pISSN 2234-3806eISSN 2234-3814
Table. 2.
Molecular and cytogenetic characteristics of patients with TP53 mutations according to the 5th WHO classification and ICC
| Characteristics | WHO | ICC | ICC | WHO/ICC | P (B vs. C) | P (A vs. D) | |||
|---|---|---|---|---|---|---|---|---|---|
| A: MDS (blasts<20%) (N=116) |
B: MDS (blasts<10%) (N=88) |
C: MDS/AML (10%≤blasts<20%) (N=28) |
D: AML (blasts≥20%) (N=194) |
||||||
| TP53 mutation, N (%) | |||||||||
| Single | 107/116 (92.2%) | 81/88 (92.0%) | 26/28 (92.9%) | 172/194 (88.7%) | 1.000 | 0.309 | |||
| Multiple (≥2) | 9/116 (7.8%) | 7/88 (8.0%) | 2/28 (7.1%) | 22/194 (11.3%) | |||||
| Median VAF of TP53 mutation, % (IQR) | 40.4 (16.9–69.6) | 38.3 (14.4–68.6) | 43.2 (28.8–76.8) | 43.1 (21.9–69.8) | 0.297 | 0.958 | |||
| 17p loss, N (%) | 32/115 (27.8%) | 18/87 (20.7%) | 14/28 (50.0%) | 75/188 (39.9%) | 0.003 | 0.033 | |||
| Chromosome study | 30/113 (26.5%) | 17/85 (20.0%) | 13/28 (46.4%) | 72/188 (38.3%) | 0.006 | 0.037 | |||
| TP53 FISH | 20/79 (25.3%) | 12/63 (19.0%) | 8/16 (50.0%) | 21/50 (42.0%) | 0.011 | 0.047 | |||
| Cytogenetics, N (%) | |||||||||
| NK | 9/113 (8.0%) | 6/85 (7.1%) | 3/28 (10.7%) | 15/188 (8.0%) | 0.396 | 0.854 | |||
| CK | 87/113 (77.0%) | 64/85 (75.3%) | 23/28 (82.1%) | 149/188 (79.3%) | |||||
| Others |
17/113 (15.0%) | 15/85 (17.6%) | 2/28 (7.1%) | 24/188 (12.8%) | |||||
| Any MR gene mutations, N (%) | 23/116 (19.8%) | 19/88 (21.6%) | 4/28 (14.3%) | 37/194 (19.1%) | 0.398 | 0.871 | |||
| ASXL1 | 8/116 (6.9%) | 5/88 (5.7%) | 3/28 (10.7%) | 11/194 (5.7%) | |||||
| BCOR | 0/116 (0%) | 0/88 (0%) | 0/28 (0%) | 5/194 (2.6%) | |||||
| EZH2 | 4/116 (3.4%) | 4/88 (4.5%) | 0/28 (0%) | 6/194 (3.1%) | |||||
| SF3B1 | 3/116 (2.6%) | 3/88 (3.4%) | 0/28 (0%) | 1/194 (0.5%) | |||||
| SRSF2 | 1/116 (0.9%) | 0/88 (0%) | 1/28 (3.6%) | 4/194 (2.1%) | |||||
| STAG2 | 2/116 (1.7%) | 1/88 (1.1%) | 1/28 (3.6%) | 6/194 (3.1%) | |||||
| U2AF1 | 6/116 (5.2%) | 6/88 (6.8%) | 0/28 (0%) | 2/194 (1.0%) | |||||
| ZRSR2 | 2/116 (1.7%) | 2/88 (2.3%) | 0/28 (0%) | 3/194 (1.5%) | |||||
| RUNX1 | 4/116 (3.4%) | 2/88 (2.3%) | 2/28 (7.1%) | 11/194 (5.7%) |
*These include cytogenetic abnormalities that are neither normal nor complex karyotypes (defined as having three or more abnormalities).
Abbreviations: MDS, myelodysplastic neoplasm; ICC, International Consensus Classification; IQR, interquartile range; FISH, fluorescence in-situ hybridization; NK, normal karyotype; CK, complex karyotype; MR, myelodysplasia-related
Ann Lab Med 2025;45:160~169 https://doi.org/10.3343/alm.2024.0351
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