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 | Apoptosis, DNA repair | Rare [76] | Yes [46] | Inactivating mutations | Unmutated | Poor [46] | |
SF3B1 | Splicing factor | Rare [76] | Yes [46] | K700E | Unmutated | ||
NOTCH1 | Developmental processes | Rare [76] | Yes [39] | P2515Rfs*4 | Unmutated | Poor [46] | |
MYD88 | TLR adaptor | Unknown | Unknown | L265P | Mutated | None | |
ATM | DNA repair | Unknown | Unknown | Inactivating mutations | Unmutated | Poor [114] | |
BIRC3 | NF-κB pathway inhibitor | Absent [59] | Yes [59] | Inactivating mutations | Unmutated | Poor [46] |