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Table 2 High-frequency recurrently mutated genes in CLL

From: Chronic lymphocytic leukemia: molecular heterogeneity revealed by high-throughput genomics

Gene Frequency in CLL (%) Likely gene function Frequency in MBL (%) Richter's* or chemo-refractory cases Gene mutation hotspots More common IGHV status Prognostic significance
TP53 7.5 to 13 [34, 39, 75] Apoptosis, DNA repair Rare [76] Yes [46] Inactivating mutations Unmutated Poor [46]
SF3B1 10 to 14 [34, 40, 75, 113] Splicing factor Rare [76] Yes [46] K700E Unmutated Poor [34, 40]
NOTCH1 10 to 17 [33, 34, 39, 40, 75, 113] Developmental processes Rare [76] Yes [39] P2515Rfs*4 Unmutated Poor [46]
MYD88 3 to 8 [33, 34, 75] TLR adaptor Unknown Unknown L265P Mutated None
ATM 8 to 15 [34, 75, 114] DNA repair Unknown Unknown Inactivating mutations Unmutated Poor [114]
BIRC3 4 [39, 59] NF-κB pathway inhibitor Absent [59] Yes [59] Inactivating mutations Unmutated Poor [46]
  1. *Richter's transformation, in which CLL transforms to a higher-grade malignancy.