{"id":"https://openalex.org/W4361944971","doi":"https://doi.org/10.1158/1078-0432.c.6523308","title":"Data from Genome-Wide Analysis Uncovers Novel Recurrent Alterations in Primary Central Nervous System Lymphomas","display_name":"Data from Genome-Wide Analysis Uncovers Novel Recurrent Alterations in Primary Central Nervous System Lymphomas","publication_year":2023,"publication_date":"2023-03-31","ids":{"openalex":"https://openalex.org/W4361944971","doi":"https://doi.org/10.1158/1078-0432.c.6523308"},"language":"en","primary_location":{"id":"doi:10.1158/1078-0432.c.6523308","doi":"https://doi.org/10.1158/1078-0432.c.6523308","is_oa":true,"landing_page_url":"https://doi.org/10.1158/1078-0432.c.6523308","pdf_url":null,"source":null,"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"American Association for Cancer Research","raw_type":"posted-content"},"volume":null,"type":"other","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1158/1078-0432.c.6523308","any_repository_has_fulltext":null},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5082845313","display_name":"Esteban Braggio","orcid":"https://orcid.org/0000-0003-3860-4830","observed_orcids":["https://orcid.org/0000-0003-3860-4830"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Esteban Braggio","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108419549","display_name":"Scott Van Wier","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Scott Van Wier","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014031554","display_name":"Juhi Ojha","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Juhi Ojha","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052260788","display_name":"Ellen Darcy McPhail","orcid":"https://orcid.org/0000-0001-6918-3376","observed_orcids":["https://orcid.org/0000-0001-6918-3376"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ellen McPhail","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022178171","display_name":"Yan W. Asmann","orcid":"https://orcid.org/0000-0002-8896-2647","observed_orcids":["https://orcid.org/0000-0002-8896-2647"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yan W. Asmann","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112904477","display_name":"Jan B. Egan","orcid":"https://orcid.org/0000-0002-2155-3099","observed_orcids":["https://orcid.org/0000-0002-2155-3099"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jan Egan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000439502","display_name":"Jackline Ayres da Silva","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jackline Ayres da Silva","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023905352","display_name":"David Schiff","orcid":"https://orcid.org/0000-0002-1896-2502","observed_orcids":["https://orcid.org/0000-0002-1896-2502","https://orcid.org/0000-0003-1561-9220"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"David Schiff","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070952764","display_name":"M. Beatriz S. Lopes","orcid":"https://orcid.org/0000-0001-8661-6727","observed_orcids":["https://orcid.org/0000-0001-8661-6727"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Beatriz Lopes","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067380097","display_name":"Paul A. Decker","orcid":"https://orcid.org/0000-0002-3756-4227","observed_orcids":["https://orcid.org/0000-0002-3756-4227"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Paul A. Decker","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103456701","display_name":"Riccardo Valdez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Riccardo Valdez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018041025","display_name":"Raoul Tibes","orcid":"https://orcid.org/0000-0002-1372-8733","observed_orcids":["https://orcid.org/0000-0002-1372-8733"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Raoul Tibes","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085469751","display_name":"Bruce W. Eckloff","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bruce Eckloff","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004152557","display_name":"Thomas Elmer Witzig","orcid":"https://orcid.org/0000-0002-4215-6500","observed_orcids":["https://orcid.org/0000-0002-4215-6500"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Thomas E. Witzig","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011949023","display_name":"A. Keith Stewart","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Keith Stewart","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003015868","display_name":"Rafa\u00ebl Fonseca","orcid":"https://orcid.org/0000-0002-5938-3769","observed_orcids":["https://orcid.org/0000-0002-5938-3769"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rafael Fonseca","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5027267415","display_name":"Brian Patrick O\u2019Neill","orcid":"https://orcid.org/0000-0001-7456-6152","observed_orcids":["https://orcid.org/0000-0001-7456-6152"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Brian Patrick O'Neill","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12212","display_name":"CNS Lymphoma Diagnosis and Treatment","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12212","display_name":"CNS Lymphoma Diagnosis and Treatment","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10185","display_name":"Lymphoma Diagnosis and Treatment","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10685","display_name":"Viral-associated cancers and disorders","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/primary-central-nervous-system-lymphoma","display_name":"primary central nervous system