Chromosome 11q aberrations assessed by single nucleotide polymorphism array and CBL D390V allele burden determined by sequencing in different cell populations
| Timepoint . | Cell type . | 11q-LOH* . | 11q-gain† . | CBL D390V allele burden . |
|---|---|---|---|---|
| Diagnosis of AML | BM MNCs | Yes | Yes | 92.6%ठ|
| Complete remission of AML | PB granulocytes | Yes | No | 92.8% (90.1%-96.5%)‡|| |
| PB monocytes | Yes | No | 92.2% (88.9%-95.5%)‡|| | |
| PB B lymphocytes | Yes | No | 83.3% (75.9%-94.1%)‡|| | |
| PB T lymphocytes | No¶ | No | 55.4% (52.4%-59.3%)‡||¶ | |
| Skin biopsy | No | No | 48.6%ठ| |
| Buccal mucosa | ND | ND | Heterozygous# | |
| Hair follicle | ND | ND | Heterozygous# |
| Timepoint . | Cell type . | 11q-LOH* . | 11q-gain† . | CBL D390V allele burden . |
|---|---|---|---|---|
| Diagnosis of AML | BM MNCs | Yes | Yes | 92.6%ठ|
| Complete remission of AML | PB granulocytes | Yes | No | 92.8% (90.1%-96.5%)‡|| |
| PB monocytes | Yes | No | 92.2% (88.9%-95.5%)‡|| | |
| PB B lymphocytes | Yes | No | 83.3% (75.9%-94.1%)‡|| | |
| PB T lymphocytes | No¶ | No | 55.4% (52.4%-59.3%)‡||¶ | |
| Skin biopsy | No | No | 48.6%ठ| |
| Buccal mucosa | ND | ND | Heterozygous# | |
| Hair follicle | ND | ND | Heterozygous# |
BM, bone marrow; LOH, loss-of-heterozygosity; MNCs, mononuclear cells; ND, not determined; PB, peripheral blood.
LOH data are also presented in supplemental Figure 2.
LOH of chromosome 11 position 59764127-134942626.
Gain of chromosome 11 position 88486678-134938470.
CBL D390V allele burden relative to combined D390V and WT alleles assessed by pyrosequencing.
Average of measurements from one time point.
Average and range of measurements at 3 time points during CR 5 to 19 months after AML diagnosis.
The data suggest a small fraction of T lymphocytes with 11q-LOH (purity of T-lymphocytes in pyrosequencing 97%-98%).
Concluded from Sanger sequencing.