000168504 001__ 168504
000168504 005__ 20240229133610.0
000168504 0247_ $$2doi$$a10.1002/gcc.22954
000168504 0247_ $$2pmid$$apmid:33896072
000168504 0247_ $$2ISSN$$a1045-2257
000168504 0247_ $$2ISSN$$a1098-2264
000168504 0247_ $$2altmetric$$aaltmetric:104717113
000168504 037__ $$aDKFZ-2021-00936
000168504 041__ $$aEnglish
000168504 082__ $$a610
000168504 1001_ $$00000-0002-6642-7774$$aThomas, Christian$$b0
000168504 245__ $$aTransposable element insertion as a mechanism of SMARCB1 inactivation in atypical teratoid/rhabdoid tumor.
000168504 260__ $$aNew York, NY$$bWiley-Liss$$c2021
000168504 3367_ $$2DRIVER$$aarticle
000168504 3367_ $$2DataCite$$aOutput Types/Journal article
000168504 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1625059528_23645
000168504 3367_ $$2BibTeX$$aARTICLE
000168504 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000168504 3367_ $$00$$2EndNote$$aJournal Article
000168504 500__ $$a2021 Aug;60(8):586-590
000168504 520__ $$aAtypical teratoid/rhabdoid tumor (AT/RT) is a malignant brain tumor predominantly occurring in infants. Biallelic SMARCB1 mutations causing loss of nuclear SMARCB1/INI1 protein expression represent the characteristic genetic lesion. Pathogenic SMARCB1 mutations comprise single nucleotide variants, small insertions/deletions, large deletions, which may be also present in the germline (rhabdoid tumor predisposition syndrome 1), as well as somatic copy-number neutral loss of heterozygosity (LOH). In some SMARCB1-deficient AT/RT underlying biallelic mutations cannot be identified. Here we report the case of a 24-months-old girl diagnosed with a large brain tumor. The malignant rhabdoid tumor showed loss of nuclear SMARCB1/INI1 protein expression and the diagnosis of AT/RT was confirmed by DNA methylation profiling. While FISH, MLPA, Sanger sequencing and DNA methylation data-based imbalance analysis did not disclose alterations affecting SMARCB1, OncoScan array analysis revealed a 28.29 Mb sized region of copy-number neutral LOH on chromosome 22q involving the SMARCB1 locus. Targeted next-generation sequencing did also not detect a single nucleotide variant but instead revealed insertion of an AluY element into exon 2 of SMARCB1. Specific PCR-based Sanger sequencing verified the Alu insertion (SMARCB1 c.199_200 Alu ins) resulting in a frame-shift truncation not present in the patient's germline. In conclusion, transposable element insertion represents a hitherto not widely recognized mechanism of SMARCB1 disruption in AT/RT, which might not be detected by several widely applied conventional diagnostics assays. This finding has particular clinical implications, if rhabdoid predisposition syndrome 1 is suspected, but germline SMARCB1 alterations cannot be identified. This article is protected by copyright. All rights reserved.
000168504 536__ $$0G:(DE-HGF)POF4-312$$a312 - Funktionelle und strukturelle Genomforschung (POF4-312)$$cPOF4-312$$fPOF IV$$x0
000168504 588__ $$aDataset connected to DataCite
000168504 650_7 $$2Other$$aAlu element
000168504 650_7 $$2Other$$aSMARCB1
000168504 650_7 $$2Other$$atransposable element insertion
000168504 650_7 $$2Other$$atypical teratoid/rhabdoid tumor
000168504 7001_ $$aOehl-Huber, Kathrin$$b1
000168504 7001_ $$aBens, Susanne$$b2
000168504 7001_ $$aSoschinski, Patrick$$b3
000168504 7001_ $$aKoch, Arend$$b4
000168504 7001_ $$aNemes, Karolina$$b5
000168504 7001_ $$aOyen, Florian$$b6
000168504 7001_ $$aKordes, Uwe$$b7
000168504 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b8$$udkfz
000168504 7001_ $$aFrühwald, Michael C$$b9
000168504 7001_ $$00000-0003-2707-8484$$aHasselblatt, Martin$$b10
000168504 7001_ $$aSiebert, Reiner$$b11
000168504 773__ $$0PERI:(DE-600)1492641-6$$a10.1002/gcc.22954$$gp. gcc.22954$$n8$$p586-590$$tGenes, chromosomes & cancer$$v60$$x1098-2264$$y2021
000168504 909CO $$ooai:inrepo02.dkfz.de:168504$$pVDB
000168504 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aDeutsches Krebsforschungszentrum$$b8$$kDKFZ
000168504 9130_ $$0G:(DE-HGF)POF3-312$$1G:(DE-HGF)POF3-310$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vFunctional and structural genomics$$x0
000168504 9131_ $$0G:(DE-HGF)POF4-312$$1G:(DE-HGF)POF4-310$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vFunktionelle und strukturelle Genomforschung$$x0
000168504 9141_ $$y2021
000168504 915__ $$0StatID:(DE-HGF)0420$$2StatID$$aNationallizenz$$d2021-02-03$$wger
000168504 915__ $$0StatID:(DE-HGF)3001$$2StatID$$aDEAL Wiley$$d2021-02-03$$wger
000168504 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bGENE CHROMOSOME CANC : 2019$$d2021-02-03
000168504 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2021-02-03
000168504 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2021-02-03
000168504 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2021-02-03
000168504 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2021-02-03
000168504 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2021-02-03
000168504 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2021-02-03
000168504 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2021-02-03
000168504 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2021-02-03
000168504 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2021-02-03
000168504 915__ $$0StatID:(DE-HGF)9900$$2StatID$$aIF < 5$$d2021-02-03
000168504 9201_ $$0I:(DE-He78)B062-20160331$$kB062$$lB062 Pädiatrische Neuroonkologie$$x0
000168504 9201_ $$0I:(DE-He78)HD01-20160331$$kHD01$$lDKTK HD zentral$$x1
000168504 980__ $$ajournal
000168504 980__ $$aVDB
000168504 980__ $$aI:(DE-He78)B062-20160331
000168504 980__ $$aI:(DE-He78)HD01-20160331
000168504 980__ $$aUNRESTRICTED