Mutational profiles of WHOest, WHOnew, and ICCnew
| . | MP-WHOest n = 549∗ . | MD-WHOest n = 654∗ . | WHOnew n = 356∗ . | q value† MD-WHOest vs WHOnew . | ICCnew n = 241∗ . | q value† MD-WHOest vs ICCnew . |
|---|---|---|---|---|---|---|
| Assessed genes | 49.9 ± 42.0; 35.0 (1.0-131.0) | 54.8 ± 39.7; 40.0 (1.0-135.0) | 47.0 ± 37.2; 36.0 (1.0-132.0) | <0.001 | 44.8 ± 37.6; 34.0 (1.0-132.0) | <0.001 |
| Mutated genes | 3.5 ± 2.3; 4.0 (0.0-12.0) | 3.1 ± 2.1; 3.0 (0.0-14.0) | 2.2 ± 1.8; 2.0 (0.0-9.0) | <0.001 | 2.4 ± 1.9; 2.0 (0.0-9.0) | <0.001 |
| NGS assessed genes | 46.1 ± 42.3; 32.0 (0.0-129.0) | 50.9 ± 40.2; 35.0 (0.0-130.0) | 46.1 ± 37.4; 35.0 (0.0-130.0) | 0.5 | 43.9 ± 37.9; 34.0 (0.0-130.0) | 0.3 |
| NGS mutated genes | 3.3 ± 2.2; 3.0 (0.0-12.0) | 2.9 ± 1.9; 3.0 (0.0-12.0) | 2.2 ± 1.8; 2.0 (0.0-9.0) | <0.001 | 2.3 ± 1.8; 2.0 (0.0-9.0) | <0.001 |
| Highest VAF | 55.1 ± 19.5; 50.0 (0.0-100.0) | 52.6 ± 19.6; 48.0 (0.0-100.0) | 41.2 ± 21.7; 40.0 (2.1-97.0) | <0.001 | 45.1 ± 20.1; 42.0 (4.0-97.0) | <0.001 |
| VAF cutoffs | <0.001 | 0.3 | ||||
| <2% / no clonality | 35/495 (7.1%) | 47/623 (7.5%) | 42/351 (12%) | 28/238 (12%) | ||
| 2%-10% | 1/495 (0.2%) | 4/623 (0.6%) | 28/351 (8.0%) | 1/238 (0.4%) | ||
| >10% | 459/495 (93%) | 572/623 (92%) | 281/351 (80%) | 209/238 (88%) | ||
| ASXL1 | 260/443 (59%) | 181/582 (31%) | 61/288 (21%) | 0.008 | 40/184 (22%) | 0.082 |
| ASXL2 | 4/229 (1.7%) | 2/312 (0.6%) | 0/154 (0%) | >0.9 | 0/96 (0%) | >0.9 |
| BCOR | 7/275 (2.5%) | 7/360 (1.9%) | 5/195 (2.6%) | 0.8 | 2/126 (1.6%) | >0.9 |
| BRAF | 4/266 (1.5%) | 3/362 (0.8%) | 0/174 (0%) | 0.7 | 0/111 (0%) | >0.9 |
| BRCC3 | 2/214 (0.9%) | 5/295 (1.7%) | 0/159 (0%) | 0.4 | 0/99 (0%) | 0.6 |
| CBL | 105/438 (24%) | 69/574 (12%) | 18/268 (6.7%) | 0.053 | 15/175 (8.6%) | 0.4 |
| CSF3R | 6/356 (1.7%) | 1/492 (0.2%) | 2/227 (0.9%) | 0.4 | 0/144 (0%) | >0.9 |
| CUX1 | 5/168 (3.0%) | 5/231 (2.2%) | 1/111 (0.9%) | 0.8 | 0/68 (0%) | >0.9 |
| DNMT3A | 14/373 (3.8%) | 23/498 (4.6%) | 34/252 (13.5%) | <0.001 | 13/164 (7.9%) | 0.3 |
| ETNK1 | 16/329 (4.9%) | 14/465 (3.0%) | 4/218 (1.8%) | 0.5 | 2/138 (1.4%) | 0.9 |
| ETV6 | 6/278 (2.2%) | 2/367 (0.5%) | 7/247 (2.8%) | 0.086 | 4/157 (2.5%) | 0.2 |
| EZH2 | 45/427 (11%) | 26/568 (4.6%) | 13/285 (4.6%) | >0.9 | 9/183 (4.9%) | >0.9 |
| FLT3-ITD | 12/279 (4.3%) | 0/342 (0%) | 0/198 (0%) | 0/129 (0%) | ||
| IDH1 | 2/381 (0.5%) | 8/508 (1.6%) | 4/261 (1.5%) | >0.9 | 3/169 (1.8%) | >0.9 |
