@article{Ilaria Del Giudice_Davide Rossi_Sabina Chiaretti_Marilisa Marinelli_Simona Tavolaro_Sara Gabrielli_Luca Laurenti_Roberto Marasca_Silvia Rasi_Marco Fangazio_Anna Guarini_Gianluca Gaidano_Robin Foà_2012, place={Pavia, Italy}, title={NOTCH1 mutations in +12 chronic lymphocytic leukemia (CLL) confer an unfavorable prognosis, induce a distinctive transcriptional profiling and refine the intermediate prognosis of +12 CLL}, volume={97}, url={https://haematologica.org/article/view/6248}, DOI={10.3324/haematol.2011.060129}, abstractNote={Trisomy 12, the third most frequent chromosomal aberration in chronic lymphocytic leukemia (CLL), confers an intermediate prognosis. In our cohort of 104 untreated patients carrying +12, <em>NOTCH1</em> mutations occurred in 24% of cases and were associated to unmutated <em>IGHV</em> genes (<em>P</em>=0.003) and +12 as a sole cytogenetic abnormality (<em>P</em>=0.008). <em>NOTCH1</em> mutations in +12 CLL associated with an approximately 2.4 fold increase in the risk of death, a significant shortening of survival (<em>P</em><0.01) and proved to be an independent predictor of survival in multivariate analysis. Analogous to +12 CLL with <em>TP53</em> disruption or del(11q), <em>NOTCH1</em> mutations in +12 CLL conferred a significantly worse survival compared to that of +12 CLL with del(13q) or +12 only. The overrepresentation of cell cycle/proliferation related genes of +12 CLL with <em>NOTCH1</em> mutations suggests the biological contribution of <em>NOTCH1</em> mutations to determine a poor outcome. <em>NOTCH1</em&gt; mutations refine the intermediate prognosis of +12 CLL.}, number={3}, journal={Haematologica}, author={Ilaria Del Giudice and Davide Rossi and Sabina Chiaretti and Marilisa Marinelli and Simona Tavolaro and Sara Gabrielli and Luca Laurenti and Roberto Marasca and Silvia Rasi and Marco Fangazio and Anna Guarini and Gianluca Gaidano and Robin Foà}, year={2012}, month={Mar.}, pages={437-441} }