{"doi":"10.17615/x41h-8903","title":"Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2","abstract":"Enteropathy-associated T cell lymphoma (EATL) is a lethal, and the most common, neoplastic complication of celiac disease. Here, we defined the genetic landscape of EATL through whole-exome sequencing of 69 EATL tumors. SETD2 was the most frequently silenced gene in EATL (32% of cases). The JAK-STAT pathway was the most frequently mutated pathway, with frequent mutations in STAT5B as well as JAK1 , JAK3 , STAT3 , and SOCS1 . We also identified mutations in KRAS , TP53 , and TERT . Type I EATL and type II EATL (monomorphic epitheliotropic intestinal T cell lymphoma) had highly overlapping genetic alterations indicating shared mechanisms underlying their pathogenesis. We modeled the effects of SETD2 loss in vivo by developing a T cell–specific knockout mouse. These mice manifested an expansion of γδ T cells, indicating novel roles for SETD2 in T cell development and lymphomagenesis. Our data render the most comprehensive genetic portrait yet of this uncommon but lethal disease and may inform future classification schemes.","journal":"UNC Libraries","year":2020,"id":144650,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9618,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":296285,"name":"Randy D. Gascoyne","orcid":"0000-0002-2610-5690","position":1,"is_corresponding":false},{"id":613946,"name":"Brooke C. Palus","orcid":null,"position":2,"is_corresponding":false},{"id":33053,"name":"Sandeep S. Davé","orcid":"0000-0003-4848-9768","position":3,"is_corresponding":false},{"id":613947,"name":"Tiffany J. Tzeng","orcid":null,"position":4,"is_corresponding":false},{"id":613767,"name":"Jiayu Yu","orcid":"0000-0002-8782-9131","position":5,"is_corresponding":false},{"id":593645,"name":"Jyotishka Datta","orcid":"0000-0001-5991-5182","position":6,"is_corresponding":false},{"id":593644,"name":"Matthew McKinney","orcid":"0000-0003-2294-9367","position":7,"is_corresponding":false},{"id":594402,"name":"Deepthi Rajagopalan","orcid":null,"position":8,"is_corresponding":false},{"id":554648,"name":"Eileen Smith","orcid":"0000-0002-2116-8094","position":9,"is_corresponding":false},{"id":613768,"name":"Eric Tse","orcid":"0000-0002-8351-4722","position":10,"is_corresponding":false},{"id":446859,"name":"Javeed Iqbal","orcid":"0000-0003-3668-0629","position":11,"is_corresponding":false},{"id":395713,"name":"Kikkeri N. Naresh","orcid":"0000-0003-3807-3638","position":12,"is_corresponding":false},{"id":554645,"name":"Nicholas S. Davis","orcid":"0000-0003-1955-9990","position":13,"is_corresponding":false},{"id":471414,"name":"Sarah L. Ondrejka","orcid":"0000-0001-9431-2889","position":14,"is_corresponding":false},{"id":593633,"name":"John R. Goodlad","orcid":"0000-0002-8385-8517","position":15,"is_corresponding":false},{"id":613769,"name":"Susanna Mannisto","orcid":"0000-0002-4336-2357","position":16,"is_corresponding":false},{"id":613948,"name":"Rachel E. Rempel","orcid":null,"position":17,"is_corresponding":false},{"id":613770,"name":"Panu E. Kovanen","orcid":"0000-0001-8218-2271","position":18,"is_corresponding":false},{"id":249494,"name":"Jonathan Said","orcid":"0000-0001-9474-2563","position":19,"is_corresponding":false},{"id":374516,"name":"Kristy L. Richards","orcid":"0000-0001-5765-6631","position":20,"is_corresponding":false},{"id":308650,"name":"Amy Chadburn","orcid":"0000-0002-9499-8638","position":21,"is_corresponding":false},{"id":613771,"name":"Sirpa Leppä","orcid":"0000-0002-8265-511X","position":22,"is_corresponding":false},{"id":396574,"name":"Gopesh Srivastava","orcid":null,"position":23,"is_corresponding":false},{"id":296278,"name":"Diego Villa","orcid":"0000-0002-4625-3009","position":24,"is_corresponding":false},{"id":238192,"name":"Eric D. Hsi","orcid":"0000-0001-8623-4067","position":25,"is_corresponding":false},{"id":613949,"name":"Chun Huat Teh","orcid":null,"position":26,"is_corresponding":false},{"id":396580,"name":"Cassandra Love","orcid":null,"position":27,"is_corresponding":false},{"id":593630,"name":"Rex Au-Yeung","orcid":"0000-0002-3137-0886","position":28,"is_corresponding":false},{"id":613772,"name":"Yok‐Lam Kwong","orcid":"0000-0001-8156-6978","position":29,"is_corresponding":false},{"id":593632,"name":"Andrea B. Moffitt","orcid":"0000-0001-5964-7851","position":30,"is_corresponding":false},{"id":613950,"name":"Jane Healy","orcid":null,"position":31,"is_corresponding":false},{"id":43059,"name":"Shawn Levy","orcid":"0000-0002-1369-5740","position":32,"is_corresponding":false},{"id":593640,"name":"David B. Dunson","orcid":"0000-0003-4942-1597","position":33,"is_corresponding":false},{"id":395710,"name":"Patricia Lugar","orcid":"0000-0002-7725-7424","position":34,"is_corresponding":false},{"id":395708,"name":"Magdalena Czader","orcid":"0000-0002-6173-6500","position":35,"is_corresponding":false},{"id":593629,"name":"Yuan Zhuang","orcid":"0000-0003-3377-9658","position":0,"is_corresponding":true}],"reference_count":0,"raw_metadata":null,"created_at":"2026-07-18T23:17:48.191325Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}