{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:47:21Z","timestamp":1792784841409,"version":"4.5.0"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T00:00:00Z","timestamp":1783036800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T00:00:00Z","timestamp":1790208000000},"content-version":"vor","delay-in-days":83,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"David Y. Mason Award"},{"name":"TRANSCAN-2"},{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["310030_172954"],"award-info":[{"award-number":["310030_172954"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Swiss Cancer League","id":[{"id":"https:\/\/ror.org\/01pd7my79","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Blood Cancer J."],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Primary intestinal T-cell lymphomas (ITCLs), comprising enteropathy-associated T-cell lymphoma (EATL) and monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL), are rare aggressive tumors. The role of DNA mismatch repair (MMR) deficiency (dMMR) and microsatellite instability (MSI) in the development of ITCLs remains largely unexplored. Here, we investigated the incidence, molecular mechanisms and clinical relevance of dMMR\/MSI in 86 ITCLs (30 EATLs, 56 MEITLs) using whole-exome sequencing, PCR-based MSI testing, DNA methylation profiling, and immunohistochemistry for MLH1, MSH2, MSH6 and PMS2. MMR deficiency was detected in 3 of 53 MEITLs (6%) but in none of the EATLs. dMMR MEITLs showed the highest tumor mutational burden (8.3\u201317.1 mutations\/Mb), compared to median TMBs of 1.9 in MEITL and 2.4 in EATL. The complete loss of MLH1\/PMS2 expression in two MSI-high tumors and isolated PMS2 loss in the third case were all associated with biallelic deletions of the affected loci. Notably,\n                    <jats:italic>MLH1<\/jats:italic>\n                    deletions significantly co\u2011occurred with\n                    <jats:italic>SETD2<\/jats:italic>\n                    deletions (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.001), the latter representing a major driver of MEITL tumorigenesis. dMMR MEITLs lacked distinctive clinicopathologic features. These findings indicate that dMMR\/MSI occurs in a subset of MEITLs probably during tumor progression, rather than being an initiating driver event, and provide a biological rationale to explore the efficacy of immune checkpoint inhibitors in some of this unfavorable subtype of ITCL.\n                  <\/jats:p>","DOI":"10.1038\/s41408-026-01562-3","type":"journal-article","created":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T17:46:14Z","timestamp":1783100774000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genomic loss of MLH1\/PMS2 loci defines a mismatch repair deficient subgroup in monomorphic epitheliotropic intestinal T-cell lymphoma"],"prefix":"10.1038","volume":"16","author":[{"given":"Luis","family":"Veloza","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7145-2544","authenticated-orcid":false,"given":"Anja","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vimel","family":"Rattina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Vallois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Sarkis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Lefort","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6840-375X","authenticated-orcid":false,"given":"Bettina","family":"Bisig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doriane","family":"Cavalieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9438-621X","authenticated-orcid":false,"given":"Olivier","family":"Tournilhac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Gaulard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reiner","family":"Siebert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3994-516X","authenticated-orcid":false,"given":"Laurence","family":"de Leval","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9221-0117","authenticated-orcid":false,"given":"Edoardo","family":"Missiaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,3]]},"reference":[{"key":"1562_CR1","doi-asserted-by":"crossref","unstructured":"Pe\u0107ina-\u0160laus N, Kafka A, Salamon I, Bukovac A. Mismatch repair pathway, genome stability and cancer. Front Mol Biosci. 