Characteristics of patients with mutation detection in the regulatory domains of BCR-ABL
| Patient no. . | Age, y/sex . | Disease duration, mo . | Time on IM, mo . | Disease phase . | Kinase domain sequencing* . | SH3-SH2 domain sequencing* . | Cytogenetics/FISH/quantitative RT-PCR† . |
|---|---|---|---|---|---|---|---|
| 1 | 52/F | 21 | 18 | CP | WT | N231D (100%) | 0%/0%/0%‡ |
| 2 | 84/F | 66 | 40 | CP | WT | T212R (100%), S154N (50%) | 0%/0.5%/NA |
| 3 | 38/F | 82 | 42 | CP | WT | A196V (40%) | 0%/0%/0.29% |
| 4 | 72/F | 87 | 67 | BC | H396P (100%), Q346R (50%) | K84N (50%), R47C (50%) | 10%/12.5%/NA |
| 5 | 54/F | 47 | 27 | AP | E292V (100%) | N231I (60%) | 0%/7.5%/0.27% |
| 6 | 54/M | 45 | 26 | CP | WT | G144E (100%) | 0%/0.3%/0.10% |
| 7 | 37/F | 26 | 22 | CP | WT | E123Q (60%) | 5%/2.5%/0.91% |
| Patient no. . | Age, y/sex . | Disease duration, mo . | Time on IM, mo . | Disease phase . | Kinase domain sequencing* . | SH3-SH2 domain sequencing* . | Cytogenetics/FISH/quantitative RT-PCR† . |
|---|---|---|---|---|---|---|---|
| 1 | 52/F | 21 | 18 | CP | WT | N231D (100%) | 0%/0%/0%‡ |
| 2 | 84/F | 66 | 40 | CP | WT | T212R (100%), S154N (50%) | 0%/0.5%/NA |
| 3 | 38/F | 82 | 42 | CP | WT | A196V (40%) | 0%/0%/0.29% |
| 4 | 72/F | 87 | 67 | BC | H396P (100%), Q346R (50%) | K84N (50%), R47C (50%) | 10%/12.5%/NA |
| 5 | 54/F | 47 | 27 | AP | E292V (100%) | N231I (60%) | 0%/7.5%/0.27% |
| 6 | 54/M | 45 | 26 | CP | WT | G144E (100%) | 0%/0.3%/0.10% |
| 7 | 37/F | 26 | 22 | CP | WT | E123Q (60%) | 5%/2.5%/0.91% |
CP indicates chronic phase; BC, blast crisis; WT, wild-type; and NA, not applicable.
Estimates of mutant sequence are listed in parentheses.
Quantitative RT-PCR levels are reported as international standard values.
The RT-PCR protocol for sequencing was a nested, more sensitive protocol than the single-step amplification procedure for quantitative RT-PCR.