{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,21]],"date-time":"2025-12-21T08:25:26Z","timestamp":1766305526224,"version":"3.40.5"},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,12,24]],"date-time":"2019-12-24T00:00:00Z","timestamp":1577145600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["1R01GM114358"],"award-info":[{"award-number":["1R01GM114358"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The genetic and molecular abnormalities underlying histological transformation (HT) of nodal marginal zone lymphoma (NMZL) to diffuse large B\u2010cell lymphoma (DLBCL) are not well known. While del(20q12) is commonly deleted in myelodysplastic syndrome it has not previously been associated with DLBCL. We recently described a case of DLBCL harboring del(20q12) in a patient with a history of MZL involving lymph nodes and skin. Here we report eight matched cases of transformed MZL(tMZL): six from nodal MZL (tNMZL) and two from splenic MZL (tSMZL). We found &gt;20% del(20q12) in 4\/6 tNMZL, but not in tSMZL, nor in unmatched DLBCL, MZL with increased large cells (MZL\u2010ILC), or MZL cases. To examine whether transformation is associated with a specific gene signature, the matched cases were analyzed for multiplexed gene expression using the Nanostring PanCancer Pathways panel. The differential gene expression signature revealed enrichment of inflammatory markers, as previously observed in MZL. Also, tMZL and de novo DLBCL were enriched for extracellular matrix proteins such as collagen and fibronectin, vascular development protein <jats:italic>PDGFR\u03b2<\/jats:italic>, DNA repair protein <jats:italic>RAD51<\/jats:italic>, and oncogenic secrete protein <jats:italic>Wnt11<\/jats:italic>. A subset of genes is expressed differentially in del(20q12) tMZL cases vs non\u2010del(20q12) tMZL cases. These results suggest a specific pathway is involved in the histological transformation of NMZL, which could serve as an indicator of aggressive clinical course in this otherwise indolent neoplasm.<\/jats:p>","DOI":"10.1002\/ajh.25694","type":"journal-article","created":{"date-parts":[[2019,12,5]],"date-time":"2019-12-05T14:58:18Z","timestamp":1575557898000},"page":"238-244","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Deletion 20q12 is associated with histological transformation of nodal marginal zone lymphoma to diffuse large B\u2010cell lymphoma"],"prefix":"10.1002","volume":"95","author":[{"given":"Lei","family":"Qian","sequence":"first","affiliation":[{"name":"Department of Medical Genetics &amp; Molecular Biochemistry, Lewis Katz School of Medicine Temple University  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Craig","family":"Soderquist","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology Columbia University Medical Center  New York Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"April","family":"Schrank\u2010Hacker","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Hospital of the University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Honore","family":"Strauser","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Hospital of the University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Dupoux","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Hospital of the University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chi Ngong","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Hospital of the University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer R.","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Hospital of the University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ang","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Biology Temple University  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonali","family":"Majumdar","sequence":"additional","affiliation":[{"name":"Wistar Genomics Shared Resource The Wistar Institute  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tran","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Wistar Genomics Shared Resource The Wistar Institute  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandy","family":"Widura","sequence":"additional","affiliation":[{"name":"Wistar Genomics Shared Resource The Wistar Institute  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel J.","family":"Landsburg","sequence":"additional","affiliation":[{"name":"Department of Medicine, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania"},{"name":"Lymphoma Program, Abramson Cancer Center University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen J.","family":"Schuster","sequence":"additional","affiliation":[{"name":"Department of Medicine, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania"},{"name":"Lymphoma Program, Abramson Cancer Center University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard H. 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