2020;7.","DOI":"10.3389\/fmolb.2020.00122"},{"key":"1562_CR2","doi-asserted-by":"publisher","first-page":"734","DOI":"10.1038\/s41571-025-01054-6","volume":"22","author":"P Johannet","year":"2025","unstructured":"Johannet P, Rousseau B, Aghajanian C, Foote MB, Diaz LA Jr. Therapeutic targeting of mismatch repair-deficient cancers. Nat Rev Clin Oncol. 2025;22:734\u201359.","journal-title":"Nat Rev Clin Oncol"},{"key":"1562_CR3","doi-asserted-by":"publisher","first-page":"2073","DOI":"10.1053\/j.gastro.2009.12.064","volume":"138","author":"CR Boland","year":"2010","unstructured":"Boland CR, Goel A. Microsatellite instability in colorectal cancer. Gastroenterology. 2010;138:2073\u201387 e3.","journal-title":"Gastroenterology"},{"key":"1562_CR4","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2023.1210164","volume":"14","author":"G Mestrallet","year":"2023","unstructured":"Mestrallet G, Brown M, Bozkus CC, Bhardwaj N. Immune escape and resistance to immunotherapy in mismatch repair deficient tumors. Front Immunol. 2023;14:1210164.","journal-title":"Front Immunol"},{"key":"1562_CR5","doi-asserted-by":"publisher","first-page":"2509","DOI":"10.1056\/NEJMoa1500596","volume":"372","author":"DT Le","year":"2015","unstructured":"Le DT, Uram JN, Wang H, Bartlett BR, Kemberling H, Eyring AD, et al. PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med. 2015;372:2509\u201320.","journal-title":"N Engl J Med"},{"key":"1562_CR6","doi-asserted-by":"publisher","first-page":"1183","DOI":"10.1016\/j.leukres.2007.11.024","volume":"32","author":"K Miyashita","year":"2008","unstructured":"Miyashita K, Fujii K, Yamada Y, Hattori H, Taguchi K, Yamanaka T, et al. Frequent microsatellite instability in non-Hodgkin lymphomas irresponsive to chemotherapy. Leuk Res. 2008;32:1183\u201395.","journal-title":"Leuk Res"},{"key":"1562_CR7","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1046\/j.1440-1746.2003.03120.x","volume":"18","author":"T Hiyama","year":"2003","unstructured":"Hiyama T, Tanaka S, Masuda H, Shima H, Kose K, Tuncel H, et al. p53 expression, K-ras gene mutation and microsatellite instability in gastric B-cell lymphomas. J Gastroenterol Hepatol. 2003;18:1047\u201353.","journal-title":"J Gastroenterol Hepatol"},{"key":"1562_CR8","doi-asserted-by":"publisher","first-page":"2142","DOI":"10.1038\/sj.leu.2401978","volume":"14","author":"M Nagy","year":"2000","unstructured":"Nagy M, Bal\u00e1zs M, Ad\u00e1m Z, Petk\u00f3 Z, T\u00edm\u00e1r B, Szereday Z, et al. Genetic instability is associated with histological transformation of follicle center lymphoma. Leukemia. 2000;14:2142\u20138.","journal-title":"Leukemia"},{"key":"1562_CR9","first-page":"181","volume":"86","author":"L Sanz-Vaqu\u00e9","year":"2001","unstructured":"Sanz-Vaqu\u00e9 L, Colomer D, Bosch F, L\u00f3pez-Guillermo A, Dreyling MH, Bosch F, et al. Microsatellite instability analysis in typical and progressed mantle cell lymphoma and B-cell chronic lymphocytic leukemia. Haematologica. 2001;86:181\u20136.","journal-title":"Haematologica"},{"key":"1562_CR10","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1038\/sj.leu.2402792","volume":"17","author":"Z F\u00fcl\u00f6p","year":"2003","unstructured":"F\u00fcl\u00f6p Z, Csernus B, T\u00edm\u00e1r B, Szepesi \u00c1, Matolcsy A. Microsatellite instability and hMLH1 promoter hypermethylation in Richter\u2019s transformation of chronic lymphocytic leukemia. Leukemia. 2003;17:411\u20135.","journal-title":"Leukemia"},{"key":"1562_CR11","doi-asserted-by":"publisher","first-page":"2937","DOI":"10.1182\/blood.V95.9.2937.009k15_2937_2942","volume":"95","author":"JJ Scarisbrick","year":"2000","unstructured":"Scarisbrick JJ, Woolford AJ, Russell-Jones R, Whittaker SJ. Loss of heterozygosity on 10q and microsatellite instability in advanced stages of primary cutaneous T-cell lymphoma and possible association with homozygous deletion of PTEN. Blood. 