Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Meningioangiomatosis (MA) is a rare seizure-associated lesion of presumed hamartomatous or developmental origin. It is occasionally combined with a neoplasm, most commonly meningioma (MA-M). In the current study, we examined 24 cases (14 pure MA, 10 MA-M) using immunohistochemistry for merlin, protein 4.1 B, progesterone receptor (PR), and MIB-1, as well as FISH for NF2 and 4.1B gene dosages. Nine cases of MA-M (90%) had gene deletions (NF2/4.7B), protein losses (merlin/protein 4.1B), and/or PR positivity, with a similar or identical phenotype in both components. No PR positivity or gene deletions were seen in pure MAs, though merlin and/or protein 4.1B were immunonegative in six cases. Our data suggest that in most MA-Ms, the MA component is neoplastic, likely representing an exuberant perivascular pattern of spread from the meningioma, rather than an underlying hamartoma. This pattern of spread may be facilitated by meningiomas that are predominantly leptomeningeal or intracerebral in origin. It remains important to distinguish this pattern from true brain invasion, given the more ominous prognostic significance of the latter. In contrast, most perivascular spindled cells of pure MA are genetically and immunohistochemically similar to non-neoplastic meningothelial cells, consistent with current histogenetic theories.
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PMID:Insights into meningioangiomatosis with and without meningioma: a clinicopathologic and genetic series of 24 cases with review of the literature. 1577 37

A 7-year-old boy presented with headache, visual disturbance, and psychomotor seizures persisting for 7 months. He had mild hemiparesis and homonymous hemianopia on the left. Neuroimaging showed bilateral temporal lobe masses with calcification and cysts. The right temporal mass was subtotally resected. The histological diagnosis was pilocytic astrocytoma with ependymal differentiation and a MIB-1 staining index of up to 8.0%. Postoperatively his hemiparesis and psychomotor seizures disappeared. Adjuvant chemotherapy consisting of carboplatin and vincristine was given followed by radiotherapy. Neuroimaging showed that the bilateral tumors had disappeared and showed no recurrence for 29 months after the diagnosis. Pilocytic astrocytoma usually presents as a solitary mass in the cerebellum or optic pathway with low proliferative activity, but should be included in the differential diagnosis of multifocal tumors arising in the bilateral temporal lobes. Ependymal differentiation with extremely high proliferative activity might be related to this unusual clinical presentation. Intensive treatment is recommended for patients with such specific neuroimaging and histological features.
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PMID:Multifocal pilocytic astrocytomas with ependymal differentiation in the bilateral medial temporal lobes: case report. 1612 60

Meningiomas of the ventricle system are extremely rare. We report on a series of 16 intraventricular meningiomas (IVMs) treated at our institution between 1980 and 2004, with a special interest on the surgical outcome of using the intra/inter-parietal and parieto-occipital approach and the benefits of neuro-navigation. A retrospective analysis of the medical files for clinicoradiological findings, surgical interventions and surgical outcome was carried out. In 16 IVM patients with a female/male ratio of 11:5, age ranged from 24 years to 84 years (median 44 years). Duration of symptoms ranged from a few days to several years, and the cardinal symptoms were signs of increased intracranial pressure (86%), followed by corticospinal tract signs (43%), visual field defects (36%), cognitive changes (29%) and seizures (7%). The majority of tumours was located in the trigone (88%), and one was found in each the temporal horn and in the fourth ventricle. Tumour size ranged from 2.5 cm to 8 cm (median 5 cm), and the radiological appearance was uniform. The neuropathological workup revealed most IVMs as meningothelial, transitional (mixed) or lymphoplasmacyte-rich meningiomas (81%). Three tumours were classified as atypical (19%) and the MIB-1 proliferation index ranged from 1% to 40%. Complete resection was possible in all but one case. The trigonal IVMs were resected via an intraparietal/inter-parietal or parieto-occipital approach, and neuro-navigation was used in eight tumours. We encountered one perioperative death and one severely disabled patient. All other patients had a Glasgow outcome scale score of 5, and most of the pre-existing symptoms disappeared or improved after surgery. IVMs are a surgically curable tumour entity in most cases. The intraparietal/inter-parietal and parieto-occipital approach is very safe, and neuro-navigation allows early devascularisation of the tumour.
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PMID:Intraventricular meningiomas: a report of 16 cases. 1618 6

