Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017636 (glioblastoma)
 18,345 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of association of a brain tumor with multiple intestinal polyposis (Turcot's syndrome) and offer a critical analysis of the relevant literature with a view to revising the classification of the syndrome in relation to familial multiple polyposis and Gardner's syndrome. For this purpose, we considered only cases of intestinal polyposis associated with a primary neuroepithelial tumor (medulloblastoma, glioma, or glioblastoma) as originally described by Turcot. Differences emerged, depending on the central nervous system tumor type, which suggests that this neoplastic association may be classified as two distinct syndromes.
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PMID:Association between neuroepithelial tumor and multiple intestinal polyposis (Turcot's syndrome): report of a case and critical analysis of the literature. 184 39

Turcot's syndrome, the association of brain tumor (usually glioblastoma, medullo-blastoma, or astrocytoma) and colonic polyps, is a very rare condition of which about 20 cases have been reported. It has been described only once previously with cancer in a third organ system. In this paper, we report a child affected with colonic polyposis and astrocytoma (i.e., Turcot's syndrome) associated with intestinal non-Hodgkin's lymphoma.
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PMID:Turcot's syndrome with intestinal lymphoma in a child: an unusual case of triple tumor. 215 16

A case of Turcot's syndrome is described in an 8-year-old girl. Turcot's syndrome is a rare hereditary disease in which malignant glioma of the central nervous system is associated with colonic polyposis. The patient initially presented with a left parietal glioblastoma diagnosed by computed tomography (CT), and was subsequently found to have nonfamilial colonic polyposis.
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PMID:Turcot's syndrome: a new case in the first decade of life. 778 21

We report on a 12-year-old patient with Turcot Syndrome (Glioma polyposis). This patient's case deals with the association between a glioblastoma, anaplastic glioma (WHO Grade III) and colonic adenocarcinoma based on familial polyposis coli. Possible etiology and neurosurgical, clinically important characteristics of this rare syndrome, such as the young age of the patient and the relatively long survival time, will be discussed.
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PMID:The Turcot syndrome (glioma polyposis) and its neurosurgical significance. Case report. 812 48

Recent advancement of molecular biology disclose responsible genes of FAP(familial adenomatous polyposis) and HNPCC(hereditary non polyposis colorectal cancer). Gardner Syndrome is now categorized as subtype of FAP. Turcot Syndrome is now known as a heterogeneous disease. Turcot Syndrome caused by APC gene develops medulloblastoma and Turcot Syndrome caused by mismatch repair gene develops glioblastoma. Because of the discovery of APC gene, the presymptomatic diagnosis of asymptomatic gene carriers are now available and preventive surgery can be planned. FAP patients with mutated APC gene between codon 1250 and 1464 shows severe phenotype. It is known that FAP patient whose APC gene mutation locates at codon 1309 develops cancer 10 years earlier in comparison to the rest of the cases. Consequently risky rectal mucosa should be removed in this group of patients. As for HNPCC, presymptomatic diagnosis is still not possible because the penetrance rate has not been estimated yet and some additional responsible genes are expected to be discovered. Replication error, mutator phenotype of mismatch repair gene is useful indicator to predict second primary cancers. When the patient in a HNPCC family develops adenoma with microsatellite mistability, preventive colectomy might be one of the surgical option with the informed consent of the patient.
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PMID:[Molecular biological background of FAP and HNPCC, and treatment strategies of both diseases depend upon genetic information]. 969 69

Turcot syndrome is the association of colorectal polyposis with primary neuroepithelial tumors of the central nervous system such as glioblastoma and medulloblastoma. Including putative patients, more than 150 familial or sporadic cases of the syndrome have been reported in literature. Since early reports, there is considerable controversy regarding the modality of genetic transmission and the distinction from other syndromes like familial adenomatous polyposis(FAP). Recent molecular evidence suggests that Turcot syndrome could be divided into the following two entities based on the distinct genetic backgrounds. (1) True Turcot syndrome(autosomal recessive): Intestinal polyps are less in number(< 100), large in size and apt to transform to the malignant tumor. Brain tumor is mainly diagnosed as glioblastoma or astrocytoma and mismatch repair genes might be involved. (2) FAP-associated type(autosomal dominant): Predisposing to medulloblastoma.
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PMID:[Turcot syndrome]. 1092 28

Turcot's syndrome or the glioma polyposis syndrome is a rare variant of the polyposis syndrome and it is characterized by colonic polyposis and central nervous system neoplasm typically a glioblastoma or a medulloblastoma. We present a case of Turcot's syndrome in a child with malignant transformation.
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PMID:A case of Turcot's Syndrome in a child with malignant transformation. 1159 Apr 58

