywords = meningioma, meningiomas (Clic here for more details about this article) |
4/36. Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene.Neurofibromatosis type 2 (NF2) is an autosomal dominant cancer syndrome that predisposes to the development of bilateral vestibular schwannomas sometimes associated with schwannomas at other locations, meningiomas, ependymomas and juvenile posterior subcapsular lenticular opacities. This disease is caused by inactivating mutations in the NF2 tumour-suppressor gene, located in 22q12. Recently, somatic mosaicism has been demonstrated in some "de novo" NF2 patients. We here report the genetic study of 33 NF2 patients from 33 unrelated Italian families. Twelve mutations were characterised, including seven newly identified mutations and five recurrent ones. Furthermore, we describe one patient with an inactivating mutation that lies in exon 13 but that is present in only a portion of the lymphocytes and, more importantly, a clinically normal individual carrying a somatic/germinal mosaicism for a nonsense mutation in exon 10 of the NF2 gene. Our results confirm the relatively high percentage of mosaicism for mutations in the NF2 gene and establish the importance of evaluating genomic dna from several tissues, in addition to lymphocytes, so as to identify mosaicism in "de novo" NF2 patients and their relatives. In addition, the demonstration of somatic and/or gonadal mosaicism is an important tool for accurate genetic counselling in families with sporadic cases of NF2.- - - - - - - - - - ranking = 0.35638719944064keywords = meningioma, meningiomas (Clic here for more details about this article) |
5/36. Tanycytic ependymoma in association with neurofibromatosis type 2.A rare case of tanycytic ependymoma associated with neurofibromatosis type 2 (NF2) is presented for the first time, with emphasis on its clinical course and histopathological features. A 30-year-old man had developed gait disturbance in his childhood, and harbored multiple tumors in spinal nerve roots, in the intradural extramedullary and intramedullary spinal cord. The spinal root tumor and intradural extramedullary tumor were histologically diagnosed as schwannoma and meningioma, respectively. magnetic resonance imaging showed two intramedullary cystic lesions, one in the cervical and the other in the thoracic spine. Because his sensorimotor dysfunction in the lower extremities continued to worsen gradually, three of the multiple nodular tumors in the thoracic cystic lesion were removed. All three tumors were composed of eosinophilic piloid cells with modest nuclear pleomorphism. No Rosenthal fibers were found. A concentration of slender eosinophilic cellular processes surrounding the vascular wall was seen. periodic acid Schiff and Masson trichrome-positive balloons were seen in the extracellular space. Detection of ependymal rosettes, although only few in number, led the diagnosis as a tanycytic ependymoma. Recognition of this ependymoma variant should be emphasized to avoid confusion with pilocytic astrocytoma or intramedullary schwannoma.- - - - - - - - - - ranking = 0.28722560111873keywords = meningioma (Clic here for more details about this article) |
6/36. Spinal tanycytic ependymoma associated with neurofibromatosis type 2--case report.An 18-year-old girl with a 5-year history of neurofibromatosis type 2, consisting of bilateral acoustic tumors and a meningioma at the planum sphenoidale, presented with an intramedullary mass at the T-1 level, and underwent total removal of the tumor. Histological examination showed that the tumor consisted of markedly elongated spindle-shaped cells, which were immunopositive for S-100 protein and glial fibrillary acidic protein. Ultrastructural examination showed microvilli-lined lumina and prominent intercellular junctions, which were characteristic ependymal features. These findings were compatible with the diagnosis of tanycytic ependymoma. This rare subtype of ependymoma appears to arise through inactivation of NF2, in addition to some typical ependymomas.- - - - - - - - - - ranking = 0.28722560111873keywords = meningioma (Clic here for more details about this article) |