The authors report on a patient with a large hypothalamic hamartoma with a cleft lip and palate and seizures. Neuroimaging revealed a large extraaxial, intradural mass in the prepontine and interpeduncular cisterns with significant distortion of the brainstem. A stereotactic transfontanel needle biopsy revealed a cellular lesion that contained immature-appearing neuroepithelial cells consistent with prior descriptions of hypothalamic hamartoblastoma. While having a low level of proliferation by Ki67 (MIB-1) labeling, the lesion also contained evidence of neuronal maturation, with many cells expressing neuronal nuclear antigen as observed during immunohistochemical analysis. Further clinical evaluation revealed no other significant congenital abnormalities, and the patient was discharged home. Outpatient follow up has continued for 2 years and the patient has been doing well, requiring no further treatment. This case illustrates that, despite its immature and proliferative histological appearance, this rare neonatal mass can be regarded as a "differentiating" hypothalamic hamartoma and can have a favorable prognosis.
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PMID:Neonatal hypothalamic hamartoma: a differentiating nonlethal hamartoblastoma. 1623 84

Papillary glioneuronal tumor (PGNT) has recently been identified as a new variant of mixed neuronal-glial tumors. We report the clinical and pathological features of PGNT in two Chinese patients. One patient was a 35-year-old man who suffered from intractable seizures for 16 years. Another was a 26-year-old woman who presented with headache for 2 years. In both patients, magnetic resonance imaging showed well demarcated, mixed cystic and solid tumor in the temporal lobe. Histology of the excised tumors revealed a pseudopapillary architecture surrounded by a glial component and intervening areas were occupied by neuronally differentiated cells. No cortical dysplasia was found in the neighboring cortex in one of them. The glial component showed immunoreactivity with glial fibrillary acidic protein and S-100 protein. Neuronally differentiated cells were immunolabeled by antisynaptophysin, NF, NeuN and MAP2 antibodies. Some small cells surrounding the surface of the pseudopapillae and in the compact area were immunopositive for Olig2. The MIB-1 labeling index was < 3%. The tumor did not recur within the follow-up periods of 50 months and 13 months, and the patient with temporal lobe epilepsy became seizure-free after surgery.
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PMID:Papillary glioneuronal tumor: a clinicopathological and immunohistochemical study of two cases. 1677 Nov 82

Diffuse astrocytomas are classified as WHO Grade II tumors. Recently, a subtype presenting with better prognosis has been proposed, and it is known as "isomorphic astrocytoma." A clinical case that we encountered was believed to be categorized as this subtype; it has been presented in this report. The patient was a 20-year-old male with a chief complaint of intractable epileptic seizures. He experienced his first attack at 16 years of age in July 2001, and it was a generalized seizure. Anticonvulsants prescribed by a previous doctor had no effect on controlling the seizures. MRI performed in March 2004 showed a lesion approximately 2.0 cm in diameter in the left temporal lobe. The patient was referred to our institution for further investigation of the lesion and therapy. Electroencephalography and magnetoencephalography were used to assess the lesion at seizure focus. The tumor was resected under awake surgery. The pathological diagnosis was diffuse astrocytoma, but this tumor was considered to be the isomorphic subtype. Some parts of the tumor showed a relatively high MIB-1 labeling index (LI) of 9.2%, and additional 50-Gy radiotherapy was performed. The postoperative course was uneventful and despite decreasing the anticonvulsant dosage, he has remained seizure free. Isomorphic astrocytoma is characterized by prolonged epileptic seizures, a low MIB-1 LI, and better prognosis. In our case, since the MIB-1 LI was higher in some parts of the tumor, the appropriate therapy for WHO Grade II tumors was performed. However, this case was considered representative of isomorphic astrocytoma. No reports of this tumor subtype have been previously described in Japan. Therefore, this report is the first case of isomorphic astrocytoma reported to Japanese literature.
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PMID:[Operative case of isomorphic astrocytoma]. 1771 25

