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

Table 2 High-frequency recurrently mutated genes in CLL

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]

*Richter's transformation, in which CLL transforms to a higher-grade malignancy.

ISSN: 1756-994X