Table 1.
Hematological Features at Diagnosis, Hematopoietic Stem Cell Transplantation and Current Status in 21 Children with homozygous CBL Mutations in JMML Cells
| ID | Sex | Age and Hematological Features at Diagnosis | HSCT | Last fo low-up | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Age (years) | WBC (×109/L) | % blasts PB/BM | Platelets (×109/L) | Spleen Sizea | Karyotype | Age (years) | MC / CC | Alive/Dead | Age (years) | ||
| A053 | M | 0.1 | 112 | 1 / 2 | 20 | 9 | normal | - | - | A | 18.2 |
| A054 | F | 1.1 | 36 | 1 / 4 | 95 | 7 | normal | - | - | A | 17.7 |
| D256 | M | 3.6 | 13 | 1 / 6 | 18 | 10 | normal | - | - | A | 13.0 |
| D048 | F | 1.6 | 23 | 0 / 2 | 46 | 9 | normal | - | - | D | 9.9 |
| D389 | M | 0.6 | 14 | 0 / 6 | 67 | 8 | normal | - | - | A | 7.5 |
| D088 | M | 0.8 | 46 | 3 / nd | 32 | 12 | normal | - | - | D | 7.3 |
| NL075 | F | 1.5 | 55 | 5 / 2 | 55 | 12 | normal | 1.8 | MC | A | 7.3 |
| CZ039 | M | 1.1 | 29 | 3 / 4 | 284 | 6 | normal | 1.2 | MC/CCc | A | 7.0 |
| D451 | M | 0.7 | 27 | 2 / 3 | 86 | 6 | normal | 1.2 | MC/CCd | A | 6.2 |
| D647 | F | 2.5 | 67 | 1 / 0 | 117 | 6 | normal | 3.9 | CC | A | 6.1 |
| I066 | F | 5.0 | 21 | 2 / 10 | 33 | 5 | normal | 5.7 | MC | D | 6.0 |
| SC084 | M | 1.4 | 33 | 0 / 0 | 33 | 13 | normal | 2.0 | NA | A | 4.8 |
| D104 | M | 2.2 | 27 | 0 / 2 | 232 | 5 | normal | - | - | D | 3.9 |
| D347 | M | 0.9 | 72 | 4 / 6 | 48 | 10 | 45,XY,−16 | 1.2 | MC | D | 3.4 |
| D703 | F | 1.4 | 27 | 2 / 1 | 15 | 4 | 46,XX+der (8) | 1.7 | MC | A | 3.0 |
| UPN1333 | M | 0.6 | 36 | 3 / 4 | 46 | 4 | normal | 1.1 | MC | D | 2.6 |
| D251 | F | 0.6 | 31 | 0 / 20 | 37 | 4 | normal | 1.1 | CC | D | 2.4 |
| UPN1778 | M | 1.3 | 22 | 0 / 1.5 | 61 | 5 | normal | - | - | A | 2.0 |
| UPN1125 | F | 1.3 | 196 | 4 / 5 | 47 | 4 | normal | 1.7 | CC | D | 2.1 |
| D774 | F | 1.5 | 22 | 0 / 4 | 266 | 3 | normal | - | - | A | 1.5 |
| UPN1241 | F | 0.6 | 43 | 5 / 3 | 62 | 4 | normal | 1.1 | MC | D | 1.5 |
ID, patient identification. M, male. F, female. WBC, white blood count. PB, peripheral blood. BM, bone marrow. HSCT, -hematopoietic stem cell transplantation. A, alive. D, dead. MC, mixed chimerism. CC, complete chimerism. NA, not analyzed.
a
in cm below costal margin in left midclavicular line
b All patients had received a myeloablative preparative regimen prior to HSCT. One patient with MC died of progressive disease (UPN 1333), the other deaths were due to transplant related toxicities.
c
patient converted back to CC after donor lymphocyte infusion
d
patient converted back to CC without therapy