Angiocentric glioma has recently been described as a novel epilepsy associated tumor with distinct clinico-pathologic features. We report the clinical and pathologic findings in 8 additional cases of this rare tumor type and extend its characterization by genomic profiling. Almost all patients had a history of long-standing drug-resistant epilepsy. Cortico-subcortical tumors were located in the temporal and parietal lobes. Seizures began at 3 to 14 years of age and surgery was performed at 6 to 70 years. Histologically, the tumors were characterized by diffuse growth and prominent perivascular tumor cell arrangements with features of astrocytic/ependymal differentiation, but lacking neoplastic neuronal features. Necrosis and vascular proliferation were not observed and mitoses were sparse or absent. MIB-1 proliferation indices ranged from <1% to 5%. Immunohistochemically, all cases stained positively for glial fibrillary acidic protein, vimentin, protein S100B, variably for podoplanin, and showed epithelial membrane antigen-positive cytoplasmic dots. Electron microscopy showed ependymal characteristics in 2 of 3 cases investigated. An analysis of genomic imbalances by chromosomal comparative genomic hybridization revealed loss of chromosomal bands 6q24 to q25 as the only alteration in 1 of 8 cases. In 1 of 3 cases, a high-resolution screen by array-comparative genomic hybridization identified a copy number gain of 2 adjacent clones from chromosomal band 11p11.2 containing the protein-tyrosine phosphatase receptor type J (PTPRJ) gene. All patients are seizure free and without evidence of tumor recurrence at follow-up times ranging from 1/2 to 6.9 years. Our findings support 2 previous reports proposing that angiocentric glioma is a novel glial tumor entity of low-grade malignancy.
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PMID:Angiocentric glioma: report of clinico-pathologic and genetic findings in 8 cases. 1805 28

We describe diffuse glioma-like infiltrates in excised tubers in five out of forty Tuberous sclerosis complex (TSC) patients undergoing excision of a tuber at our institution within the last 10 years. All patients presented with refractory seizures. Resection specimens from four patients had the pathognomonic histologic features of neuroglial hamartomas (tubers) and in one case there was cortical microdysgenesis lacking cells typical of TSC. All lesions were associated with an infiltrate of atypical, mostly elongate, glioma-like small cells, which were immunoreactive for GFAP in three, and pS6 (a marker for activity of the mTOR pathway), in two cases. MAP-2 and CD34, were negative and MIB-1 (Ki67) immunostains ranged from <1-21%. Array-based comparative genomic hybridization revealed that these proliferative phenomena were associated with 21 different copy number aberrations in comparison with a tuber without atypical infiltrates. Postoperatively (follow-up period ranging from 8 to 34 months) none of the patients have any evidence of a glioma. We report that tubers resected for treatment of seizures are sometimes associated with glioma-like lesions, which are indistinguishable from infiltrating gliomas by morphology and immunohistochemistry. Genomic analysis with SNP arrays revealed copy number changes which may be associated with the pathogenesis of such infiltrates.
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PMID:Glioma-like proliferation within tissues excised as tubers in patients with tuberous sclerosis complex. 1858 Nov 25

We report a papillary glioneuronal tumor occurring in the right frontal lobe of a 26-yr-old woman and we review the pertinent literature. Papillary glioneuronal tumor (PGNT) is a rare cerebral neoplasm, identified in approximately 37 cases to date. In 2007, the World Health Organization (WHO) classified the PGNT as a grade I neuronal-glial tumor because of its biphasic neurocytic and glial components and indolent clinical course. Patients commonly present with headaches or seizures, but may be asymptomatic with the mass discovered incidentally upon neuroimaging. Histology demonstrates a pseudopapillary architecture with a single or a pseudostratified layer of glial cells overlying hyalinized vasculature with interpapillary regions of neurocytic or ganglion cells. Peripheral eosinophilic granular bodies, Rosenthal fibers, hemosiderin, and areas of calcification are often noted. The PGNT displays moderate cellularity and is typically devoid of necrosis, microvascular proliferation, and mitoses. Its immunohistochemical profile includes glial fibrillary acidic protein (GFAP)-positive glial cells, synaptophysin-positive interpapillary neurocytes, and MIB-1 labeling in the range of 1-2%.
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PMID:Papillary glioneuronal tumor: a case report and review of the literature. 1871 60

A 34-year-old man presented with a case of anaplastic ganglioglioma with malignant features in both neuronal and glial components manifesting as seizure episodes over 11 months. The tumor was subtotally removed, followed by irradiation and chemotherapy. The histological diagnosis was anaplastic ganglioglioma. Atypical cells were morphologically estimated as glial and neuronal cells. Though these cells were weakly positive for synaptophysin and glial fibrillary acidic protein, the neural stem cell marker nestin was extremely expressed in both these cells. The MIB-1 index was 15%. Two months later, the tumor recurred with more pleomorphic appearance and higher cellularity with increased nestin expression level. Mitotic cells and multinucleated cells were found in the neuronal components. Cytological examination found dissemination to the leptomeningeal space. The patient died 6 months after the first surgery. This rare case of anaplastic ganglioglioma with both neuronal and glial components, which were extremely positive for nestin, showed progressive worsening of the clinical course. The expression of nestin may suggest that the origin or malignant transformation in anaplastic gangliogliomas is related to the undifferentiated neural stem cells.
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PMID:Anaplastic ganglioglioma with malignant features in both neuronal and glial components--case report. 2033 74


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