Summary of the proportion of patients across the MDS subgroups presenting with LOH
| MDS subtype . | Patients, n = 119 . | Deletions, n (%) . | Amplification, n (%) . | UPD greater than 2 Mb, n (%) . |
|---|---|---|---|---|
| 5q− syndrome | 16 | 1 (6.3) | 0 | 6 (37.5) |
| RA + RCMDnc | 56 | 4 (7.1) | 6 (10.7) | 27 (48.2) |
| RARS + RCMD RS | 24 | 4 (16.7) | 1 (4.2) | 13 (54.1) |
| RCMDac | 17 | 2 (11.8) | 1 (5.9) | 7 (41.1) |
| RAEB | 6 | 1 (16.7) | 1 (16.7) | 2 (33.3) |
| Control subjects | 33 | 0 | 0 | 4 (12)* |
| MDS subtype . | Patients, n = 119 . | Deletions, n (%) . | Amplification, n (%) . | UPD greater than 2 Mb, n (%) . |
|---|---|---|---|---|
| 5q− syndrome | 16 | 1 (6.3) | 0 | 6 (37.5) |
| RA + RCMDnc | 56 | 4 (7.1) | 6 (10.7) | 27 (48.2) |
| RARS + RCMD RS | 24 | 4 (16.7) | 1 (4.2) | 13 (54.1) |
| RCMDac | 17 | 2 (11.8) | 1 (5.9) | 7 (41.1) |
| RAEB | 6 | 1 (16.7) | 1 (16.7) | 2 (33.3) |
| Control subjects | 33 | 0 | 0 | 4 (12)* |
The UPD rate in 33 normal subjects was 12%, whereas it was at least 33% in various low-risk MDS subtypes. Deletions and amplification were only detected in MDS patients.
The median size of UPD in healthy control is 1.21 Mb (range, 0.3-6.7 Mb) and the median size in MDS patients is 3.78 Mb (range, 2.03-138.57 Mb).