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)

This is a follow-up study of 96 patients with pineal tumors, except for one patient who was lost to follow-up. 60 of these tumors were verified histologically either at operation or at necropsy, 6 were diagnosed by epitheloid cells existing in the cerebrospinal fluid, and 30 were diagnosed by clinical and ventriculographic findings. In agreement with Russell and Rubinstein, we have classified the histologically verified tumors into 3 groups, as follows; 1. True Pinealoma Group (Pineocytoma, Pineoblastoma), 2. Germinoma-Teratoma Group, 3. Others (Glioma, Cyst). The following points need to be emphasized in the planning of management: 1. Pinealoma (Two cell pattern pinealoma) responds favorably to radiation therapy. 18 of 43 patients of pinealomas who were treated with irradiation are functioning normally in various life situations for more than 5 years. Among them, 5 cases of pinealomas treated with irradiation alone have more than 10 years survivals. 2. There is a limitation in the efficacy of irradiation therapy in cases of spinal cord implantation, infiltration in adjacent structures or subependymal infiltration along the ventricular cavity. 3. Only 2 of 67 patients with pinealomas had spinal cord metastasis. It seems undesirable to subject all patients to complete cerebrospinal axis irradiation. 4. Successful removal were performed in 4 patients with teratomas and are now alive for 9-21 years. None of them, however, are doing well clinically with many neurological deficits. 5. Since adenocarcinoma, teratocarcinoma, teratoblastoma and others are not sensitive to radiation therapy, only the palliative treatments are available. 6. Therefore, the most promising treatments for pineal tumors is that irradiation, plus shunting operation when required, is a first choice and after irradiation, radical removal should be tried in the case of teratoma diagnosed by clinical and ventriculographic findings.
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PMID:[Radiation therapy and surgical management of pineal tumors--follow-up study of 96 patients (author's transl)]. 94 67

Primary germ cell tumors confined to the optic nerves and chiasm without suprasellar extension are uncommon. These tumors appear similar to chiasmatic gliomas on both computed tomography and magnetic resonance imaging, potentially resulting in treatment errors if the diagnosis is based on radiologic criteria alone. Unlike chiasmatic gliomas, suprasellar germinomas characteristically present with a clinical triad of endocrine abnormalities, diabetes insipidus, and visual complaints. We report the case of a 9-year-old boy who presented with a 5-month history of fatigue, 16-pound weight gain, polydipsia, polyuria, visual complaints, and intermittent headache. Imaging studies demonstrated findings consistent with a glioma of the chiasm with infiltration into the optic tracts. At surgery, the chiasm and optic tracts were diffusely enlarged with no other suprasellar abnormalities. Biopsy specimens were characteristic of germ cell tumor. Based on this result, the patient received a treatment regimen different from that used at our institution for chiasmatic gliomas. We feel it is imperative to biopsy chiasmatic lesions that radiologically appear to be gliomas if symptoms do not adhere to the classical clinical presentation.
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PMID:Primary diffuse chiasmatic germinomas: differentiation from optic chiasm gliomas. 749 60

A case of tectal glioma with mild choked disc is reported. An 11-year-old boy was admitted to our hospital because of visual disturbance and choked disc. Neurologically, the patient had nothing but choked disc. Magnetic resonance imaging (1.5T) was performed. Relative T1 weighted image showed a lesion of low signal intensity, and T2 weighted image showed high intensity, about 1.0 x 1.0 cm in size, at the pineal region. The sagittal view showed a mass at the tectum, and stenosis of the aqueduct. It was diagnosed as tectal glioma. Left occipital craniotomy was performed and the tumor was removed subtotally. Histological examination demonstrated a fibrillary astrocytoma. Radiochemotherapy was performed postoperatively. Tectal glioma is very rare. The differential diagnosis from germ cell tumor or pineal cyst is essential for treatment. The authors performed an operation in order to remove the tumor and determine the course of treatment.
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PMID:[A case of tectal glioma]. 825 83

