Clinical features in ERCC6L2 subjects with and without HM
| Variable . | ERCC6L2 subjects without malignancy, n = 33 . | ERCC6L2 subjects with malignancy, n = 15 . | P . | Data available, n . |
|---|---|---|---|---|
| Age at diagnosis | ||||
| Median, y (range) | 12 (2-57) | 29 (12-65) | .0007 | 33; 15 |
| CBC | ||||
| Median leukocytes, 1 × 10⁹/L (range) | 3.25 (1.3-7.7) | 2.85 (1.2-5.8) | .2891 | 28; 12 |
| Median ANC, 1×10⁹/L (range) | 1.16 (0.25-3.9) | 0.65 (0.1-4.7) | .6350 | 26; 12 |
| Median hemoglobin, g/dL (range) | 10.80 (3.4-15) | 10.10 (5.9-14) | .1918 | 29; 13 |
| Median MCV, fL (range) | 101.5 (90-114) | 98.0 (87-105) | .3720 | 8; 5 |
| Median platelets, 1 × 10⁹/L (range) | 63.50 (4-195) | 80.0 (10-175) | .9623 | 30; 13 |
| Median reticulocytes, 1 × 10⁹/L (range) | 58.0 (33.0-104.1) | 29.1 (11.9-98.0) | .0530 | 15; 6 |
| TP53 status | ||||
| N of patients with TP53 clone (%) | 15∗ (84.2) | 11 (100) | .1845 | 19; 11 |
| N of mutations, range | 0–4 | 1–2 | 18; 11 | |
| Median VAF % (range) | 12.0 (1.3-36.0) | 38.0 (6.0-94.0) | .0020 | 16; 9 |
| BM | ||||
| Hypocellular, n (%) | 25 (96) | 4 (36) | <.0001 | 26; 11 |
| Normal, n (%) | 1 (4) | 2 (18) | ||
| Hypercellular, n (%) | N/A | 5 (45) |
| Variable . | ERCC6L2 subjects without malignancy, n = 33 . | ERCC6L2 subjects with malignancy, n = 15 . | P . | Data available, n . |
|---|---|---|---|---|
| Age at diagnosis | ||||
| Median, y (range) | 12 (2-57) | 29 (12-65) | .0007 | 33; 15 |
| CBC | ||||
| Median leukocytes, 1 × 10⁹/L (range) | 3.25 (1.3-7.7) | 2.85 (1.2-5.8) | .2891 | 28; 12 |
| Median ANC, 1×10⁹/L (range) | 1.16 (0.25-3.9) | 0.65 (0.1-4.7) | .6350 | 26; 12 |
| Median hemoglobin, g/dL (range) | 10.80 (3.4-15) | 10.10 (5.9-14) | .1918 | 29; 13 |
| Median MCV, fL (range) | 101.5 (90-114) | 98.0 (87-105) | .3720 | 8; 5 |
| Median platelets, 1 × 10⁹/L (range) | 63.50 (4-195) | 80.0 (10-175) | .9623 | 30; 13 |
| Median reticulocytes, 1 × 10⁹/L (range) | 58.0 (33.0-104.1) | 29.1 (11.9-98.0) | .0530 | 15; 6 |
| TP53 status | ||||
| N of patients with TP53 clone (%) | 15∗ (84.2) | 11 (100) | .1845 | 19; 11 |
| N of mutations, range | 0–4 | 1–2 | 18; 11 | |
| Median VAF % (range) | 12.0 (1.3-36.0) | 38.0 (6.0-94.0) | .0020 | 16; 9 |
| BM | ||||
| Hypocellular, n (%) | 25 (96) | 4 (36) | <.0001 | 26; 11 |
| Normal, n (%) | 1 (4) | 2 (18) | ||
| Hypercellular, n (%) | N/A | 5 (45) |
ANC, absolute neutrophile count; MCV, mean corpuscular volume.
A clone was identified in 1 additional patient during follow-up.