RT Journal Article
T1 Prognostic impact and landscape of NOTCH1 mutations in chronic lymphocytic leukemia (CLL): a study on 852 patients
A1 Weissmann, Sandra
A1 Roller, Andreas
A1 Jeromin, Sabine
A1 Hernández, Jesús María
A1 Abáigar, María
A1 Hernández Rivas, José Ángel
A1 Grossmann, Vera
A1 Haferlach, Claudia
A1 Kern, Wolfgang
A1 Haferlach, Torsten
A1 Schnittger, Susanne
A1 Kohlmann, Alexander
AB Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults. Recently, recurrent activating mutations of NOTCH1 have been reported in up to 12% of CLL patients, underlining the relevance of NOTCH1 mutations (NOTCH1mut) as an independent negative prognostic marker.1, 2, 3 NOTCH1mut in CLL are known to be located predominantly within the C-terminal PEST domain, frequently resulting in a truncated protein that is more stable than the wild-type one and activates the NOTCH1 signaling pathway.3The aim of this study was to determine the frequency and prognostic impact of NOTCH1mut in CLL and to evaluate the range of mutational burden. We used the massively parallel amplicon next-generation deep-sequencing (NGS) technology (454 Life Sciences, Branford, CT, USA), enabling us to detect also low-level mutational clones, which have not been studied in detail yet. We here investigated a large unselected cohort of adult CLL patients for mutations in NOTCH1.
SN 0887-6924
SN 1476-5551
YR 2013
FD 2013
LK https://hdl.handle.net/20.500.14352/95772
UL https://hdl.handle.net/20.500.14352/95772
LA eng
NO Weissmann, S., Roller, A., Jeromin, S. et al. Prognostic impact and landscape of NOTCH1 mutations in chronic lymphocytic leukemia (CLL): a study on 852 patients. Leukemia 27, 2393–2396 (2013). https://doi.org/10.1038/leu.2013.218
DS Docta Complutense
RD 4 abr 2025