A 38-year-old man with a history of colonic and small bowel polyposis and glioblastoma was investigated for dyspepsia. Upper GI endoscopy identified an abnormal area in the duodenum, confirmed by histology as high grade non-Hodgkin's B cell MALT lymphoma. Although cases of Turcot's syndrome (TS) (colonic polyposis and primary brain tumour occurring in the same patient) have been previously described, association with haematological malignancy is rare. This is the first report of intestinal lymphoma occurring in an adult with TS.
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PMID:An unusual case of Turcot's syndrome associated with ileal adenocarcinoma, intestinal non-Hodgkin's lymphoma, and duodenal adenocarcinoma. Review of the classification and genetic basis of Turcot's syndrome. 1595 65

The phosphatase and tensin homolog tumor suppressor (PTEN) belongs to a class of "gatekeeper" tumor suppressors together with p53, retinoblastoma and adenomatous polyposis. It is considered one of the most important tumor suppressors in the post p53 era. Previously to identify the molecules involved in the signaling network regulated by PTEN using proteomic tools, we reported global proteome profiles at different time points using the PTEN inducible NIH3T3 cells (Kim, S.-y., Kim, Y. S., Bahk, Y. Y., Mol. Cells 2003, 15, 396-405). However, the system had a critical limitation that NIH3T3 cell has endogenous wild-type PTEN and, thus to be exact, the induced PTEN could not give the answer about the real physiological roles of this tumor suppressor. Here, to find out PTEN-related protein network we have established various PTEN (wild-type, an activity inert C124G, and a lipid phosphatase deficient G129E)-expressing cell clones in U-87 MG human glioblastoma cells lacking detectable PTEN as a result of genetic lesions. In this biological context, we compared their morphological and expression patterns, and proteome images of each PTEN-expressing cell clone by 2-DE followed by identification with MALDI-TOF MS. We obtained some pieces of evidence that morphological change by PTEN expression is mediated by its protein phosphatase activity and their growth rate by the lipid phosphatase activity. The proteomic approaches showed that 30 proteins possibly correlated with PTEN's protein phosphatase activity (13 down-regulated and 17 up-regulated) and 20 with the lipid phosphatase activity (14 down-regulated and 6 up-regulated) were identified. Taken together, we conclude that the comparative analysis of proteome from various PTEN-expressing cells has yielded interpretable data to elucidate the protein network directly and/or indirectly caused by individual phosphatase activities of PTEN in vivo.
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PMID:Proteome profile changes that are differentially regulated by lipid and protein phosphatase activities of tumor suppressor PTEN in PTEN-expressing U-87 MG human glioblastoma cells. 1629 7

Several studies have suggested that hypermethylation and hypomethylation of CpG islands within the promoters and 5' exons of tumor-related genes are closely associated with carcinogenesis. However, large-scale analysis of candidate genes has been hampered by the lack of a high throughput approach for analyzing methylation patterns. Using methylation-specific oligonucleotide (MSO) chips, we evaluated the methylation patterns of eight samples of fresh frozen glioblastoma tissue. The MSO chip used contained DNA probes with the CpG sites of p16 (p16INK4A, CDKN2A), MGMT (O6-Methylguanine-DNA-methyltransferase), APC (adenomatous polyposis coil), RASSF1A (human RAS effect homolog), which are usually hypermethylated in cancer cells and MAGE (melanoma antigen), which is usually hypomethylated in cancer cells. We selected CpG sites for analysis; 28 CpG sites (263 bp) for p16, 26 CpG sites (249 bp) for MGMT, 16 CpG sites (195 bp) for APC, 22 CpG sites (262 bp) for RASSF1A and 18 CpG sites (235 bp) for MAGE. We then constructed primer sets not including CpG sites. Bisulfite modification of genomic DNA, methylation specific PCR, hybridization and image scan with data analysis and sequencing of the bisulfite modified DNA were carried out. Of the eight glioblastomas, hypermethylation of the 5'-CpG sites of the MGMT were found in two, RASSF1A were found in five, and p16 and APC genes were not found in any cases and hypomethylation of that of the MAGE was found in eight cases. These results obtained from the oligo DNA chip study were correlated well with the sequencing data of bisulfite modified genomic DNA except in regard to the RASSF1A and MAGE genes. The devised MSO DNA chip is a useful tool for studies on methylation.
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PMID:Oligonucleotide DNA chips are useful adjuncts in epigenetic studies of glioblastomas. 1708 Jul 17


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