2000;95:2937\u201342.","journal-title":"Blood"},{"key":"1562_CR12","doi-asserted-by":"publisher","first-page":"2330","DOI":"10.1002\/cam4.2870","volume":"9","author":"T Tian","year":"2020","unstructured":"Tian T, Li J, Xue T, Yu B, Li X, Zhou X. Microsatellite instability and its associations with the clinicopathologic characteristics of diffuse large B-cell lymphoma. Cancer Med. 2020;9:2330\u201342.","journal-title":"Cancer Med"},{"key":"1562_CR13","doi-asserted-by":"publisher","first-page":"1407","DOI":"10.1038\/modpathol.3800207","volume":"17","author":"E Niv","year":"2004","unstructured":"Niv E, Bomstein Y, Bernheim J, Lishner M. Microsatellite instability in gastric MALT lymphoma. Mod Pathol. 2004;17:1407\u201313.","journal-title":"Mod Pathol"},{"key":"1562_CR14","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1097\/00019606-200206000-00003","volume":"11","author":"M Skacel","year":"2002","unstructured":"Skacel M, Paris PL, Pettay JD, Tsiftsakis EK, Tubbs RR, Casey G, et al. Diffuse large B-cell lymphoma of the stomach: assessment of microsatellite instability, allelic imbalance, and trisomy of chromosomes 3, 12, and 18. Diagn Mol Pathol. 2002;11:75\u201382.","journal-title":"Diagn Mol Pathol"},{"key":"1562_CR15","doi-asserted-by":"publisher","first-page":"1509","DOI":"10.1097\/01.LAB.0000090157.13040.58","volume":"83","author":"AK Baumg\u00e4rtner","year":"2003","unstructured":"Baumg\u00e4rtner AK, Zettl A, Chott A, Ott G, M\u00fcller-Hermelink HK, Starostik P. High frequency of genetic aberrations in enteropathy-type T-cell lymphoma. Lab Invest. 2003;83:1509\u201316.","journal-title":"Lab Invest"},{"key":"1562_CR16","doi-asserted-by":"publisher","first-page":"812","DOI":"10.3109\/10428194.2012.723211","volume":"54","author":"A Degroote","year":"2013","unstructured":"Degroote A, Knippenberg L, Vander Borght S, Spaepen M, Matthijs G, Schaeffer DF, et al. Analysis of microsatellite instability in gastric mucosa-associated lymphoid tissue lymphoma. Leuk Lymphoma. 2013;54:812\u20138.","journal-title":"Leuk Lymphoma"},{"key":"1562_CR17","doi-asserted-by":"publisher","first-page":"212","DOI":"10.5582\/ddt.2025.01042","volume":"19","author":"S Maeda-Otsuka","year":"2025","unstructured":"Maeda-Otsuka S, Mijiddorj MT, Kajihara I, Sawamura S, Makino K, Masuguchi S, et al. Primary cutaneous lymphoma is a microsatellite stable tumor: an analysis of microsatellite instability. Drug Discov Ther. 2025;19:212\u20133.","journal-title":"Drug Discov Ther"},{"key":"1562_CR18","doi-asserted-by":"publisher","first-page":"3449","DOI":"10.3390\/curroncol29050278","volume":"29","author":"N Risinskaya","year":"2022","unstructured":"Risinskaya N, Mangasarova Y, Nikulina E, Kozhevnikova Y, Chabaeva J, Yushkova A, et al. STR Profiling Reveals Tumor Genome Instability in Primary Mediastinal B-Cell Lymphoma. Curr Oncol. 2022;29:3449\u201359.","journal-title":"Curr Oncol"},{"key":"1562_CR19","doi-asserted-by":"publisher","first-page":"5002","DOI":"10.1073\/pnas.0400945101","volume":"101","author":"A Duval","year":"2004","unstructured":"Duval A, Raphael M, Brennetot C, Poirel H, Buhard O, Aubry A, et al. The mutator pathway is a feature of immunodeficiency-related lymphomas. Proc Natl Acad Sci USA. 2004;101:5002\u20137.","journal-title":"Proc Natl Acad Sci USA"},{"key":"1562_CR20","doi-asserted-by":"publisher","first-page":"181","DOI":"10.3324\/haematol.2022.281226","volume":"108","author":"L Veloza","year":"2023","unstructured":"Veloza L, Cavalieri D, Missiaglia E, Ledoux-Pilon A, Bisig B, Pereira B, et al. Monomorphic epitheliotropic intestinal T-cell lymphoma comprises morphologic and genomic heterogeneity impacting outcome. Haematologica. 