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A letter to the editor is presented in response to the research study "MGA, a suppressor of MYC, Is Recurrently Inactivated in High Risk Chronic Lymphocytic Leukemia," which appeared in the previous issue.

We investigated immunodeficiency-related non-Hodgkin lymphoma for the presence of molecular alterations affecting negative regulators of the Janus family protein tyrosine kinase/signal transducer and activator of transcription pathway. Protein tyrosine phosphatase, non-receptor type 6/Src homology 2-containing tyrosine phosphatase-1 epigenetic silencing was recurrent in primary effusion lymphoma (100%), and diffuse large B-cell lymphoma (63%), with a higher prevalence in the non-germinal centre subtype, and was associated with the activation of the Janus family protein tyrosine kinase/signal transducer and activator of transcription 3 pathway. Suppressor of cytokine signalling ( SOCS)1 and SOCS3 epigenetic silencing were occasionally detected, whereas SOCS1 was frequently mutated in diffuse large B-cell lymphoma and polymorphic post-transplant lymphoproliferative disorders, possibly as a cause of aberrant somatic hypermutation. However, the mutation profile of the coding region of the gene was different from that expected from the aberrant somatic hypermutation process, suggesting that, at least in some cases, SOCS1 mutations may have been selected for their functional activity. Copyright © 2012 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

The article presents a study on 605 patients with chronic lymphocytic leukemia (CLL) focusing on the impact of NOTCH1 and SFB3 mutations on the risk of transformation of CLL to Richter syndrome (RS). Techniques like Sanger sequencing, flow cytometry and multivariate analysis were used during the study. The SFB3 mutations showed no impact on RS development and were absent in all the CLL patients. 40 to 50 percent of NOTCH1 mutated patients developed RS.