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The t(14;18)(q32;q21) translocation is found in about 80% of cases and plays an important role in lymphomagenesis. However, the molecular mechanisms involved in the development and transformation of this lymphoma are not fully understood. Gain\u2010of\u2010function mutations of NOTCH1<\/jats:styled-content><\/jats:italic> or NOTCH2<\/jats:styled-content><\/jats:italic> have recently been reported in several B cell lymphoid neoplasms but the role of these mutations in FL<\/jats:styled-content> is not known. In this study we investigated the mutational status of these genes in 112 FLs<\/jats:styled-content>. NOTCH1<\/jats:styled-content><\/jats:italic> and NOTCH2<\/jats:styled-content><\/jats:italic> mutations were identified in five and two cases, respectively (total 7\/112, 6.3%). All mutations predicted for truncated protein in the PEST<\/jats:styled-content> domain and were identical to those identified in other B cell lymphoid neoplasms. NOTCH<\/jats:styled-content><\/jats:italic>\u2010mutated FL<\/jats:styled-content> cases were characterized by lower frequency of t(14;18) (14% versus 69%, p =<\/jats:italic> 0.01), higher incidence of splenic involvement (71% versus 25%, p =<\/jats:italic> 0.02) and female predominance (100% versus 55%, p =<\/jats:italic> 0.04). A diffuse large B cell lymphoma (DLBCL<\/jats:styled-content>) component was more frequently identified in NOTCH<\/jats:styled-content><\/jats:italic>\u2010mutated FL<\/jats:styled-content> than in wild\u2010type cases (57% versus 18%, p =<\/jats:italic> 0.03). These results indicate that NOTCH<\/jats:styled-content><\/jats:italic> mutations are uncommon in FL<\/jats:styled-content> but may occur in a subset of cases with distinctive, characteristic, clinicopathological features. Copyright \u00a9 2014 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.<\/jats:p>","DOI":"10.1002\/path.4428","type":"journal-article","created":{"date-parts":[[2014,8,21]],"date-time":"2014-08-21T06:53:29Z","timestamp":1408604009000},"page":"423-430","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["Recurrent mutations of NOTCH<\/scp><\/i> genes in follicular lymphoma identify a distinctive subset of tumours"],"prefix":"10.1002","volume":"234","author":[{"given":"Kennosuke","family":"Karube","sequence":"first","affiliation":[{"name":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer, Hospital Cl\u00ednic, Universitat de Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer, Hospital Cl\u00ednic, Universitat de Barcelona 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