Concurrent gene mutations in patients with relapsed/refractory chronic lymphocytic leukemia (CLL) are linked to a worse outcome, according to an article published online ahead of print in Blood.1

Certain mutations such as TP53, NOTCH1, and SF3B1 impair the prognosis of patients with CLL receiving frontline therapy.

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However the clinical implications of these mutations in the relapsed/refractory setting were unclear. Therefore investigators used targeted next-generation sequencing of the genomes of 114 patients with relapsed/refractory CLL.

The investigators performed clustering according to the number of mutated genes and the number of recurrence of gene mutations.

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Results revealed that the number of genes affected by mutation was ≥ 2, 1, and 0 in 43 (38%) patients, 49 (43%), and 22 (19%), respectively. 

Recurrent combinations of 2 or more mutations of TP53, SF3B1, and ATM occurred in 22 (19%) of patients. This profile was linked to a decreased progression-free survival (12 months vs 22.5 months in the other patients; P = .003).


  1. Guièze R, Robbe P, Clifford R, et al. Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL [published online ahead of print October 29, 2015]. Blood. doi: 10.1182/blood-2015-05-647578.