Recurrent mutations of NOTCH genes in follicular lymphoma identify a distinctive subset of tumours. Issue 3 (18th September 2014)

• Record Type: Journal Article
• Authors: Karube, Kennosuke; Martínez, Daniel; Royo, Cristina; Navarro, Alba; Pinyol, Magda; Cazorla, Maite; Castillo, Paola; Valera, Alexandra; Carrió, Anna; Costa, Dolors; Colomer, Dolors; Rosenwald, Andreas; Ott, German; Esteban, Daniel; Giné, Eva; López‐Guillermo, Armando; Campo, Elias
• Is Part Of: Journal of pathology. Volume 234:Issue 3(2014)
• Page Start: 423
• Page End: 430
• Publication Date: 2014-09-18
• Subjects: Pathology -- Periodicals; 616.07
• DOI: 10.1002/path.4428
• Languages: English
• ISSNs: 0022-3417

Abstract

<abstract abstract-type="main" id="path4428-abs-0001"> <title>Abstract</title> <p id="path4428-para-0001">Follicular lymphoma (FL) is one of the most common malignant lymphomas. 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‐of‐function mutations of <italic>NOTCH1</italic> or <italic>NOTCH2</italic> have recently been reported in several B cell lymphoid neoplasms but the role of these mutations in FL is not known. In this study we investigated the mutational status of these genes in 112 FLs. <italic>NOTCH1</italic> and <italic>NOTCH2</italic> mutations were identified in five and two cases, respectively (total 7/112, 6.3%). All mutations predicted for truncated protein in the PEST domain and were identical to those identified in other B cell lymphoid neoplasms. <italic>NOTCH</italic>‐mutated FL cases were characterized by lower frequency of t(14;18) (14% versus 69%, <italic>p =</italic> 0.01), higher incidence of splenic involvement (71% versus 25%, <italic>p =</italic> 0.02) and female predominance (100% versus 55%, <italic>p =</italic> 0.04). A diffuse large B cell lymphoma (DLBCL) component was more frequently identified in <italic>NOTCH</italic>‐mutated FL than in wild‐type cases (57% versus 18%, <italic>p =</italic> 0.03). These results indicate that <italic>NOTCH</italic> mutations are uncommon in FL but may occur in a subset of cases with distinctive, characteristic, clinicopathological features. Copyright © 2014 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.</p> </abstract>