| IDH2 | 13/381 (3.4%) | 21/509 (4.1%) | 7/261 (2.7%) | 0.5 | 6/169 (3.6%) | >0.9 |
| JAK2 | 57/499 (11%) | 23/594 (3.9%) | 12/275 (4.4%) | 0.8 | 12/184 (6.5%) | 0.3 |
| KIT | 22/426 (5.2%) | 29/558 (5.2%) | 3/243 (1.2%) | 0.026 | 2/157 (1.3%) | 0.12 |
| KMT2A-PTD | 5/98 (5.1%) | 5/105 (4.8%) | 1/47 (2.1%) | 0.8 | 1/35 (2.9%) | >0.9 |
| KRAS | 61/439 (14%) | 45/571 (7.9%) | 8/261 (3.1%) | 0.026 | 7/171 (4.1%) | 0.3 |
| MPL | 6/381 (1.6%) | 13/495 (2.6%) | 9/262 (3.4%) | 0.7 | 5/174 (2.9%) | >0.9 |
| NF1 | 25/235 (11%) | 10/316 (3.2%) | 5/171 (2.9%) | >0.9 | 3/109 (2.8%) | >0.9 |
| fish NF1 | 9/551 (1.6%) | 1/654 (0.2%) | 0/356 (0%) | >0.9 | 0/241 (0%) | >0.9 |
| NRAS | 118/454 (26%) | 47/590 (8.0%) | 11/282 (3.9%) | 0.065 | 9/187 (4.8%) | 0.3 |
| PHF6 | 7/291 (2.4%) | 16/393 (4.1%) | 6/227 (2.6%) | 0.5 | 5/142 (3.5%) | >0.9 |
| PPM1D | 1/231 (0.4%) | 2/313 (0.6%) | 4/160 (2.5%) | 0.4 | 0/100 (0%) | >0.9 |
| PTPN11 | 18/280 (6.4%) | 9/381 (2.4%) | 2/227 (0.9%) | 0.4 | 2/146 (1.4%) | >0.9 |
| RUNX1 | 102/449 (23%) | 114/588 (19%) | 30/308 (9.7%) | <0.001 | 24/201 (12%) | 0.082 |
| SETBP1 | 40/378 (11%) | 16/516 (3.1%) | 3/242 (1.2%) | 0.3 | 0/156 (0%) | 0.12 |
| SF3B1 | 18/399 (4.5%) | 50/552 (9.1%) | 99/316 (31%) | <0.001 | 74/212 (35%) | <0.001 |
| SH2B3 | 5/220 (2.3%) | 6/291 (2.1%) | 0/145 (0%) | 0.4 | 0/89 (0%) | 0.6 |
| SRSF2 | 220/434 (51%) | 264/562 (47%) | 59/256 (23%) | <0.001 | 50/166 (30%) | <0.001 |
| STAG2 | 6/231 (2.6%) | 9/311 (2.9%) | 10/217 (4.6%) | 0.5 | 8/139 (5.8%) | 0.4 |
| TET2 | 274/426 (64%) | 388/559 (69%) | 141/264 (53%) | <0.001 | 104/173 (60%) | 0.10 |
| fish TET2 | 9/551 (1.6%) | 17/654 (2.6%) | 3/356 (0.8%) | 0.2 | 2/241 (0.8%) | 0.4 |
| TP53 | 11/345 (3.2%) | 15/488 (3.1%) | 14/284 (4.9%) | 0.4 | 7/185 (3.8%) | >0.9 |
| U2AF1 | 31/384 (8.1%) | 33/524 (6.3%) | 22/267 (8.2%) | 0.5 | 15/173 (8.7%) | 0.5 |
| ZRSR2 | 5/304 (1.6%) | 50/414 (12%) | 36/242 (15%) | 0.5 | 25/155 (16%) | 0.4 |
| . | MP-WHOest n = 549∗ . | MD-WHOest n = 654∗ . | WHOnew n = 356∗ . | q value† MD-WHOest vs WHOnew . | ICCnew n = 241∗ . | q value† MD-WHOest vs ICCnew . |
|---|---|---|---|---|---|---|
| Assessed genes | 49.9 ± 42.0; 35.0 (1.0-131.0) | 54.8 ± 39.7; 40.0 (1.0-135.0) | 47.0 ± 37.2; 36.0 (1.0-132.0) | <0.001 | 44.8 ± 37.6; 34.0 (1.0-132.0) | <0.001 |
| Mutated genes | 3.5 ± 2.3; 4.0 (0.0-12.0) | 3.1 ± 2.1; 3.0 (0.0-14.0) | 2.2 ± 1.8; 2.0 (0.0-9.0) | <0.001 | 2.4 ± 1.9; 2.0 (0.0-9.0) | <0.001 |
