Clinical characteristics of short telomere syndrome–mediated MDS/AML
| Characteristic . | (n = 18) . |
|---|---|
| Median age at diagnosis, y | 53 (12-71) |
| Male sex, no. (%) | 12 (67) |
| Mutant gene | |
| TERT | 3 |
| RTEL1 | 3 |
| DKC1 | 2 |
| TR | 1 |
| NAF1 | 1 |
| Unknown | 8 |
| Myeloid neoplasm, no. (%) | |
| MDS | 14 (78) |
| AML arising from MDS | 3 (17) |
| Treatment-related AML | 1 (6) |
| Bone marrow cellularity for MDS,* n = 14,no. (%) | |
| Hypocellular | 7 (50) |
| Patchy (both hyper/hypocellular) | 0 (0) |
| Normocellular | 3 (21) |
| Hypercellular | 4 (29) |
| Bone marrow cellularity for AML, n = 4, no. (%) | |
| Hypocellular | 1 (25) |
| Patchy (both hyper/hypocellular) | 2 (50) |
| Normocellular | 1 (25) |
| Hypercellular | 0 (0) |
| Cytogenetics, MDS/AML, no. (%) | |
| Monosomy 7 alone | 3 (17) |
| Monosomy 7 with another abnormality | 7 (39) |
| Other abnormality | 7 (38.5) |
| Unknown | 1 (5.5) |
| Characteristic . | (n = 18) . |
|---|---|
| Median age at diagnosis, y | 53 (12-71) |
| Male sex, no. (%) | 12 (67) |
| Mutant gene | |
| TERT | 3 |
| RTEL1 | 3 |
| DKC1 | 2 |
| TR | 1 |
| NAF1 | 1 |
| Unknown | 8 |
| Myeloid neoplasm, no. (%) | |
| MDS | 14 (78) |
| AML arising from MDS | 3 (17) |
| Treatment-related AML | 1 (6) |
| Bone marrow cellularity for MDS,* n = 14,no. (%) | |
| Hypocellular | 7 (50) |
| Patchy (both hyper/hypocellular) | 0 (0) |
| Normocellular | 3 (21) |
| Hypercellular | 4 (29) |
| Bone marrow cellularity for AML, n = 4, no. (%) | |
| Hypocellular | 1 (25) |
| Patchy (both hyper/hypocellular) | 2 (50) |
| Normocellular | 1 (25) |
| Hypercellular | 0 (0) |
| Cytogenetics, MDS/AML, no. (%) | |
| Monosomy 7 alone | 3 (17) |
| Monosomy 7 with another abnormality | 7 (39) |
| Other abnormality | 7 (38.5) |
| Unknown | 1 (5.5) |
All of the normocelluar and hypercellular MDS patients (7 of 7) had ring sideroblasts in >15% of cells examined.