lymphoma","score":0.996999979019165},{"id":"https://openalex.org/keywords/diffuse-large-b-cell-lymphoma","display_name":"diffuse large B-cell lymphoma","score":0.972000002861023},{"id":"https://openalex.org/keywords/tox","display_name":"TOX","score":0.6000000238418579},{"id":"https://openalex.org/keywords/protein-kinase-c-delta","display_name":"protein kinase C delta","score":0.9990000128746033},{"id":"https://openalex.org/keywords/myd88-mutation","display_name":"MYD88 mutation","score":0.9020000100135803},{"id":"https://openalex.org/keywords/tnfaip3","display_name":"A20","score":0.8500000238418579},{"id":"https://openalex.org/keywords/b-cell-receptor-signaling","display_name":"B cell receptor signaling","score":0.718999981880188},{"id":"https://openalex.org/keywords/toll-like-receptor-signaling","display_name":"Toll-like receptor signaling","score":0.9390000104904175},{"id":"https://openalex.org/keywords/nf-kappab-signaling","display_name":"NF-\u03baB signaling","score":0.9269999861717224},{"id":"https://openalex.org/keywords/genetic-alterations","display_name":"genetic alterations","score":0.5799999833106995},{"id":"https://openalex.org/keywords/lymphomagenesis","display_name":"lymphomagenesis","score":0.5920000076293945}],"concepts":[{"id":"https://openalex.org/C2781173314","wikidata":"https://www.wikidata.org/wiki/Q3246818","display_name":"Primary central nervous system lymphoma","level":3,"score":0.6145051717758179},{"id":"https://openalex.org/C2778559949","wikidata":"https://www.wikidata.org/wiki/Q2626074","display_name":"Diffuse large B-cell lymphoma","level":3,"score":0.4943699836730957},{"id":"https://openalex.org/C2779338263","wikidata":"https://www.wikidata.org/wiki/Q208414","display_name":"Lymphoma","level":2,"score":0.4735352694988251},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3799338638782501},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.36458951234817505},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.18047675490379333}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1158/1078-0432.c.6523308","doi":"https://doi.org/10.1158/1078-0432.c.6523308","is_oa":true,"landing_page_url":"https://doi.org/10.1158/1078-0432.c.6523308","pdf_url":null,"source":null,"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"American Association for Cancer Research","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.1158/1078-0432.c.6523308","doi":"https://doi.org/10.1158/1078-0432.c.6523308","is_oa":true,"landing_page_url":"https://doi.org/10.1158/1078-0432.c.6523308","pdf_url":null,"source":null,"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"American Association for Cancer Research","raw_type":"posted-content"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2153847647","https://openalex.org/W2032451867","https://openalex.org/W2404644188","https://openalex.org/W2576356661","https://openalex.org/W3187303179","https://openalex.org/W2070396312","https://openalex.org/W2598652185","https://openalex.org/W2116957041","https://openalex.org/W4361944536","https://openalex.org/W2556792162"],"abstract_inverted_index":{"Abstract":[0],"Purpose:":[1],"Primary":[2],"central":[3,16],"nervous":[4,17],"system":[5],"lymphoma":[6,12,37],"(PCNSL)":[7],"is":[8,21,39],"an":[9],"aggressive":[10],"non-Hodgkin":[11],"confined":[13],"to":[14,183],"the":[15],"system.":[18],"Whether":[19],"there":[20],"a":[22,45,84,94],"PCNSL-specific":[23],"genomic":[24,47,60],"signature":[25],"and,":[26],"if":[27],"so,":[28],"how":[29],"it":[30],"differs":[31],"from":[32,52,186],"systemic":[33,81,115,187],"diffuse":[34],"large":[35],"B-cell":[36,136],"(DLBCL)":[38],"uncertain.":[40],"Experimental":[41],"Design:":[42],"We":[43],"performed":[44],"comprehensive":[46],"study":[48],"of":[49,69,97,119,129,144,158],"tumor":[50],"samples":[51],"19":[53],"immunocompetent":[54],"PCNSL":[55,77,88,111,185],"patients.":[56],"Testing":[57],"comprised":[58],"array-comparative":[59],"hybridization":[61],"and":[62,71,101,132,166,180,189],"whole":[63],"exome":[64],"sequencing.":[65],"Results:":[66],"Biallelic":[67],"inactivation":[68],"TOX":[70,179],"PRKCD":[72],"was":[73],"recurrently":[74,108],"found":[75,93],"in":[76,80,87,110,142],"but":[78],"not":[79],"DLBCL,":[82,116],"suggesting":[83],"specific":[85],"role":[86],"pathogenesis.":[89],"In":[90,170],"addition,":[91],"we":[92],"high":[95],"prevalence":[96],"MYD88":[98],"mutations":[99,128],"(79%)":[100],"CDKN2A":[102],"biallelic":[103],"loss":[104,118],"(60%).":[105],"Several":[106],"genes":[107],"affected":[109],"were":[112,140],"common":[113],"with":[114,161],"including":[117,178],"TNFAIP3,":[120],"PRDM1,":[121],"GNA13,":[122],"TMEM30A,":[123],"TBL1XR1,":[124],"B2M,":[125],"CD58,":[126],"activating":[127],"CD79B,":[130],"CARD11,":[131],"translocations":[133],"IgH-BCL6.":[134],"Overall,":[135],"receptor/Toll-like":[137],"receptor/NF-\u03baB":[138],"pathways":[139,159],"altered":[141],">90%":[143],"PNCSL,":[145],"highlighting":[146],"its":[147],"value":[148],"for":[149],"targeted":[150],"therapeutic":[151],"approaches.":[152],"Furthermore,":[153],"integrated":[154],"analysis":[155,173],"showed":[156],"enrichment":[157],"associated":[160],"immune":[162],"response,":[163],"proliferation,":[164],"apoptosis,":[165],"lymphocyte":[167],"differentiation.":[168],"Conclusions:":[169],"summary,":[171],"genome-wide":[172],"uncovered":[174],"novel":[175],"recurrent":[176],"alterations,":[177],"PRKCD,":[181],"helping":[182],"differentiate":[184],"DLBCL":[188],"related":[190],"lymphomas.":[191],"Clin":[192],"Cancer":[193],"Res;":[194],"21(17);":[195],"3986\u201394.":[196],"\u00a92015":[197],"AACR.":[198]},"counts_by_year":[],"updated_date":"2026-09-29T14:09:16.559479","created_date":"2023-04-05T00:00:00"}