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000127695 0247_ $$2doi$$a10.1038/leu.2014.264
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000127695 1001_ $$aVater, I.$$b0
000127695 245__ $$aThe mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing.
000127695 260__ $$aBasingstoke$$bNature Publ. Group$$c2015
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000127695 520__ $$aTo decipher the mutational pattern of primary CNS lymphoma (PCNSL), we performed whole-exome sequencing to a median coverage of 103 × followed by mutation verification in 9 PCNSL and validation using Sanger sequencing in 22 PCNSL. We identified a median of 202 (range: 139-251) potentially somatic single nucleotide variants (SNV) and 14 small indels (range: 7-22) with potentially protein-changing features per PCNSL. Mutations affected the B-cell receptor, toll-like receptor, and NF-κB and genes involved in chromatin structure and modifications, cell-cycle regulation, and immune recognition. A median of 22.2% (range: 20.0-24.7%) of somatic SNVs in 9 PCNSL overlaps with the RGYW motif targeted by somatic hypermutation (SHM); a median of 7.9% (range: 6.2-12.6%) affects its hotspot position suggesting a major impact of SHM on PCNSL pathogenesis. In addition to the well-known targets of aberrant SHM (aSHM) (PIM1), our data suggest new targets of aSHM (KLHL14, OSBPL10, and SUSD2). Among the four most frequently mutated genes was ODZ4 showing protein-changing mutations in 4/9 PCNSL. Together with mutations affecting CSMD2, CSMD3, and PTPRD, these findings may suggest that alterations in genes having a role in CNS development may facilitate diffuse large B-cell lymphoma manifestation in the CNS. This may point to intriguing mechanisms of CNS tropism in PCNSL.
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000127695 650_7 $$2NLM Chemicals$$aCSMD2 protein, human
000127695 650_7 $$2NLM Chemicals$$aCSMD3 protein, human
000127695 650_7 $$2NLM Chemicals$$aImmunoglobulin Heavy Chains
000127695 650_7 $$2NLM Chemicals$$aMembrane Glycoproteins
000127695 650_7 $$2NLM Chemicals$$aMembrane Proteins
000127695 650_7 $$2NLM Chemicals$$aReceptors, Steroid
000127695 650_7 $$2NLM Chemicals$$aSUSD2 protein, human
000127695 650_7 $$2NLM Chemicals$$aoxysterol binding protein
000127695 650_7 $$2NLM Chemicals$$ateneurin-4 protein, human
000127695 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aPIM1 protein, human
000127695 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aProto-Oncogene Proteins c-pim-1
000127695 650_7 $$0EC 3.1.3.48$$2NLM Chemicals$$aPTPRD protein, human
000127695 650_7 $$0EC 3.1.3.48$$2NLM Chemicals$$aReceptor-Like Protein Tyrosine Phosphatases, Class 2
000127695 7001_ $$aMontesinos-Rongen, M.$$b1
000127695 7001_ $$0P:(DE-He78)f2a782242acf94a3114d75c45dc75b37$$aSchlesner, M.$$b2$$udkfz
000127695 7001_ $$aHaake, A.$$b3
000127695 7001_ $$aPurschke, F.$$b4
000127695 7001_ $$aSprute, R.$$b5
000127695 7001_ $$aMettenmeyer, N.$$b6
000127695 7001_ $$aNazzal, I.$$b7
000127695 7001_ $$aNagel, I.$$b8
000127695 7001_ $$aGutwein, J.$$b9
000127695 7001_ $$aRichter, J.$$b10
000127695 7001_ $$0P:(DE-He78)e84b3187ddd3529f884082e30f228c66$$aBuchhalter, I.$$b11$$udkfz
000127695 7001_ $$aRussell, R. B.$$b12
000127695 7001_ $$0P:(DE-He78)86e3d284d2b1dc72c5965f3b4f909ddb$$aWiestler, Otmar$$b13$$udkfz
000127695 7001_ $$0P:(DE-He78)78b6aa82148e60b4d91e3a37a6d3d9a0$$aEils, R.$$b14$$udkfz
000127695 7001_ $$aDeckert, M.$$b15
000127695 7001_ $$aSiebert, R.$$b16
000127695 773__ $$0PERI:(DE-600)2008023-2$$a10.1038/leu.2014.264$$gVol. 29, no. 3, p. 677 - 685$$n3$$p677 - 685$$tLeukemia$$v29$$x1476-5551$$y2015
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