In the present study we investigated the frequency of p16 gene exon 2 mutations in 35 malignant gliomas, using either direct sequencing of the PCR products or cloning into the pCRII vector and sequencing of the cloned PCR products. No mutations were detected during direct sequencing of the PCR products. However, after sequencing of individual clones, we found multiple mutations in 5 tumors involving codons 73(GCC to ACC, Ala to Thr), 76 (GCC to GTC, Ala to Val), 85(GCT to ACT, Ala to Thr), 98(CAC to TAC, His to Tyr), 102 (GCG to GTG, Ala to Val), 106 (GTG to ATG, Val to Met), 107 (CGC to TGC, Arg to Cys), 127 (GCA to GTA, Ala to Val), 128 (CGG to TGG, Arg to Trp) and 136 (GGC to GAC, Gly to Asp). Mutations were found only in glioblastomas and were either C to T or G to A transitions. Each mutation was detected in a small percentage of tumor cells (1.3-22%) using individual colony sequencing and southern hybridization with mutant oligonucleotides, consistent with the heterogenous cell population of glioblastomas. The presence of p16 gene mutations only in glioblastomas suggests that they are late events in glioma development.
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PMID:Mutations of the p16 gene in gliomas. 855

Using a rat S100A1 cDNA probe, S100A1 expression has been documented in rat C6 glioma cells, a cell line previously thought to express only the S100B protein. To identify the molecular mechanisms which target S100A1 gene expression to specific cell types, the rat S100A1 gene was cloned, and functional analysis of the 5' flanking region of the gene was performed. The rat S100A1 gene was located in an 8.5 kb BamHI genomic fragment which contained 3 exons plus 1.6 kb of 5'-upstream and 0.37 kb of 3'-downstream flanking sequence. A single transcription initiation start site and a single polyadenylation signal were identified in this gene. A number of potential regulatory consensus sequences were identified in the rat S100A1 gene including general transcription factor binding sequences (TATA box, GC box and CCAAT box), cAMP regulated sequences (CRE), skeletal muscle specific sequences (E-box and M-CAT), an S100 protein element, and a (GCT) trinucleotide repeat. Analysis of an S100A1 promoter-CAT construct by ribonuclease protection assay demonstrated that this gene is functional in three S100A1 expressing cell lines, C6 cells, PC12 cells and L6 cells. CAT constructs containing progressive deletions of the S100A1 promoter region revealed a positive regulatory element in skeletal muscle (L6) cells between -1600/-1081. The fact that these same sequences were negative in glial (C6) cells and neutral in neuronal (PC12) cells suggests that this region plays a major role in targeting S100A1 expression to specific cell types. The -1081/+10 region contained both positive and negative elements, some of which were cell-type specific. Thus, S100A1 expression is under complex transcriptional control which involves positive and negative elements as well as cell type specific elements.
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PMID:Expression of the rat S100A1 gene in neurons, glia, and skeletal muscle. 879 2

In recent years, there is increasing recognition of polyphenotypic high-grade malignancies in the non-central nervous system (CNS) tumor literature. Some of these tumors have been regarded as variants of primitive neuroectodermal tumor (PNET) or as extrarenal malignant rhabdoid tumors (MRTs). This report concerns two posterior fossa neoplasms, both of which displayed a "polyphenotypic" expression of neural, epithelial, myogenic, and glial markers, including synaptophysin, neurofilament, vimentin, glial fibrillary acidic protein, S-100, neuron-specific enolase, desmin, S antigen, MIC2, cytokeratin, epithelial membrane antigen, and carcinoembryonic antigen. One tumor showed complex intercellular junctions, cytoplasmic intermediate filaments, well-developed rough and smooth endoplasmic reticulum and Golgi apparatus, cilia, and neurosecretory granules. The other neoplasm showed pools of glycogen, desmosomes, and tonofilaments. The histological and ultrastructural appearances were inconsistent with glioma, PNET, meningioma, ependymoma, choroid plexus carcinoma, sarcoma, germ cell tumor, and other tumors in the World Health Organization classification. Although the polyphenotype raises the issue that these may represent variants of MRT or the atypical teratoid-rhabdoid tumor, the morphologic findings in the two cases were very dissimilar. Our two cases underscore the problems in nosology and classification of polyphenotypic tumors of the CNS. This is particularly significant, as therapeutic protocols for PNET, MRT, and non-CNS polyphenotypic tumors are different. We review the literature on polyphenotypic tumors and reiterate the difficulties in precise classification of these complex tumors.
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PMID:"Polyphenotypic" tumors in the central nervous system: problems in nosology and classification. 918 18

