Characteristics of patients with germline GATA2 mutations and der(1;7)(q10;p10)
| Parameter . | . |
|---|---|
| No. of patients | 25 |
| Age at diagnosis, y (median [range]) | 16 (11-58) |
| Sex, % (cases) | |
| Female | 40 (10/25) |
| Male | 60 (15/25) |
| Immunodeficiency | 48% (12/25) |
| Myeloid malignancy | |
| Low-grade MDS* | 64% (16/25) |
| Advanced MDS† | 36% (9/25) |
| GATA2 mutations, % (cases) | |
| Null (nonsense, frameshift, splice site | 48 (12/25) |
| Missense | 36 (9/25) |
| Intron 4 | 16 (4/25) |
| Cytogenetics, % (cases) | |
| der(1;7) only | 24 (6/25) |
| der(1;7) 1 trisomy 8‡ | 52 (13/25) |
| der(1;7) 1 monosomy 7 | 4 (1/25) |
| der(1;7) 1 trisomy 8 1 monosomy 7 | 4 (1/25) |
| der(1;7) 1 other aberrations | 16 (4/25) |
| Disappearing der(1;7) clone§ | 95% (18/19) |
| Somatic mutations | 24% (6/25) |
| Alive at last follow-up | 88% (22/25) |
| Parameter . | . |
|---|---|
| No. of patients | 25 |
| Age at diagnosis, y (median [range]) | 16 (11-58) |
| Sex, % (cases) | |
| Female | 40 (10/25) |
| Male | 60 (15/25) |
| Immunodeficiency | 48% (12/25) |
| Myeloid malignancy | |
| Low-grade MDS* | 64% (16/25) |
| Advanced MDS† | 36% (9/25) |
| GATA2 mutations, % (cases) | |
| Null (nonsense, frameshift, splice site | 48 (12/25) |
| Missense | 36 (9/25) |
| Intron 4 | 16 (4/25) |
| Cytogenetics, % (cases) | |
| der(1;7) only | 24 (6/25) |
| der(1;7) 1 trisomy 8‡ | 52 (13/25) |
| der(1;7) 1 monosomy 7 | 4 (1/25) |
| der(1;7) 1 trisomy 8 1 monosomy 7 | 4 (1/25) |
| der(1;7) 1 other aberrations | 16 (4/25) |
| Disappearing der(1;7) clone§ | 95% (18/19) |
| Somatic mutations | 24% (6/25) |
| Alive at last follow-up | 88% (22/25) |
Low-grade MDS includes MDS with no blast increase (peripheral blood <1%, bone marrow <5%). This includes refractory cytopenia of childhood (RCC).
Includes 1 patient each with 20% and 25% bone marrow blasts.
P23 carries a hyperdiploid clone with trisomies of chromosomes 14, 19, and 21 in addition to trisomy 8.
Five patients had no detectable clone at follow-up examination and one had significant reduction in clone size (Figure 1D).