{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:57:55Z","timestamp":1791896275722,"version":"4.3.4"},"reference-count":64,"publisher":"Rockefeller University Press","issue":"9","content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2012,8,27]]},"abstract":"<jats:p>Splenic marginal zone lymphoma (SMZL) is a B cell malignancy of unknown pathogenesis, and thus an orphan of targeted therapies. By integrating whole-exome sequencing and copy-number analysis, we show that the SMZL exome carries at least 30 nonsilent gene alterations. Mutations in NOTCH2, a gene required for marginal-zone (MZ) B cell development, represent the most frequent lesion in SMZL, accounting for \u223c20% of cases. All NOTCH2 mutations are predicted to cause impaired degradation of the NOTCH2 protein by eliminating the C-terminal PEST domain, which is required for proteasomal recruitment. Among indolent B cell lymphoproliferative disorders, NOTCH2 mutations are restricted to SMZL, thus representing a potential diagnostic marker for this lymphoma type. In addition to NOTCH2, other modulators or members of the NOTCH pathway are recurrently targeted by genetic lesions in SMZL; these include NOTCH1, SPEN, and DTX1. We also noted mutations in other signaling pathways normally involved in MZ B cell development, suggesting that deregulation of MZ B cell development pathways plays a role in the pathogenesis of \u223c60% SMZL. These findings have direct implications for the treatment of SMZL patients, given the availability of drugs that can target NOTCH, NF-\u03baB, and other pathways deregulated in this disease.<\/jats:p>","DOI":"10.1084\/jem.20120904","type":"journal-article","created":{"date-parts":[[2012,8,13]],"date-time":"2012-08-13T21:51:59Z","timestamp":1344894719000},"page":"1537-1551","update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":358,"title":["The coding genome of splenic marginal zone lymphoma: activation of\n                    <i>NOTCH2<\/i>\n                    and other pathways regulating marginal zone development"],"prefix":"10.1084","volume":"209","author":[{"given":"Davide","family":"Rossi","sequence":"first","affiliation":[{"name":"Division of Hematology 1 and 9"},{"name":"Laboratory of Medical Informatics, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy 1 and 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