Different impact of NOTCH1 and SF3B1 mutations on the risk of chronic lymphocytic leukemia transformation to Richter syndrome.

D Rossi, S Rasi, V Spina, M Fangazio… - British journal of …, 2012 - search.ebscohost.com
D Rossi, S Rasi, V Spina, M Fangazio, S Monti, M Greco, C Ciardullo, R Famà, S Cresta…
British journal of haematology, 2012search.ebscohost.com
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.
Abstract
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.
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