Genes (49)
Species: human : 49 | |
Human | SOX6 | 55553 | SRY (sex determining region Y)-box 6 | In contrast, ependymal tumors (ependymoma and subependymoma), meningioma, and schwannoma, which are all well differentiated tumors, showed either no staining or only faint staining for SOX6. | Human | SPA17 | 53340 | sperm autoantigenic protein 17 | METHODS : The expression of Sp17 was assessed by means of a standardised immunohistochemical procedure [(mAb/antigen) MF1/Sp17] in formalin-fixed and paraffin embedded surgical specimens of NS malignancies, including 28 neuroectodermal primary tumours (6 astrocytomas, 16 glioblastoma multiforme, 5 oligodendrogliomas, and 1 ependymoma), 25 meningeal tumours, and five peripheral nerve sheath tumours (4 schwannomas, and 1 neurofibroma),. | Human | DNAJC15 | 29103 | DnaJ (Hsp40) homolog, subfamily C, member 15 | evidence of MCJ hypermethylation in intracranial primitive neuroectodermal tumours (PNETs) (medulloblastomas, supratentorial PNETs & ependymomas); data indicate epigenetic inactivation of MCJ may play a role in development of pediatric brain tumours | Human | EPB41L3 | 23136 | erythrocyte membrane protein band 4.1-like 3 | 4.1B gene deletion was statistically more common in ependymomas Our findings suggest that (1) NF2 and DAL-1 losses are involved in the pathogenesis of spinal and intracranial ependymoma subsets, respectively and (2) given the number of cases with no demonstrable losses, other cellular perturbations must also be critical for tumori-genesis. DAL-1, a related tumor suppressor and protein 4.1 family member on 18p11.3, has also been recently implicated in meningioma pathogenesis, though its role in ependymoma remains unknown. | Human | CHL1 | 10752 | cell adhesion molecule L1-like | The tumor cells were immunoreactive for vimentin and polysialylated neural cell adhesion molecule only, ruling out a diagnosis of ependymoma or medulloblastoma. | Human | OLIG2 | 10215 | oligodendrocyte lineage transcription factor 2 | METHODS AND RESULTS: We analysed OLIG2 expression in 60 oligodendroglial neoplasms (57 with and three without chromosome 1p aberration), 10 central neurocytomas, 10 clear cell ependymomas, nine dysembryoplastic neuroepithelial tumours (DNTs) and two clear cell meningiomas using immunohistochemistry. Eight of 10 central neurocytomas, all clear cell meningiomas and 8/10 clear cell ependymomas were negative for OLIG2. Olig2-immunohistochemistry is useful and potentially more reliable than the epithelial membrane antigen-immunohistochemistry for the diagnosis of ependymoma Two of 10 central neurocytomas and 2/10 clear cell ependymomas showed focal OLIG2 expression. | Human | MVP | 9961 | major vault protein | Expression of MVP/LRP was observed in 81.2% (56/69) of primary nervous system tumors, including astrocytomas (11/13), oligodendrogliomas (1/2), oligoastrocytomas (5/5), ependymoma (1/1), meningiomas (35/45), schwannomas (2/2), and neurofibroma (1/1). | Human | ZNF148 | 7707 | zinc finger protein 148 | A PDGFRA promoter polymorphism, which disrupts the binding of ZNF148, is associated with primitive neuroectodermal tumours and ependymomas. CONCLUSIONS: The specific over-representation of the H2delta haplotype in both patients with PNETs and ependymomas suggests a functional role for the ZNF148/PDGFRalpha pathway in the pathogenesis of these tumours. | Human | EZR | 7430 | ezrin | To assess the presence of this protein in human glial cells of the brain and its potential role in benign and malignant glial tumors, we studied ezrin immunoreactivity (IR), proliferation (MIB-1-IR), and apoptosis (terminal dUTP nick-end labeling) in normal human brain tissues from 10 autopsies and tissues from 115 cases of human glial tumors including astro-cytomas, ependymomas, oligodendrogliomas, and glioblastomas. Ezrin-IR was absent in normal oligodendrocytes and in oligodendrogliomas, but pronounced in normal ependymal cells and ependymomas. No expression was detected in gliomas and, except for hemangioblastomas, ezrin expression was restricted to those few CNS tumors that show epithelial differentiation, ie, choroid plexus papillomas, craniopharyngiomas, ependymomas, and cysts. | Human | TSC2 | 7249 | tuberous sclerosis 2 | | Human | TSC1 | 7248 | tuberous sclerosis 1 | | Human | TNFRSF1B | 7133 | tumor necrosis factor receptor superfamily, member 1B | MATERIALS AND METHODS: We investigated the NGF, BDNF, GDNF and NGF receptors (TrkA and p75) expression in the tumour tissues, cerebrospinal fluid (CSF) and plasma of ten children affected by low-grade astrocytomas and ependymomas. | Human | TERC | 7012 | telomerase RNA component | The proliferation index (PI) and telomerase RNA expression were significantly increased in grade III ependymomas (p < 0.0001 for PI and p = 0.0015 for hTR). Future studies examining the correlation of MIB-1 cell kinetics and hTR expression with clinical parameters in selected ependymoma subtypes