{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:27:24Z","timestamp":1790965644570,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,2,16]],"date-time":"2020-02-16T00:00:00Z","timestamp":1581811200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Hematological Oncology"],"published-print":{"date-parts":[[2020,8]]},"abstract":"Abstract<\/jats:title>\n The majority of ocular adnexal (OA) lymphomas (OAL) are extranodal marginal zone lymphomas (MZL). First high throughput sequencing (HTS) studies on OA\u2010MZL showed inconsistent results and the distribution of mutations in reactive lymphoid lesions of this anatomic region has not yet been sufficiently addressed.<\/jats:p>\n We characterized OAL and lymphoid lesions of the OA by targeted HTS. The study included 34 OA\u2010MZL, 11 chronic conjunctivitis, five mature small cell B\u2010cell lymphomas spreading to the OA, five diseases with increase of IgG4+ plasma cells, three Burkitt lymphomas (BL), three diffuse large B\u2010cell lymphomas (DLBCL), three mantle cell lymphomas, three idiopathic orbital inflammations\/orbital pseudo tumors (PT), and three OA lymphoid hyperplasia.<\/jats:p>\n \n All cases were negative for\n Chlamydia<\/jats:italic>\n . The mutational number was highest in BL and lowest in PT. The most commonly (and exclusively) mutated gene in OA\u2010MZL was\n TNFAIP3<\/jats:italic>\n (10 of 34 cases). Altogether, 20 out of 34 patients harbored mutually exclusive mutations of either\n TNFAIP3<\/jats:italic>\n ,\n BCL10<\/jats:italic>\n ,\n MYD88<\/jats:italic>\n ,\n ATM<\/jats:italic>\n ,\n BRAF<\/jats:italic>\n , or\n NFKBIE<\/jats:italic>\n , or nonexclusive mutations of\n IRF8<\/jats:italic>\n ,\n TNFRSF14<\/jats:italic>\n ,\n KLHL6<\/jats:italic>\n , and\n TBL1XR1<\/jats:italic>\n , all encoding for NK\u2010\u03baB pathway compounds or regulators. Thirteen patients (38%) had, to a great part, mutually exclusive mutations of chromatin modifier\u2010encoding genes:\n KMT2D<\/jats:italic>\n ,\n CREBBP<\/jats:italic>\n ,\n BCL7A<\/jats:italic>\n ,\n DNMT3A<\/jats:italic>\n ,\n EP300<\/jats:italic>\n , or\n HIST1H1E<\/jats:italic>\n . Only four patients harbored co\u2010occurring mutations of genes encoding for NK\u2010\u03baB compounds and chromatin modifiers. Finally,\n PTEN<\/jats:italic>\n ,\n KMT2D<\/jats:italic>\n ,\n PRDM1<\/jats:italic>\n , and\n HIST1H2BK<\/jats:italic>\n mutations were observable in reactive lymphoid lesions too, while such instances were devoid of NF\u2010\u03baB compound mutations and\/or mutations of acetyltransferase\u2010encoding genes.\n <\/jats:p>\n In conclusion, 80% of OA\u2010MZL display mutations of either NK\u2010\u03baB compounds or chromatin modifiers. Lymphoid lesions of the OA bearing NF\u2010\u03baB compound mutations and\/or mutations of acetyltransferase\u2010encoding genes highly likely represent lymphomas.<\/jats:p>","DOI":"10.1002\/hon.2718","type":"journal-article","created":{"date-parts":[[2020,2,3]],"date-time":"2020-02-03T14:02:33Z","timestamp":1580738553000},"page":"284-292","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["High throughput sequencing reveals high specificity of\n TNFAIP3<\/i>\n mutations in ocular adnexal marginal zone B\u2010cell lymphomas"],"prefix":"10.1002","volume":"38","author":[{"given":"Visar","family":"Vela","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Pathology University Hospital Basel Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darius","family":"Juskevicius","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Pathology University Hospital Basel Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena M.","family":"Gerlach","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Pathology University Hospital Basel Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Meyer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Pathology University Hospital Basel Basel Switzerland"},{"name":"Eye Clinic University Hospital Basel Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Graber","sequence":"additional","affiliation":[{"name":"Cantonal Institute of Pathology Liestal Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gieri","family":"Cathomas","sequence":"additional","affiliation":[{"name":"Cantonal Institute of Pathology Liestal Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Dirnhofer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Pathology University Hospital Basel Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1100-3819","authenticated-orcid":false,"given":"Alexandar","family":"Tzankov","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Pathology University Hospital Basel Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,16]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"312","article-title":"Ocular adnexal lymphoma: clinical presentation, diagnosis, treatment and prognosis","volume":"8","author":"Kamal S","year":"2016","journal-title":"J Mol Biomark Diagn"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAP.0b013e3181e4abdb"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djj248"},{"key":"e_1_2_7_5_1","unstructured":"SharmaT KamathM.Diagnosis and management of orbital lymphoma. 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