Patient characteristics
| . | Patient 1 . | Patient 2 . |
|---|---|---|
| Age, mo | 10 | 10 |
| Sex | Male | Male |
| Liver, cm | 12 | 5 |
| Spleen, cm | 8 | 10 |
| WBCs, × 109/L | 72.1 | 31.8 |
| Monocytes, % | 18.5 | 20 |
| Blasts, % | 4 | 2 |
| Hb, g/dL | 8.9 | 5.4 |
| Platelets, × 109/L | 59 | 100 |
| HbF, % | 2.1 | 1.7 |
| BM blasts, % | 7 | 5 |
| Karyotype | 46,XY [20/20] | 46,XY [20/20] |
| Monosomy 7 (FISH) | Negative | Negative |
| Spontaneous colony formation | Positive | Positive |
| Gene mutation | NRAS, G12D 35G > A | NRAS, G12S 34G > A |
| Treatment | IFN-α-2b, 6-MP | None |
| Observation period, mo | 231 | 103 |
| Outcome | Alive | Alive |
| Fraction of mutant alleles, % (pyrosequencing) | ||
| Nail (whole) | 24 | 12.5 (average) |
| Nail (left hand) | ND | 26 |
| Nail (right hand) | ND | 13 |
| Nail (left foot) | ND | 8 |
| Nail (right foot) | ND | 3 |
| Buccal smear cells | 43 | 21 |
| Hair bulbs | 5 | ND |
| Family studies | ||
| Father | Wild-type | Wild-type |
| Mother | Wild-type | Wild-type |
| Sibling | ND | Wild-type |
| . | Patient 1 . | Patient 2 . |
|---|---|---|
| Age, mo | 10 | 10 |
| Sex | Male | Male |
| Liver, cm | 12 | 5 |
| Spleen, cm | 8 | 10 |
| WBCs, × 109/L | 72.1 | 31.8 |
| Monocytes, % | 18.5 | 20 |
| Blasts, % | 4 | 2 |
| Hb, g/dL | 8.9 | 5.4 |
| Platelets, × 109/L | 59 | 100 |
| HbF, % | 2.1 | 1.7 |
| BM blasts, % | 7 | 5 |
| Karyotype | 46,XY [20/20] | 46,XY [20/20] |
| Monosomy 7 (FISH) | Negative | Negative |
| Spontaneous colony formation | Positive | Positive |
| Gene mutation | NRAS, G12D 35G > A | NRAS, G12S 34G > A |
| Treatment | IFN-α-2b, 6-MP | None |
| Observation period, mo | 231 | 103 |
| Outcome | Alive | Alive |
| Fraction of mutant alleles, % (pyrosequencing) | ||
| Nail (whole) | 24 | 12.5 (average) |
| Nail (left hand) | ND | 26 |
| Nail (right hand) | ND | 13 |
| Nail (left foot) | ND | 8 |
| Nail (right foot) | ND | 3 |
| Buccal smear cells | 43 | 21 |
| Hair bulbs | 5 | ND |
| Family studies | ||
| Father | Wild-type | Wild-type |
| Mother | Wild-type | Wild-type |
| Sibling | ND | Wild-type |
Hb indicates hemoglobin; 6-MP, 6-mercaptopurine; and ND, not done.