{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:51:53Z","timestamp":1760143913038,"version":"build-2065373602"},"reference-count":55,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T00:00:00Z","timestamp":1709769600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Sight Denmark","award":["2019-333"],"award-info":[{"award-number":["2019-333"]}]},{"name":"Synoptik Fonden","award":["2019-333"],"award-info":[{"award-number":["2019-333"]}]},{"name":"Candys Foundation","award":["2019-333"],"award-info":[{"award-number":["2019-333"]}]},{"name":"Fabrikant Einar Willumsens Mindelegat","award":["2019-333"],"award-info":[{"award-number":["2019-333"]}]},{"name":"Fr\u00f8ken Amalie J\u00f8rgensens Mindelegat","award":["2019-333"],"award-info":[{"award-number":["2019-333"]}]},{"name":"Torben og Alice Frimodts Fond","award":["2019-333"],"award-info":[{"award-number":["2019-333"]}]},{"name":"Frimodt-Heineke Fonden","award":["2019-333"],"award-info":[{"award-number":["2019-333"]}]},{"name":"Else og Mogens Wedell-Wedellsborgs Fond","award":["2019-333"],"award-info":[{"award-number":["2019-333"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>To provide insights into targetable oncogenic pathways, this retrospective cohort study investigated the genetic profile of 26 patients with diffuse large B-cell lymphoma, not otherwise specified (DLBCL-NOS), and two patients with high-grade B-cell lymphoma with MYC and BCL2 rearrangements (HGBCL) presenting in the ocular adnexa. Pathogenic variants and copy number variations in 128 B-cell lymphoma-relevant genes were analyzed by targeted next-generation sequencing. Genetic subtypes were determined with the LymphGen algorithm. Primary ocular adnexal DLBCL-NOS constituted 50% (n = 14) and was generally characterized by non-germinal center B-cell origin (non-GCB) (n = 8, 57%), and LymphGen MCD subtype (n = 5, 36%). Primary ocular adnexal DLBCL-NOS presented pathogenic variants in genes involved in NF-\u03baB activation and genes which are recurrently mutated in other extranodal lymphomas of non-GCB origin, including MYD88 (n = 4, 29%), CD79B (n = 3, 21%), PIM1 (n = 3, 21%), and TBL1XR1 (n = 3, 21%). Relapsed DLBCL-NOS presenting in the ocular adnexa (n = 6) were all of non-GCB origin and frequently of MCD subtype (n = 3, 50%), presenting with a similar genetic profile as primary ocular adnexal DLBCL-NOS. These results provide valuable insights into genetic drivers in ocular adnexal DLBCL-NOS, offering potential applications in future precision medicine.<\/jats:p>","DOI":"10.3390\/ijms25063094","type":"journal-article","created":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T08:59:37Z","timestamp":1709801977000},"page":"3094","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The Genetic Profile of Large B-Cell Lymphomas Presenting in the Ocular Adnexa"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9147-6930","authenticated-orcid":false,"given":"Stine Dahl","family":"Vest","sequence":"first","affiliation":[{"name":"Department of Pathology, Copenhagen University Hospital\u2014Rigshospitalet, 2100 Copenhagen, Denmark"},{"name":"Department of Ophthalmology, Copenhagen University Hospital\u2014Rigshospitalet, 2100 Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1491-5514","authenticated-orcid":false,"given":"Patrick Rene Gerhard","family":"Eriksen","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Copenhagen University Hospital\u2014Rigshospitalet, 2100 Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9940-2891","authenticated-orcid":false,"given":"Fleur A.","family":"de Groot","sequence":"additional","affiliation":[{"name":"Department of Hematology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2998-2066","authenticated-orcid":false,"given":"Ruben A. L.","family":"de Groen","sequence":"additional","affiliation":[{"name":"Department of Hematology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-9548-3133","authenticated-orcid":false,"given":"Anne H. R.","family":"Kleij","sequence":"additional","affiliation":[{"name":"Department of Hematology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina Knudsen","family":"Kirkegaard","sequence":"additional","affiliation":[{"name":"Department of Pathology, Copenhagen University Hospital\u2014Rigshospitalet, 2100 Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Kamper","sequence":"additional","affiliation":[{"name":"Department of Hematology, Aarhus University Hospital, 8200 Aarhus, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4082-1183","authenticated-orcid":false,"given":"Peter Kristian","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Copenhagen University Hospital\u2014Rigshospitalet, 2100 Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6753-8129","authenticated-orcid":false,"given":"Christian","family":"von Buchwald","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Copenhagen University Hospital\u2014Rigshospitalet, 2100 Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"de Nully Brown","sequence":"additional","affiliation":[{"name":"Department of Hematology, Copenhagen University Hospital\u2014Rigshospitalet, 2100 Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1054-1460","authenticated-orcid":false,"given":"Jens Folke","family":"Kiilgaard","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Copenhagen University Hospital\u2014Rigshospitalet, 2100 Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1628-6256","authenticated-orcid":false,"given":"Joost S. P.","family":"Vermaat","sequence":"additional","affiliation":[{"name":"Department of Hematology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5906-7670","authenticated-orcid":false,"given":"Steffen","family":"Heegaard","sequence":"additional","affiliation":[{"name":"Department of Pathology, Copenhagen University Hospital\u2014Rigshospitalet, 2100 Copenhagen, Denmark"},{"name":"Department of Ophthalmology, Copenhagen University Hospital\u2014Rigshospitalet, 2100 Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,7]]},"reference":[{"key":"ref_1","unstructured":"Swerdlow, S.H., Campo, E., Harris, N.L., Jaffe, E.S., Pileri, S.A., Stein, H., and Thiele, J. (2017). WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, International Agency for Research in Cancer (IARC). 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