2023;108:181\u201395.","journal-title":"Haematologica"},{"key":"1562_CR21","doi-asserted-by":"crossref","unstructured":"Vallois D, Missiaglia E, Veloza L, Fischer A, Cavalieri D, Rattina V, et al. Divergent molecular pathways drive monomorphic epitheliotropic and enteropathy-associated intestinal T-cell lymphoma. Leukemia. 2025.","DOI":"10.1038\/s41375-025-02777-2"},{"key":"1562_CR22","doi-asserted-by":"publisher","first-page":"3013","DOI":"10.1158\/1078-0432.CCR-14-2195","volume":"21","author":"LR de Baaij","year":"2015","unstructured":"de Baaij LR, Berkhof J, van de Water JM, Sieniawski MK, Radersma M, Verbeek WH, et al. A New and Validated Clinical Prognostic Model (EPI) for Enteropathy-Associated T-cell Lymphoma. Clin Cancer Res. 2015;21:3013\u20139.","journal-title":"Clin Cancer Res"},{"key":"1562_CR23","doi-asserted-by":"publisher","first-page":"3093","DOI":"10.1200\/JCO.2011.40.2719","volume":"30","author":"F d\u2019Amore","year":"2012","unstructured":"d\u2019Amore F, Relander T, Lauritzsen GF, Jantunen E, Hagberg H, Anderson H, et al. Up-front autologous stem-cell transplantation in peripheral T-cell lymphoma: NLG-T-01. J Clin Oncol. 2012;30:3093\u20139.","journal-title":"J Clin Oncol"},{"key":"1562_CR24","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1038\/s41409-018-0294-2","volume":"54","author":"EH Phillips","year":"2019","unstructured":"Phillips EH, Lannon MM, Lopes A, Chadwick H, Jones G, Sieniawski M, et al. High-dose chemotherapy and autologous stem cell transplantation in enteropathy-associated and other aggressive T-cell lymphomas: a UK NCRI\/Cancer Research UK Phase II Study. Bone Marrow Transplant. 2019;54:465\u20138.","journal-title":"Bone Marrow Transplant"},{"key":"1562_CR25","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1182\/blood-2021-153709","volume":"138","author":"D Sibon","year":"2021","unstructured":"Sibon D, Khater S, Bruneau J, Brouzes C, Lhermitte L, Molina TJ, et al. The Eatl-001 trial: results of a Phase 2 Study of Brentuximab Vedotin and CHP followed by consolidation with high-dose therapy - autologous stem-cell transplantation (HDT-ASCT) in the frontline treatment of patients with enteropathy-associated T-Cell Lymphoma. Blood. 2021;138:136.","journal-title":"Blood"},{"key":"1562_CR26","doi-asserted-by":"publisher","first-page":"7452","DOI":"10.18632\/oncotarget.13918","volume":"8","author":"EA Kautto","year":"2017","unstructured":"Kautto EA, Bonneville R, Miya J, Yu L, Krook MA, Reeser JW, et al. Performance evaluation for rapid detection of pan-cancer microsatellite instability with MANTIS. Oncotarget. 2017;8:7452\u201363.","journal-title":"Oncotarget"},{"key":"1562_CR27","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.gpb.2020.02.001","volume":"18","author":"P Jia","year":"2020","unstructured":"Jia P, Yang X, Guo L, Liu B, Lin J, Liang H, et al. MSI Sensor-Pro: Fast, Accurate, and Matched-normal-sample-free Detection of Microsatellite Instability. Genomics Proteom Bioinforma. 2020;18:65\u201371.","journal-title":"Genomics Proteom Bioinforma"},{"key":"1562_CR28","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1136\/gut.2003.034579","volume":"54","author":"CM Wright","year":"2005","unstructured":"Wright CM, Dent OF, Newland RC, Barker M, Chapuis PH, Bokey EL, et al. Low level microsatellite instability may be associated with reduced cancer-specific survival in sporadic stage C colorectal carcinoma. Gut. 2005;54:103\u20138.","journal-title":"Gut"},{"key":"1562_CR29","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1016\/j.jmoldx.2019.11.005","volume":"22","author":"JK Benhamida","year":"2020","unstructured":"Benhamida JK, Hechtman JF, Nafa K, Villafania L, Sadowska J, Wang J, et al. Reliable clinical MLH1 promoter hypermethylation assessment using a high-throughput genome-wide methylation array platform. J Mol Diagn. 