| pubmed-article:19902524 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19902524 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:19902524 | lifeskim:mentions | umls-concept:C0206743 | lld:lifeskim |
| pubmed-article:19902524 | lifeskim:mentions | umls-concept:C0205182 | lld:lifeskim |
| pubmed-article:19902524 | lifeskim:mentions | umls-concept:C1521991 | lld:lifeskim |
| pubmed-article:19902524 | lifeskim:mentions | umls-concept:C0205210 | lld:lifeskim |
| pubmed-article:19902524 | lifeskim:mentions | umls-concept:C2348519 | lld:lifeskim |
| pubmed-article:19902524 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:19902524 | pubmed:dateCreated | 2009-12-16 | lld:pubmed |
| pubmed-article:19902524 | pubmed:abstractText | The SMARCB1 gene status in 50 patients with atypical teratoid rhabdoid tumor and/or malignant rhabdoid tumor recruited to a German registry was prospectively analyzed with FISH and PCR. Altogether we found 40 SMARCB1 mutations in 28 patients. Two patients were positive for SMARCB1 staining at immunochemistry. Germline mutations were identified in 10 of 41 patients with CNS disease, including three large heterozygous deletions, six truncating mutations and one donor splice site mutation. No missense mutation was identified. Analysis of first degree relatives did not detect any carriers. Mutations were distributed over the SMARCB1-gene without particular clustering. No germline mutation was found in nine patients without CNS disease. Patients with germline mutation had a lower median age at diagnosis in comparison to those without detectable germline mutation (5.5 vs. 13 months, P = 0.001), a higher rate of primary multicentric CNS disease (5/10 vs. 5/36) and synchronous or metachronous mixed CNS and extracranial disease (4/10 vs. 1/36). Two year overall survival was 0% in patients with germline mutation and 48% in those without detectable germline mutation (P < 0.001). Patients with germline mutation of SMARCB1 manifest at an early age and have a very high risk for progression which has to be considered with respect to the outcome of further treatment studies. | lld:pubmed |
| pubmed-article:19902524 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19902524 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19902524 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:19902524 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19902524 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19902524 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19902524 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19902524 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19902524 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:19902524 | pubmed:issn | 1098-2264 | lld:pubmed |
| pubmed-article:19902524 | pubmed:author | pubmed-author:KosturEE | lld:pubmed |
| pubmed-article:19902524 | pubmed:author | pubmed-author:PietschTorste... | lld:pubmed |
| pubmed-article:19902524 | pubmed:author | pubmed-author:Schneppenheim... | lld:pubmed |
| pubmed-article:19902524 | pubmed:author | pubmed-author:LeuschnerIvoI | lld:pubmed |
| pubmed-article:19902524 | pubmed:author | pubmed-author:GrafNorbertN | lld:pubmed |
| pubmed-article:19902524 | pubmed:author | pubmed-author:SiebertReiner... | lld:pubmed |
| pubmed-article:19902524 | pubmed:author | pubmed-author:GeskStefanS | lld:pubmed |
| pubmed-article:19902524 | pubmed:author | pubmed-author:HasselblattMa... | lld:pubmed |
| pubmed-article:19902524 | pubmed:author | pubmed-author:OyenFlorianF | lld:pubmed |
| pubmed-article:19902524 | pubmed:author | pubmed-author:PetersOveO | lld:pubmed |
| pubmed-article:19902524 | pubmed:author | pubmed-author:JeibmannAstri... | lld:pubmed |
| pubmed-article:19902524 | pubmed:author | pubmed-author:FrühwaldMicha... | lld:pubmed |
| pubmed-article:19902524 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19902524 | pubmed:volume | 49 | lld:pubmed |
| pubmed-article:19902524 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19902524 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19902524 | pubmed:pagination | 176-81 | lld:pubmed |
| pubmed-article:19902524 | pubmed:meshHeading | pubmed-meshheading:19902524... | lld:pubmed |
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| pubmed-article:19902524 | pubmed:meshHeading | pubmed-meshheading:19902524... | lld:pubmed |
| pubmed-article:19902524 | pubmed:meshHeading | pubmed-meshheading:19902524... | lld:pubmed |
| pubmed-article:19902524 | pubmed:meshHeading | pubmed-meshheading:19902524... | lld:pubmed |
| pubmed-article:19902524 | pubmed:meshHeading | pubmed-meshheading:19902524... | lld:pubmed |
| pubmed-article:19902524 | pubmed:meshHeading | pubmed-meshheading:19902524... | lld:pubmed |
| pubmed-article:19902524 | pubmed:meshHeading | pubmed-meshheading:19902524... | lld:pubmed |
| pubmed-article:19902524 | pubmed:meshHeading | pubmed-meshheading:19902524... | lld:pubmed |
| pubmed-article:19902524 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:19902524 | pubmed:articleTitle | Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. | lld:pubmed |
| pubmed-article:19902524 | pubmed:affiliation | Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. kordes@uke.de | lld:pubmed |
| pubmed-article:19902524 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19902524 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:6598 | entrezgene:pubmed | pubmed-article:19902524 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:19902524 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:19902524 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:19902524 | lld:pubmed |
