Table 2.

The major genetic aberrations observed in diffuse large B cell lymphoma.

Lymphoma type	Gene	Genetic aberration	Frequency of mutated cases (%)	Dysregulated biological process or pathway	References
DLBCL	BCL2	t(14;18)(q32;q21)	20	Intrinsic pathway of apoptosis	Willis et al., 2000
GCB DLBCL	BCL2	Point mutations, indels	43	Intrinsic pathway of apoptosis	Schuetz et al., 2012
DLBCL	BCL6	t(3;14)(q27;q32)	5–10	Germinal center B cell reaction	Willis et al., 2000
DLBCL	BCL6	Somatic point mutations	16	Disruption of negative autoregulation of BCL6 expression	Pascualucci et al., 2003
ABC DLBCL	CARD11	Missense mutations in coiled-coil domain	9.6	NF-κB pathway	Lenz et al., 2008
	CD79B	Y196 ITAM mutation, ITAM deletion	21	Chronic BCR signaling, NF-κB pathway	Davis et al., 2010;Schmitz et al., 2018
	CD79A	ITAM deletion, splice site mutation	2.9
GCB DLBCL	EZH2	Point mutations on Tyr641	21.7	Trimethylation of Lys27of histone H3 (H3K27)	Morin et al., 2010
DLBCL	MYC	t(8;14)(q24;q32)	10	G1 phase of the cell cycle	Willis et al., 2000
ABC DLBCL	MYD88	Missense mutations	37	JAK-STAT pathway	Ngo et al., 2011;Schmitz et al., 2018
DLBCL (N1 andBN2 subtypes)	NOTCH1, NOTCH2	Frameshift truncating mutations	11.7	Notch signaling pathway	Arcaini et al., 2015
ABC DLBCL	TNFAIP3 (A20)	Nonsense mutations, frameshift indels, splice site mutations, deletions	~55	NF-κB pathway	Compagno et al., 2009
ABC DLBCL	TCF4	Gain/amplification	40.7	Transcriptional activatorof IGHM and MYC	Jain et al., 2019

ABC: Activated B cell type; GCB: germinal center B cell type; ITAM: immunoreceptor tyrosine-based activation motif; BCR: B cell receptor.