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Although immunophenotyping studies suggested an uniform activated B-cell (ABC) origin, more recently a spectrum of ABC and germinal center B-cell (GC) cases has been proposed, with the molecular subtypes of PCNSL still being a matter of debate. With the emergence of novel therapies demonstrating different efficacy between the ABC and GC patient groups, precise assignment of molecular subtype is becoming indispensable. To determine the molecular subtype of 77 PCNSL and 17 secondary CNS lymphoma patients, we used the NanoString Lymphoma Subtyping Test (LST), a gene expression-based assay representing a more accurate technique\u00a0of subtyping compared with standard immunohistochemical (IHC) algorithms. Mutational landscapes of 14 target genes were determined using ultra-deep next-generation sequencing. Using the LST-assay, a significantly lower proportion (80% vs 95%) of PCNSL cases displayed ABC phenotype compared with the IHC-based characterization. The most frequently mutated genes included MYD88, PIM1, and KMT2D. In summary, we successfully applied the LST-assay for molecular classification of PCNSL, reporting higher proportion of cases with GC phenotype compared with IHC analyses, leading to a more precise patient stratification potentially applicable in the diagnostic algorithm of PCNSL.<\/jats:p>","DOI":"10.1093\/jnen\/nlz125","type":"journal-article","created":{"date-parts":[[2019,12,30]],"date-time":"2019-12-30T15:18:42Z","timestamp":1577719122000},"page":"176-183","source":"Crossref","is-referenced-by-count":46,"title":["Molecular Subtypes and Genomic Profile of Primary Central Nervous System Lymphoma"],"prefix":"10.1093","volume":"79","author":[{"given":"Csaba","family":"B\u00f6d\u00f6r","sequence":"first","affiliation":[{"name":"From the MTA-SE Momentum Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University , Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Don\u00e1t","family":"Alp\u00e1r","sequence":"additional","affiliation":[{"name":"From the MTA-SE Momentum Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University , Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00f3ra","family":"Marosv\u00e1ri","sequence":"additional","affiliation":[{"name":"From the MTA-SE Momentum Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University , Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bence","family":"Galik","sequence":"additional","affiliation":[{"name":"Bioinformatics Research Group, Bioinformatics and Sequencing Core Facilities, Szenta\u00e1gothai Research Centre, University of Pe\u00e9s, Pe\u00e9s , Hungary; , Poland; , Bia\u0142ystok, Poland"},{"name":"Department of Clinical Molecular Biology, Medical University of Bialystok, Bia\u0142ystok , Hungary; , Poland; , Bia\u0142ystok, Poland"},{"name":"Medical University of Bialystok , Hungary; , Poland; , Bia\u0142ystok, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajnalka","family":"Rajnai","sequence":"additional","affiliation":[{"name":"From the MTA-SE Momentum Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University , Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bence","family":"B\u00e1tai","sequence":"additional","affiliation":[{"name":"From the MTA-SE Momentum Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University , Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1kos","family":"Nagy","sequence":"additional","affiliation":[{"name":"From the MTA-SE Momentum Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University , Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9la","family":"Kajt\u00e1r","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of P\u00e9cs , P\u00e9cs, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrienn","family":"Burj\u00e1n","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of P\u00e9cs , P\u00e9cs, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Be\u00e1ta","family":"De\u00e1k","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology and Haematology, National Institute of Oncology , Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tam\u00e1s","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology and Haematology, National Institute of Oncology , Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hussain","family":"Alizadeh","sequence":"additional","affiliation":[{"name":"1st Department of Internal Medicine, Hematology Division, University of P\u00e9cs , P\u00e9cs, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e1s","family":"Matolcsy","sequence":"additional","affiliation":[{"name":"From the MTA-SE Momentum Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University , Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Brandner","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust and Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology , London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Storhoff","sequence":"additional","affiliation":[{"name":"NanoString Technologies , Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ning","family":"Chen","sequence":"additional","affiliation":[{"name":"NanoString Technologies , Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingdong","family":"Liu","sequence":"additional","affiliation":[{"name":"NanoString Technologies , Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadeem","family":"Ghali","sequence":"additional","affiliation":[{"name":"Incyte Corporation , Wilmington, Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ir\u00e9n","family":"Csala","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Psychotherapy, Semmelweis University , Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attila G","family":"Bag\u00f3","sequence":"additional","affiliation":[{"name":"Department of Neurooncology, National Institute of Clinical Neurosciences , Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attila","family":"Gyenesei","sequence":"additional","affiliation":[{"name":"Bioinformatics Research Group, Bioinformatics and Sequencing Core Facilities, Szenta\u00e1gothai Research Centre, University of Pe\u00e9s, Pe\u00e9s , Hungary; , Poland; , Bia\u0142ystok, Poland"},{"name":"Department of Clinical Molecular Biology, Medical University of Bialystok, Bia\u0142ystok , Hungary; , Poland; , Bia\u0142ystok, Poland"},{"name":"Medical University of Bialystok , Hungary; , Poland; , Bia\u0142ystok, 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