Table 1.

Frequency of mutations in relapsed or refractory DLBCL and TLy

Gene mutated% Mutations rrDLBCL N = 25c% Mutations ABC N = 13% Mutations GCB N = 11% Mutations TLy N = 13% Mutations Dx DLBCL N = 138
TP53a3223453113
MLL22815363813
MLL3a282327237
FOXO1a,b24153689
CREBBP200454613
MYD88203192312
PIM120380814
STAT6a16036384
FAS161518237
CD79B1623909
MPEG1a16151883
BCL2120273110
EZH2120272313
CCND3a1215981
MYCa128982
GNA138892314
CD588150237
NFKBIE88981
B2M8018812
NFKBIZa889150
TNFRSF148018238
MEF2B409238
SOCS1409151
CARD11480812
  • NOTE: These genes were selected and ranked based on their overall frequency by exome sequencing in rrDLBCL that excluded cases of TLy.

  • Abbreviations: Dx, diagnosis; TLy, a DLBCL arising in the context of histologic transformation from an indolent lymphoma.

  • aGenes indicated in the table above are significant at a threshold of P < 0.05. Raw P values are as follows: MPEG1: P = 0.020; MLL3: P = 0.020; CCND3: P = 0.026; STAT6: P = 0.033; TP53: P = 0.033; NFKBIZ: P = 0.023; and MYC: P = 0.047.

  • bThe frequency of FOXO1 mutations is based on targeted sequencing of 18 QC2-rrDLBCL samples and the frequency in 279 diagnostic samples based on the study by Trinh and colleagues (29).

  • cIn one rrDLBCL sample, the molecular subtype was not available, thus it was not included in the GCB or ABC categories. That case harbored mutations in MLL2, MLL3, and MYC.