7/36. Fibrous meningioma in a patient with von hippel-lindau disease: a genetic analysis.meningioma has been included in the constellation of tumors associated with von Hippel-Lindau (VHL) disease in previously published reports. It is unclear whether these tumors are an uncommon component of VHL disease or are more readily detected in these patients because of the frequency with which they undergo central nervous system imaging as part of the routine management of VHL disease. The authors report the case of a patient with VHL disease in whom a progressively enlarging supratentorial mass developed and was diagnosed as a hemangioblastoma because of its appearance on serial magnetic resonance images. At surgery the tumor displayed the typical features of a meningioma and was given the histological diagnosis of fibrous meningioma. Single-stranded conformational polymorphism analysis of the tumor dna revealed a loss of heterozygosity at the neurofibromatosis Type 2 gene locus, known to be associated with sporadically occurring meningiomas. Despite this finding, the VHL gene locus on the allele from the patient's unaffected parent was normal. Thus it is unlikely that the occurrence of this patient's fibrous meningioma was associated with underlying VHL disease. Given the high frequency of neuroimaging sessions in patients with VHL disease, some supratentorial lesions that have been given radiological diagnoses of hemangioblastomas may be incidental meningiomas.- - - - - - - - - - ranking = 2.7233536067124keywords = meningioma, meningiomas (Clic here for more details about this article) |
8/36. Mixed tumour of schwannoma and meningioma in a patient with neurofibromatosis-2 : a case report.The co-existence of schwannoma and meningioma as a mixed intracranial tumour is uncommon and so far only eight cases have been published in the literature. Because of rarity, we report a unique case of mixed tumour having schwann cell and meningeal components, in a patient with neurofibromatosis type -2 (NF-2). The possible mechanisms for the occurrence of these mixed tumours are discussed.- - - - - - - - - - ranking = 1.4361280055936keywords = meningioma (Clic here for more details about this article) |
9/36. Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.Neurofibromatosis type 2 (NF2) must be suspected in patients presenting with a unilateral vestibular schwannoma at a young age who are therefore at theoretical risk of developing bilateral disease. We identified 45 patients aged 30 years or less at the onset of symptoms of a unilateral vestibular schwannoma. Molecular genetic analysis of the NF2 gene was completed on peripheral blood samples in all 45 and on 28 tumour samples. No pathogenic NF2 mutations were identified in any of the blood samples. NF2 point mutations were identified in 21/28 (75%) tumour samples and loss of heterozygosity (LOH) in 21/28 (75%) tumour samples. Both mutational hits were identified in 18/28 (65%) tumour samples. In one multilobular tumour, one (presumably first hit) mutation was confirmed which was common to different foci of the tumour, while the second mutational event differed between foci. The molecular findings in this patient were consistent with somatic mosaicism for NF2 and the clinical diagnosis was confirmed with the presence of two meningiomas on a follow up MRI scan. A further patient developed a contralateral vestibular schwannoma on a follow up MRI scan in whom neither of the truncating mutations in the vestibular schwannoma were present in blood. It is important when counselling patients with unilateral vestibular schwannomas to identify (1) those at risk of bilateral disease, (2) those at risk of developing other tumours, and (3) other family members at risk of developing NF2. Comparing tumour and blood dna cannot exclude mosaicism in the index case and cannot, therefore, be used to predict those at risk of developing further tumours. However, identification of both mutations or one mutation plus LOH in the tumour and exclusion of those mutations in the blood samples of the sibs or offspring of the affected case may be sufficient to render further screening unnecessary in these relatives.- - - - - - - - - - ranking = 0.35638719944064keywords = meningioma, meningiomas (Clic here for more details about this article) |
10/36. Neurofibromatosis type 2--the importance of serial imaging of the brain and spinal cord.Meningiomas and schwannomas are relatively common central nervous system neoplasms, but patients harbouring multiple meningiomas or schwannomas are rare. We present the case of a 27 year-old patient with Neurofibromatosis type 2 with multiple associated intracranial meningiomas and spinal cord neurofibromas at various levels. patients with Neurofibromatosis type 2 should be followed up for life with serial magnetic resonance imaging of the brain and spinal cord to detect new and recurrent tumours at these sites.- - - - - - - - - - ranking = 0.71277439888127keywords = meningioma, meningiomas (Clic here for more details about this article) |
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