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)

A case of pleomorphic xanthoastrocytoma, the first case in Japan, is reported. This is a 25-year-old woman with a history of convulsive seizures which were initiated on her left arm 13 years prior to admission, On admission, physical and neurological examinations revealed no abnormalities. CT-scan disclosed a large well-defined low density area in the right fronto-temporal region. A small peripheral portion of the low density area was enhanced by contrast media. The high density area located immediately beneath the inner table of the skull. Right carotid angiogram showed a large avascular area corresponding to the cystic lesion. At the operation, there was a mural nodule in the frontal cortex involving the leptomeninges. The tumor was relatively soft and was milky-white in color. Under this tumor was a large cyst containing xanthochromic fluid. The mural nodule was totally removed and the cyst was widely opened. Postoperative course was uneventful and she received a radiation therapy (5500 rads). She was discharged without any neurological deficits. Histologically, the tumor was highly cellular. The tumor cells were markedly pleomorphic showing bizarre giant cells and multinucleated cells. However, tumor necroses and mitotic figures were absent. With immunoperoxidase method and PTAH stain, these tumor cells were confirmed to be astrocytic. In some areas, tumor cells were surrounded by reticulin fibers. Many tumor vessels presented marked hyalinous degeneration. By electron microscopy, many tumor cells contained lipid droplets. This case was considered to be pleomorphic xanthoastrocytoma (Kepes). Pleomorphic xanthoastrocytoma was designated by Kepes et al in 1979 as a new tumor entity. They described clinical and pathological characteristics of this tumor as follows. The age of the patients were young and the tumors were frequently cystic. The tumors were superficially located in the brain and involved the leptomeninges. Despite marked nuclear pleomorphism, mitotic figures of the tumor cells or necroses were rare. In contrast to their pleomorphic cytology, the biological behavior of this tumor appeared to be favorable. The authors stressed the clinical and pathological significance of this tumor. Because, this is the tumor with malignant appearance in light microscopy, but with favorable prognosis.
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PMID:[A case of pleomorphic xanthoastrocytoma (Kepes) (author's transl)]. 734 81

Pleomorphic xanthoastrocytoma (PXA) is a rare glial tumour typically occurring in young patients in the first three decades, having a superficial cortical location and with a relatively good prognosis for long-term survival. Four cases are reviewed. The magnetic resonance imaging (MRI) appearances, which in PXA have been reported only once before, are described in three cases. The fourth case was studied by computed tomography and angiography. One patient developed seizures at age 2 days and was aged 2 1/2 years at presentation. This is the youngest patient with PXA yet reported. Three of the four patients had seizures, but in one case the tumour was not the cause of the seizures. Review of the literature has revealed 47 reported cases. Mean age at presentation was 14.3 years. Epilepsy occurred in 78%. Seventeen patients were alive without recurrence at a mean of 7.9 years after diagnosis and 10 patients died at a mean of 7.4 years after diagnosis. Thirteen cases had recurrence at a mean of 6 years after surgery and in five instances the recurrence was in the form of a glioblastoma. Resections which were grossly total were less likely to develop recurrence than those which were subtotal. Complete gross resection of tumour offers the best therapeutic option in PXA.
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PMID:Pleomorphic xanthoastrocytoma--report of four cases, with MRI scan appearances and literature review. 771 64

Six cases of Pleomorphic Xanthoastrocytoma of central nervous system are presented. One case presented with recurrent refractory seizures and others as intracranial space occupying lesions. They were located in temporal/parietal lobes, were partly cystic and partly solid on CT scan, enhancing with contrast. Histopathology was characterized by pleomorphic giant cells and cells with vacuolated cytoplasm. Glial fibrillary acidic protein was strongly positive in all the cases.
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PMID:Pleomorphic xanthoastrocytoma--a clinicopathological study. 1121 88

