Novel genetic variants within the PSMB1, PSMB5, PSMB6, PSMB8, PSMB9, and PSMB10 genes in pretreatment (n = 47) and posttreatment (n = 29) MM samples
Gene . | Nucleotide change . | Amino acid change . | Samples in which variant identified, treatment (clinical response) . |
---|---|---|---|
PSMB1 | A/G | I50V | 1 pretreatment: bortezomib (PR) |
PSMB5 | C/G | S112R | 1 pretreatment: bortezomib (PR) |
C/T | A218V | 1 pretreatment: Dex (SD) | |
PSMB6 | C/T | A195V | 1 pretreatment: Dex (SD) |
G/A | A239T | 1 pretreatment: Dex (SD) | |
PSMB8 | G/A | G8R | 1 pretreatment: bortezomib (PD); 1 posttreatment: bortezomib (PR) |
T/C | A43A | 1 pretreatment: bortezomib (SD); 1 posttreatment: bortezomib (NC) | |
C/A | Q49K | 10 pretreatment: 6 bortezomib (2 PR, 3 SD, 1 PD), 4 Dex (1 MR, 3 SD); 3 posttreatment: 1 bortezomib (PR), 2 Dex (NC) | |
PSMB9 | G/A | A25T | 1 pretreatment: bortezomib (PR) |
PSMB10 | C/T | P33S | 1 pretreatment: bortezomib (PR) |
C/T | P154P | 1 posttreatment: bortezomib (PR) | |
G/A | G239S | 1 pretreatment: bortezomib (SD) |
Gene . | Nucleotide change . | Amino acid change . | Samples in which variant identified, treatment (clinical response) . |
---|---|---|---|
PSMB1 | A/G | I50V | 1 pretreatment: bortezomib (PR) |
PSMB5 | C/G | S112R | 1 pretreatment: bortezomib (PR) |
C/T | A218V | 1 pretreatment: Dex (SD) | |
PSMB6 | C/T | A195V | 1 pretreatment: Dex (SD) |
G/A | A239T | 1 pretreatment: Dex (SD) | |
PSMB8 | G/A | G8R | 1 pretreatment: bortezomib (PD); 1 posttreatment: bortezomib (PR) |
T/C | A43A | 1 pretreatment: bortezomib (SD); 1 posttreatment: bortezomib (NC) | |
C/A | Q49K | 10 pretreatment: 6 bortezomib (2 PR, 3 SD, 1 PD), 4 Dex (1 MR, 3 SD); 3 posttreatment: 1 bortezomib (PR), 2 Dex (NC) | |
PSMB9 | G/A | A25T | 1 pretreatment: bortezomib (PR) |
PSMB10 | C/T | P33S | 1 pretreatment: bortezomib (PR) |
C/T | P154P | 1 posttreatment: bortezomib (PR) | |
G/A | G239S | 1 pretreatment: bortezomib (SD) |
MR indicates minimal response; NC, no change; PD, progressive disease; SD, stable disease; and Dex, high-dose dexamethasone.