@article{Robin Foà_Ilaria Del Giudice_Anna Guarini_Davide Rossi_Gianluca Gaidano_2013, place={Pavia, Italy}, title={Clinical implications of the molecular genetics of chronic lymphocytic leukemia}, volume={98}, url={https://haematologica.org/article/view/6653}, DOI={10.3324/haematol.2012.069369}, abstractNote={Genetics and molecular genetics have contributed to clarify the biological bases of the clinical heterogeneity of chronic lymphocytic leukemia. In recent years, our knowledge of the molecular genetics of chronic lymphocytic leukemia has significantly broadened, offering potential new clinical implications. Mutations of <em>TP53</em> and <em>ATM</em> add prognostic information independently of fluorescence <em>in situ</em> hybridization cytogenetic stratification. In addition, next generation sequencing technologies have allowed previously unknown genomic alterations in chronic lymphocytic leukemia to be identified. Mutations of <em>NOTCH1</em>, <em>SF3B1</em> and <em>BIRC3</em> have been associated with short time to progression and survival. Each of these lesions recognizes a different distribution across different clinical phases and biological subgroups of the disease. The clinical implications of these molecular lesions are in some instances well established, such as in the case of patients with <em>TP53</em> disruption, who should be considered for alternative therapies/allogeneic stem cell transplant upfront, or in patients with <em>ATM</em> disruption, who are candidates to rituximab-based immunochemotherapy. On the contrary, <em>NOTCH1</em>, <em>SF3B1</em> and <em>BIRC3</em> mutations appear to have a specific significance, the clinical value of which is currently being validated, i.e. association to Richter syndrome transformation for <em>NOTCH1</em> mutations, and short progression-free survival after treatment for <em>SF3B1</em> mutations. Certainly, these new lesions have helped clarify the molecular bases of chronic lymphocytic leukemia aggressiveness beside <em>TP53</em&gt; disruption. This review covers the recent advancements in our understanding of the molecular genetics of chronic lymphocytic leukemia and discusses how they are going to translate into clinical implications for patient management.}, number={5}, journal={Haematologica}, author={Robin Foà and Ilaria Del Giudice and Anna Guarini and Davide Rossi and Gianluca Gaidano}, year={2013}, month={Apr.}, pages={675-685} }