Mxi1 is thought to negatively regulate Myc function and may therefore be a potential tumor suppressor gene. Little effort has yet been made to find alterations involving this gene in human solid tumors. We screened 31 human gastric cancers, 7 esophageal cancers, 85 bone and soft tissue tumors of various types, including 4 neurofibrosarcomas. We also examined 29 human tumor cell lines consisting of 12 esophageal cancers, 7 glioma/glioblastomas and 10 others for Mxi1 mutations in exons 1, 2, 4 (HLH domain), 5 and 6. Polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and subsequent sequencing revealed three distinct polymorphisms in the intron-exon boundary upstream from exon 6. We discovered a missense mutation, GCA to GTA (Ala 54 Val), in exon 2 in a neurofibrosarcoma patient (case 1), two missense mutations, AAA to CAA (Lys 118 Gln) and GAA to GGA (Glu 154 Gly) in exon 5 of another neurofibrosarcoma patient (case 2), and 3 amino acid substitutions, GTG to GCG (Val 179 Ala), GTT to GCT (Val 181 Ala) and TTC to CTC (Phe 186 Leu), in a third neurofibrosarcoma patient (case 3). In case 3, loss of heterozygosity was also demonstrated by informative (TTC)3/(TTC)2 polymorphism. Our data demonstrate that mutations occur in the Mxi1 gene in neurofibrosarcoma. Missense mutations in the functional domain of Mxi1 in these cases may be involved in the pathogenesis of neurofibrosarcoma.
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PMID:Mxi1 mutations in human neurofibrosarcomas. 1047 Feb 86

Patients with suprasellar lesions develop profound hypothalamic obesity and listlessness with no effective treatment. We added triiodothyronine (T(3)) supplementation in 3 such patients and present their response. All had previous nutritional counseling without benefit. All were treated for diabetes insipidus (DI) and hypopituitarism; serum free thyroxine (T(4)) level was normal. A 24-year-old woman (pineal tumor and astrocytoma) had weight gain (4.7 kg/yr for 3 years), cold intolerance, fatigue, dry skin, and constipation; after T(3), she lost 14 kg over 27 months and reported overall improvement. Her bone mineral density also improved. A 10.6-year-old boy (optic glioma) was gaining 6 kg/yr for 4 years; after T(3) supplement, he lost 4.3 kg over 11 months. A 12-year-old girl (mixed germ cell tumor) had weight gain (8.3 kg/yr for 3 years) and listlessness; after T(3), she lost 8.1 kg over 16 months and had improved alertness. All patients were asymptomatic despite supraphysiologic T(3) levels. We suggest that T(3) may serve as a simple and effective supplement, which can promote weight loss and improve the well being of these patients with hypothalamic obesity.
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PMID:Triiodothyronine supplementation for hypothalamic obesity. 1240 83

Intracranial germinomas arising primarily in the midbrain are extremely rare and only one case has been reported in the literature. A 15-year-old boy presented with headache, diplopia, unsteadiness and personality changes. Brain MRI showed a heterogeneous lesion in the midbrain. The pineal body region was free. The preoperative diagnosis included brain-stem glioma, metastasis and lymphoma. Stereotactic biopsy was permitted in order to take a specimen and the diagnosis of germinoma was established. The patient responded well to chemotherapy and radiotherapy. Germinoma should be included in the differential diagnosis of midbrain lesions. Preoperative diagnosis is difficult and biopsy is still needed for such lesions.
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PMID:Primary midbrain germinoma. 1532 41

In this study, we present statistical analyses of pineal tumors based on the data from Brain Tumor Registry of Japan. The most frequent tumor in the pineal region was germinoma, and it accounted for 49.2% of all pineal tumors; it was followed by pineocytoma (8.5%), glioma (6.5%), pineoblastoma (5.1%), malignant teratoma (5.2%) and teratoma (5.1%). Germinoma is most frequent among patients between 10 and 19 years of age, and there are some patients aged >30 years; however, there are few patients with choriocarcinoma, embryonal carcinoma, and yolk sac tumor who are aged >30 years. Pineoblastoma is most frequent among patients under 5 years of age, while pineocytoma is evenly distributed in patients between 10 and 60 years of age. The 5-year survival rate of germinoma was 89.4%, while those of embryonal carcinoma, yolk sac tumor and choriocarcinoma were 35.3, 37.3 and 58.1%, respectively.
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PMID:Statistical analysis of pineal tumors based on the data of Brain Tumor Registry of Japan. 1932 57


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