are needed to determine the prognostic relevance of these markers. Expression of telomerase RNA component correlates with the MIB-1 proliferation index in ependymomas. We investigated the proliferative activity of 26 ependymomas as determined by MIB-1 immunolabeling and compared the results with the in situ expression of human telomerase RNA (hTR) and WHO tumor grade. | Human | SYP | 6855 | synaptophysin | Routine staining showed that it had structural similarities to an ependymoma, but immunohistochemistry with antisera to synaptophysin, NSE, chromogranin-A and PGP 9.5 proved it to be a neuroendocrine tumor, i.e. a paraganglioma. Since this tumour can be confused with an oligodendroglioma or an ependymoma on routine histopathology (as happened in seven of our cases); immunohistochemical studies with synaptophysin should be routinely performed for intraventricular glial tumours. Synaptophysin expression was studied in seven ;ependymomas; induced by transplacental administration of ethyl-nitrosourea in rats. Areas of ependymoma merged with others that displayed the appearance of a paraganglioma, including lobules and nests of chief cells immunoreactive for neuron-specific enolase, synaptophysin, chromogranin, and serotonin. The characteristic histopathologic picture, the immunoreactivity for both synaptophysin and neuron-specific enolase, and the ultrastructural features of neuronal differentiation distinguished it from ependymoma and oligodendroglioma. | Human | STAT3 | 6774 | signal transducer and activator of transcription 3 (acute-phase response factor) | Among the other tumors analyzed, medulloblastoma contained the highest level of Jak1 and Stat3, while ependymoma showed elevated levels of ShcA proteins. | Human | SOX9 | 6662 | SRY (sex determining region Y)-box 9 | SOX9 expression was predictive for favorable outcome in ependymoma | Human | SLC16A1 | 6566 | solute carrier family 16 (monocarboxylate transporter), member 1 | MCT1 immunoreactivity was strongest in ependymomas, hemangioblastomas and high grade glial neoplasms, and weakest in low grade gliomas. | Human | SHC1 | 6464 | SHC (Src homology 2 domain containing) transforming protein 1 | Among the other tumors analyzed, medulloblastoma contained the highest level of Jak1 and Stat3, while ependymoma showed elevated levels of ShcA proteins. | Human | SAG | 6295 | S-antigen; retina and pineal gland (arrestin) | No S-antigen and opsin-like immunoreaction was found in malignant teratomas and germinomas of the pineal gland, oat cell tumors, astrocytomas, ependymomas, oligodendrogliomas, glioblastomas, gangliogliomas, gangliocytoma, ganglioneuroblastomas, neuroblastomas, and esthesioneuroblastoma. | Human | S100P | 6286 | S100 calcium binding protein P | Immunostaining patterns of two glia-associated proteins, glial fibrillary acidic protein (GFAP) and S-100 protein (S100P), were compared using the peroxidase-antiperoxidase (PAP) method on adjacent paraffin sections in 100 brain tumors including 52 astroglial tumors, 13 oligodendrogliomas, 14 ependymomas, 13 choroid plexus papillomas and 8 medulloblastomas. | Human | RAP1A | 5906 | RAP1A, member of RAS oncogene family | Analysis of sporadic astrocytomas and ependymomas demonstrated either increased rap1 or reduced/absent tuberin protein expression in 50-60% of different cohorts of these gliomas, compared to 30-33% of sporadic schwannomas and meningiomas and none of eight oligodendrocyte tumors. | Human | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) | COX-2 is overexpressed in ependymomas | Human | PMS2 | 5395 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | | Human | PDGFA | 5154 | platelet-derived growth factor alpha polypeptide | The PDGF A-chain was expressed in all of the tumors, with the exception of the malignant ependymoma and in both nontumor glial cell cultures. | Human | NF2 | 4771 | neurofibromin 2 (merlin) | From an earlier study in a family in which four cousins developed an ependymoma, we concluded that an ependymoma-susceptibility gene, which is not the NF2 gene in 22q12, might be located on chromosome 22. Schwannomas and meningiomas, and to a lesser degree, ependymomas, express a high incidence of NF2 gene deletion, which supports the hypothesis that NF2 gene plays an important role in their tumorigenesis This rare subtype of ependymoma appears to arise through inactivation of NF2, in addition to some typical ependymomas. Only one mutation was detected, a single base deletion in NF2 exon 7 from a spinal ependymoma, which had also lost the wild-type allele. Our findings suggest that (1) NF2 and DAL-1 losses are involved in the pathogenesis of spinal and intracranial ependymoma subsets, respectively and (2) given the number of cases with no demonstrable losses, other cellular perturbations must also be critical for tumori-genesis. 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. |
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