2020;22:368\u201375.","journal-title":"J Mol Diagn"},{"key":"1562_CR30","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1016\/S0016-5085(99)70510-X","volume":"116","author":"HF Vasen","year":"1999","unstructured":"Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116:1453\u20136.","journal-title":"Gastroenterology"},{"key":"1562_CR31","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1016\/j.jmoldx.2023.07.003","volume":"25","author":"JW Bacher","year":"2023","unstructured":"Bacher JW, Udho EB, Strauss EE, Vyazunova I, Gallinger S, Buchanan DD, et al. A Highly Sensitive Pan-Cancer Test for Microsatellite Instability. J Mol Diagnostics. 2023;25:806\u201326.","journal-title":"J Mol Diagnostics"},{"key":"1562_CR32","doi-asserted-by":"crossref","unstructured":"Helderman NC, Haupt S, Strobel F, Bohaumilitzky L, van Wezel T, Morreau H, et al. Microsatellite peak shifts in polymerase chain reaction-based fragment length data correlate with microsatellite instability degree and vary with mismatch repair gene defects and tumor size. JCO Precis Oncol. 2025 e2400731.","DOI":"10.1200\/PO-24-00731"},{"key":"1562_CR33","doi-asserted-by":"publisher","first-page":"1228","DOI":"10.1373\/clinchem.2019.303644","volume":"65","author":"MJ Duffy","year":"2019","unstructured":"Duffy MJ, Crown J. Biomarkers for predicting response to immunotherapy with immune checkpoint inhibitors in cancer patients. Clin Chem. 2019;65:1228\u201338.","journal-title":"Clin Chem"},{"key":"1562_CR34","doi-asserted-by":"publisher","first-page":"640","DOI":"10.21037\/atm.2019.10.116","volume":"7","author":"HX Wu","year":"2019","unstructured":"Wu HX, Wang ZX, Zhao Q, Chen DL, He MM, Yang LP, et al. Tumor mutational and indel burden: a systematic pan-cancer evaluation as prognostic biomarkers. Ann Transl Med. 2019;7:640.","journal-title":"Ann Transl Med"},{"key":"1562_CR35","volume":"36","author":"IA Voutsadakis","year":"2023","unstructured":"Voutsadakis IA. High tumor mutation burden (TMB) in microsatellite stable (MSS) colorectal cancers: Diverse molecular associations point to variable pathophysiology. Cancer Treat Res Commun. 2023;36:100746.","journal-title":"Cancer Treat Res Commun"},{"key":"1562_CR36","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-023-10920-4","volume":"23","author":"X Zheng","year":"2023","unstructured":"Zheng X, Lin J, Xiong J, Guan Y, Lan B, Li Y, et al. SETD2 variation correlates with tumor mutational burden and MSI along with improved response to immunotherapy. BMC Cancer. 2023;23:686.","journal-title":"BMC Cancer"},{"key":"1562_CR37","doi-asserted-by":"crossref","unstructured":"Lorenzi M, Amonkar M, Zhang J, Mehta S, Liaw KL Epidemiology of Microsatellite Instability High (MSI-H) and Deficient Mismatch Repair (dMMR) in solid tumors: a structured literature review. J Oncol. 2020;2020.","DOI":"10.1155\/2020\/1807929"},{"key":"1562_CR38","doi-asserted-by":"publisher","DOI":"10.1016\/j.jinf.2024.01.011","volume":"88","author":"Y Jiang","year":"2024","unstructured":"Jiang Y, Chen S, Xia M, Xu X, Peng J, Cai S. DNA mismatch repair in HIV-Associated Lymphoma: Lost in Translation? J Infect. 2024;88:106112.","journal-title":"J Infect"},{"key":"1562_CR39","doi-asserted-by":"publisher","first-page":"983","DOI":"10.1007\/s00428-007-0500-x","volume":"451","author":"P Cuilliere-Dartigues","year":"2007","unstructured":"Cuilliere-Dartigues P, Fabiani B, Dumont S, Copie-Bergman C, Couvelard A, Molina T, et al. Absence of mismatch repair deficiency in gastric lymphoma: an immunohistochemical study of MLH1 and MSH2 protein expression. Virchows Arch. 2007;451:983\u20134.","journal-title":"Virchows Arch"},{"key":"1562_CR40","doi-asserted-by":"publisher","first-page":"1011","DOI":"10.1007\/s00428-023-03520-x","volume":"482","author":"S El Hussein","year":"2023","unstructured":"El Hussein S, Medeiros LJ, Gruschkus SK, Wei P, Schlette E, Fang H, et al. Immune evasion phenotype is common in Richter transformation diffuse large B-cell lymphoma variant. Virchows Arch. 2023;482:1011\u20139.","journal-title":"Virchows Arch"},{"key":"1562_CR41","doi-asserted-by":"publisher","first-page":"1902","DOI":"10.1053\/j.gastro.2007.03.036","volume":"132","author":"RJ deLeeuw","year":"2007","unstructured":"deLeeuw RJ, Zettl A, Klinker E, Haralambieva E, Trottier M, Chari R, et al. Whole-genome analysis and HLA genotyping of enteropathy-Type T-cell lymphoma reveals 2 distinct lymphoma subtypes. Gastroenterology. 