Pleomorphic xanthoastrocytoma (PXA) is a rare, superficially situated tumor that most frequently occurs in the temporal lobe of young adults and is often associated with seizures. It generally has a relatively favorable prognosis. Prior studies have shown that TP53 mutations may occur in up to 25% of PXAs, suggesting that PXA may have an etiology similar to diffuse astrocytoma rather than pilocytic astrocytoma. In the present study, we performed immunostaining for p53 protein and examined the mutation status of exons 5-8 of the p53 gene in 55 PXAs, 8 of which had undergone one or multiple recurrences. Of 55 primary PXAs, 35 (64%) showed staining in <1% of tumor cells, 15 (27%) in 1-10%, 4 (7%) in 11-50%, and only 1 (2%) in >50%. No significant increase in p53 protein expression was noted in recurrences, even when associated with increased histological anaplasia. We found a TP53 heterozygous mutation in exon 7 in 1 of 47 primary tumors that yielded useable DNA, and in its recurrence 3 years later. This tumor, a grade II PXA, did not show signs of anaplastic transformation at recurrence. Eleven additional recurrences from 7 patients, 5 of which showed signs of histological anaplasia, did not show TP53 mutations in exons 5-8. Based on our data, the p53 mutation appears to be an uncommon (2%) genetic event in PXA formation and does not appear to be involved in tumor progression. Consequently, our findings suggest that the genetic events that underlie PXA formation differ from those involved in diffuse astrocytoma.
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PMID:Analysis of p53 mutation and expression in pleomorphic xanthoastrocytoma. 1152 67

Pleomorphic xanthoastrocytoma (PXA) is an uncommon tumor, often seizure-associated and occurring in the temporal lobe of young adults. Although its cells are considered astrocytic in nature, recent studies suggest the presence of neuronal differentiation and a possible relationship to glioneuronal neoplasms. We immunostained 40 cases of PXA, including two composite PXA-gangliogliomas (PXA-GG), with a panel of glial (glial fibrillary acidic protein, S-100 protein) and neuronal markers (class III beta-tubulin, synaptophysin, neurofilament proteins, MAP2, and chromogranin A). Conventional PXAs demonstrated immunoreactivity for glial fibrillary acidic protein (100% of cases), S-100 protein (100%), class III beta-tubulin (73%), synaptophysin (38%), NF proteins (18 and 8%), and MAP2 (8%). Chromogranin A stain was absent in all conventional PXA cases. Neoplastic ganglion cells in both PXA-GGs stained with class III beta-tubulin, synaptophysin, and chromogranin A. Ultrastructural studies, performed in nine cases, demonstrated neuronal features including microtubules, dense core granules, and/or clear vesicles largely limited to cell processes (two PXAs) and in the cytoplasm (PXA component of one PXA-GG). Although the essential nature of PXA is clearly and uniformly glial, the significance of the limited neuronal differentiation is unclear, as it is the relationship between conventional PXA and PXA-GG. We found no evidence that the former is a precursor of the latter.
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PMID:Immunophenotype of pleomorphic xanthoastrocytoma. 1191 26

Pleomorphic xanthoastrocytoma (PXA) is a very rare tumor of an astrocytic origin (prevalence rate: less than 1%). Four PXA cases studied by the authors are reported: one female and three male patients aged from 17 to 31 years. Seizure disorder was the initial presentation in all four cases--2 patients suffered from a single epileptic fit, while the other 2 patients had a long epileptic history of 6 and 25 years. CT and MRI scans revealed tumors located in the temporal (3 cases) and parietal lobes (1 case). In 3 cases the tumor had a cystic part. All the patients underwent surgery--in all the cases a gross total removal was achieved. All four patients did well after surgery. Postoperative radiotherapy was administered in 2 cases. At a follow-up ranging from 9 months to 3.1 years all the patients remained in a good neurological condition, 3 of them were free from epilepsy, while one patient still suffered from epileptic seizures, but their frequency was lower. Observation of the PXA patients after the surgical treatment showed a good outcome--they were free from epileptic seizures.
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PMID:[Pleomorphic xanthoastrocytoma: clinical symptoms, treatment, outcome]. 1459 56

Pleomorphic xanthoastrocytoma (PXA) is a superficially located, rare glial tumour first described in 1979. It affects young patients, who often present with seizures. The tumour has a relatively favourable prognosis, but 15-20% progress to malignancy. We describe two cases of PXA, both with benign features at presentation, one of which underwent anaplastic transformation. Surgery remains the mainstay of treatment. Factors influencing clinical outcome include extent of resection, and histological features such as mitotic index, necrosis and lymphocytic infiltration. The roles of radiotherapy and chemotherapy remain undefined. We advocate lifelong follow-up and establishment of a central registry in order to further the understanding of this infrequently encountered tumour.
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PMID:Pleomorphic xanthoastrocytoma: report of two cases and review of the prognostic factors. 1473 86

