Article
The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development.
The Journal of experimental medicine - 27 Aug 2012
Rossi Davide, Trifonov Vladimir, Fangazio Marco, Bruscaggin Alessio, Rasi Silvia, Spina Valeria, Monti Sara, Vaisitti Tiziana, Arruga Francesca, Famà Rosella, Ciardullo Carmela, Greco Mariangela, Cresta Stefania, Piranda Daniela, Holmes Antony, Fabbri Giulia, Messina Monica, Rinaldi Andrea, Wang Jiguang, Agostinelli Claudio, Piccaluga Pier Paolo, Lucioni Marco, Tabbò Fabrizio, Serra Roberto, Franceschetti Silvia, Deambrogi Clara, Daniele Giulia, Gattei Valter, Marasca Roberto, Facchetti Fabio, Arcaini Luca, Inghirami Giorgio, Bertoni Francesco, Pileri Stefano A, Deaglio Silvia, Foà Robin, Dalla-Favera Riccardo, Pasqualucci Laura, Rabadan Raul, Gaidano Gianluca
Abstract excerpt
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 ∼20% of...
Topics
- B-Lymphocytes
- Chromatin Assembly and Disassembly
- DNA-Binding Proteins
- Exome
- Gene Expression Regulation, Neoplastic