2007;132:1902\u201311.","journal-title":"Gastroenterology"},{"key":"1562_CR42","doi-asserted-by":"publisher","first-page":"3457","DOI":"10.1007\/s13277-014-2981-y","volume":"36","author":"C Feng","year":"2015","unstructured":"Feng C, Ding G, Jiang H, Ding Q, Wen H. Loss of MLH1 confers resistance to PI3K\u03b2 inhibitors in renal clear cell carcinoma with SETD2 mutation. Tumour Biol. 2015;36:3457\u201364.","journal-title":"Tumour Biol"},{"key":"1562_CR43","doi-asserted-by":"publisher","first-page":"1333","DOI":"10.1016\/j.urolonc.2011.08.012","volume":"31","author":"RB Singh","year":"2013","unstructured":"Singh RB, Amare Kadam PS. Investigation of tumor suppressor genes apart from VHL on 3p by deletion mapping in sporadic clear cell renal cell carcinoma (cRCC). Urol Oncol. 2013;31:1333\u201342.","journal-title":"Urol Oncol"},{"key":"1562_CR44","doi-asserted-by":"crossref","unstructured":"Li W Histone Methyltransferase SETD2 in Lymphoid Malignancy. In: Gallamini A, Juweid M, editors. Lymphoma. Brisbane (AU): Exon Publications Copyright: The Authors (2021).","DOI":"10.36255\/exon-publications.lymphoma.2021.setd2-lymphoid-malignancy"},{"key":"1562_CR45","doi-asserted-by":"crossref","unstructured":"Khan A, Metts JM, Collins LC, Mills CA, Li K, Brademeyer AL, et al. SETD2 maintains nuclear lamina stability to safeguard the genome. bioRxiv. (2023).","DOI":"10.1101\/2023.09.28.560032"},{"key":"1562_CR46","doi-asserted-by":"publisher","DOI":"10.1016\/j.critrevonc.2022.103773","volume":"177","author":"D Presti","year":"2022","unstructured":"Presti D, Dall\u2019Olio FG, Besse B, Ribeiro JM, Di Meglio A, Soldato D. Tumor infiltrating lymphocytes (TILs) as a predictive biomarker of response to checkpoint blockers in solid tumors: A systematic review. Crit Rev Oncol Hematol. 2022;177:103773.","journal-title":"Crit Rev Oncol Hematol"},{"key":"1562_CR47","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1016\/S2468-1253(24)00091-8","volume":"9","author":"D Wankhede","year":"2024","unstructured":"Wankhede D, Yuan T, Kloor M, Halama N, Brenner H, Hoffmeister M. Clinical significance of combined tumour-infiltrating lymphocytes and microsatellite instability status in colorectal cancer: a systematic review and network meta-analysis. Lancet Gastroenterol Hepatol. 2024;9:609\u201319.","journal-title":"Lancet Gastroenterol Hepatol"}],"container-title":["Blood Cancer Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41408-026-01562-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41408-026-01562-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41408-026-01562-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T14:03:03Z","timestamp":1790258583000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41408-026-01562-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,3]]},"references-count":47,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["1562"],"URL":"https:\/\/doi.org\/10.1038\/s41408-026-01562-3","relation":{},"ISSN":["2044-5385"],"issn-type":[{"value":"2044-5385","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,3]]},"assertion":[{"value":"23 January 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 June 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 June 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 July 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing financial interests","order":1,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Ethics"}},{"value":"The study protocol was approved by the local ethical committees: the Commission cantonale d\u2019\u00e9thique de la recherche sur l\u2019\u00eatre humain (CER-VD, protocol 382\/14) and the Comit\u00e9 de Protection des Personnes-Ile-de-France IX (CPP08\/009), in accordance with the Declaration of Helsinki.","order":2,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Ethics"}}],"article-number":"161"}}