Pleomorphic xanthoastrocytoma (PXA) is a rare primary brain tumor, which usually involves the superficial cortex in children and young adults. Although PXA is considered an astrocytic tumor, recent studies suggest the presence of neuronal differentiation and an origin from multipotential precursor cells. To clarify the clinicopathological characteristics, which have not been well established due to the rarity of this tumor, eight cases of histologically proven PXA were retrospectively analyzed, paying special attention to immunohistochemical findings and associated cortical dysplasia. Three males and five females of median age 17 years (range, 11-24 years) were enrolled in the study. All patients presented with epilepsy. Tumor sites included the temporal (n = 5), frontal (n = 2), and temporoparietal (n = 1) lobes. 18F-FDG PET (positron emission tomography) showed hypometabolism of PXA. Immunohistochemical study was performed in six cases using various antibodies for glial and neuronal markers. Gross total resection of the PXA was achieved in all cases. The follow-up period ranged from 7 to 14 years except for two recent cases. All patients are doing well with neither radiological nor clinical evidence of recurrence. The surgical treatment rendered all patients seizure free. The three temporal lobe PXAs were associated with cortical dysplasia. In one tumor, clusters of dysmorphic ganglion cells were found. All examined PXAs demonstrated immunoreactivity for both neuronal and glial markers in the various tumor cells. The immunohistochemical studies undertaken as a part of this study support the proposed astrocytic and neuronal differentiation of PXA, and indicate that PXA is probably a developmental neuroglial tumor with prominent glioproliferative changes associated with focal cortical dysplasia. Cortical dysplasia may be a cause of persistent epilepsy even after complete surgical excision of PXA.
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PMID:Pleomorphic xanthoastrocytoma: a developmental glioneuronal tumor with prominent glioproliferative changes. 1501 66

Pleomorphic xanthoastrocytoma (PXA) is a rare superficial glioma that predominates in the young and has good prognosis. A long history of repeated seizures is commonly associated with PXA, which is frequently observed in neuroimaging scans as a solid-cystic, contrast-enhancing lesion. We report a case in which PXA diagnosis was favored by its histological features, such as pleomorphic multinucleated giant cells, with disproportionately few mitoses and necrotic areas. An eye-catching feature was widespread, pale-staining, circumscribed deposits in the cytoplasm of tumor cells, which turned out to be glycogen upon histochemical and electron-microscopical examination. The stored material was strongly PAS-positive and digested by diastase, and had a finely granular ultrastructural appearance. No evidence of lipid droplets was found on oil-red-O staining. The tumor was immunoreactive for glial fibrillary acidic protein and vimentin. Many cells were positive for CD34 on the external membrane, a feature which has been described in chronic CNS lesions associated with epilepsy. Intracytoplasmic immunostaining for EGFR was observed in most tumor cells, which might have favored neoplastic proliferation. Nuclear immunolabeling for p53 protein was rare and does not support a major role for p53 mutation in PXA tumorigenesis. Intracellular accumulation of glycogen in glial tumors is uncommon and may originate from abnormalities in carbohydrate metabolic pathways.
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PMID:Temporal pleomorphic xanthoastrocytoma with glycogen accumulation--case report. 1866 39

Pleomorphic xanthoastrocytoma (PXA) is a recently recognized rare cerebral neoplasm that predominantly affects young patients. We report on the case of a 3-year-old boy who presented with a 2-week history of headaches and seizures. Radiological investigation revealed a lesion in the right parietal-occipital lobe. The lesion was excised and histology disclosed the presence of a PXA with anaplastic features. 1 year later follow-up magnetic resonance imaging (MRI) revealed tumor relapse. An MRI of the spine was also performed and demonstrated leptomeningeal dissemination. The patient underwent a second operation. Histology revealed that the presence of a malignant PXA with anaplastic features. The patient received radiotherapy and 9 months later on follow-up MRI a new tumor recurrence was noted. A third craniotomy was performed and the tumor removed. Histological examination revealed dedifferentiation to glioblastoma multiforme. The patient was referred to the oncology department and received chemotherapy with temozolamide. 8 months later the patient was stable without tumor recurrence. PXAs require close follow-up because of their unpredictable biological behaviour.
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PMID:Malignant progression of a pleomorphic xanthoastrocytoma in a child. 2079 53


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