Table 2. Spectrum of mutations in the ABL KD and SH3-SH2 domain of BCR/ABL gene according to the disease phase.
CP | AP | BC | Total | PPhV2 score | |
---|---|---|---|---|---|
Patients with imatinib resistance | 76 | 9 | 9 | 94 | |
Patients with mutations in BCR/ABL gene | 29 | 5 | 7 | 41 | |
Patients with mutations in kinase domain | 37 | ||||
P loop mutations | 16 | ||||
M244V | 1 | 0 | 0 | 0.907 | |
K247E | 1 | 0 | 0 | 0.814 | |
G250E | 2 | 1 | 1 | 0.999 | |
Y253F | 1 | 1 | 0 | 1 | |
Y253H | 0 | 2 | 4 | 1 | |
E255V | 1 | 0 | 0 | 0.951 | |
del L248-K274* | 1 | 0 | 0 | ||
Gatekeeper | 5 | ||||
T315I | 3 | 0 | 1 | 1 | |
F317L | 1 | 0 | 0 | 1 | |
Catalytic domain | 11 | ||||
M351T | 1 | 0 | 1 | 0.927 | |
M351V | 1 | 0 | 0 | 0.927 | |
E355G | 1 | 0 | 0 | 0.986 | |
Ins GAA at 357th amino acid* | 1 | 0 | 0 | ||
F359V | 1 | 0 | 0 | 0.989 | |
F359I | 1 | 0 | 0 | 0.989 | |
35bp ins of intron 8 at exon 8–9 junction | 4 | 0 | 0 | ||
Activation domain | 3 | ||||
L387M | 1 | 1 | 0 | 0.969 | |
H396R | 1 | 0 | 0 | 0.983 | |
Patients with mutations in SH3-SH2 domain | 4 | ||||
K84E* | 1 | 0 | 0 | 0.973 | |
Y167H* | 1 | 0 | 0 | 0.677 | |
del Exon 4 | 2 | 0 | 0 | ||
Multiple mutations | 2 | ||||
G250E-E255K | 1 | 0 | 0 | ||
Ins CAGG* at 303th amino acid and F493L | 1 |
* Novel mutations detected