| NGS assessed genes | 46.1 ± 42.3; 32.0 (0.0-129.0) | 50.9 ± 40.2; 35.0 (0.0-130.0) | 46.1 ± 37.4; 35.0 (0.0-130.0) | 0.5 | 43.9 ± 37.9; 34.0 (0.0-130.0) | 0.3 |
| NGS mutated genes | 3.3 ± 2.2; 3.0 (0.0-12.0) | 2.9 ± 1.9; 3.0 (0.0-12.0) | 2.2 ± 1.8; 2.0 (0.0-9.0) | <0.001 | 2.3 ± 1.8; 2.0 (0.0-9.0) | <0.001 |
| Highest VAF | 55.1 ± 19.5; 50.0 (0.0-100.0) | 52.6 ± 19.6; 48.0 (0.0-100.0) | 41.2 ± 21.7; 40.0 (2.1-97.0) | <0.001 | 45.1 ± 20.1; 42.0 (4.0-97.0) | <0.001 |
| VAF cutoffs | <0.001 | 0.3 | ||||
| <2% / no clonality | 35/495 (7.1%) | 47/623 (7.5%) | 42/351 (12%) | 28/238 (12%) | ||
| 2%-10% | 1/495 (0.2%) | 4/623 (0.6%) | 28/351 (8.0%) | 1/238 (0.4%) | ||
| >10% | 459/495 (93%) | 572/623 (92%) | 281/351 (80%) | 209/238 (88%) | ||
| ASXL1 | 260/443 (59%) | 181/582 (31%) | 61/288 (21%) | 0.008 | 40/184 (22%) | 0.082 |
| ASXL2 | 4/229 (1.7%) | 2/312 (0.6%) | 0/154 (0%) | >0.9 | 0/96 (0%) | >0.9 |
| BCOR | 7/275 (2.5%) | 7/360 (1.9%) | 5/195 (2.6%) | 0.8 | 2/126 (1.6%) | >0.9 |
| BRAF | 4/266 (1.5%) | 3/362 (0.8%) | 0/174 (0%) | 0.7 | 0/111 (0%) | >0.9 |
| BRCC3 | 2/214 (0.9%) | 5/295 (1.7%) | 0/159 (0%) | 0.4 | 0/99 (0%) | 0.6 |
| CBL | 105/438 (24%) | 69/574 (12%) | 18/268 (6.7%) | 0.053 | 15/175 (8.6%) | 0.4 |
| CSF3R | 6/356 (1.7%) | 1/492 (0.2%) | 2/227 (0.9%) | 0.4 | 0/144 (0%) | >0.9 |
| CUX1 | 5/168 (3.0%) | 5/231 (2.2%) | 1/111 (0.9%) | 0.8 | 0/68 (0%) | >0.9 |
| DNMT3A | 14/373 (3.8%) | 23/498 (4.6%) | 34/252 (13.5%) | <0.001 | 13/164 (7.9%) | 0.3 |
| ETNK1 | 16/329 (4.9%) | 14/465 (3.0%) | 4/218 (1.8%) | 0.5 | 2/138 (1.4%) | 0.9 |
| ETV6 | 6/278 (2.2%) | 2/367 (0.5%) | 7/247 (2.8%) | 0.086 | 4/157 (2.5%) | 0.2 |
| EZH2 | 45/427 (11%) | 26/568 (4.6%) | 13/285 (4.6%) | >0.9 | 9/183 (4.9%) | >0.9 |
| FLT3-ITD | 12/279 (4.3%) | 0/342 (0%) | 0/198 (0%) | 0/129 (0%) | ||
| IDH1 | 2/381 (0.5%) | 8/508 (1.6%) | 4/261 (1.5%) | >0.9 | 3/169 (1.8%) | >0.9 |
| IDH2 | 13/381 (3.4%) | 21/509 (4.1%) | 7/261 (2.7%) | 0.5 | 6/169 (3.6%) | >0.9 |
| JAK2 | 57/499 (11%) | 23/594 (3.9%) | 12/275 (4.4%) | 0.8 | 12/184 (6.5%) | 0.3 |
| KIT | 22/426 (5.2%) | 29/558 (5.2%) | 3/243 (1.2%) | 0.026 | 2/157 (1.3%) | 0.12 |
| KMT2A-PTD | 5/98 (5.1%) | 5/105 (4.8%) | 1/47 (2.1%) | 0.8 | 1/35 (2.9%) | >0.9 |
| KRAS | 61/439 (14%) | 45/571 (7.9%) | 8/261 (3.1%) | 0.026 | 7/171 (4.1%) | 0.3 |
| MPL | 6/381 (1.6%) | 13/495 (2.6%) | 9/262 (3.4%) | 0.7 | 5/174 (2.9%) | >0.9 |
| NF1 | 25/235 (11%) | 10/316 (3.2%) | 5/171 (2.9%) | >0.9 | 3/109 (2.8%) | >0.9 |
| fish NF1 | 9/551 (1.6%) | 1/654 (0.2%) | 0/356 (0%) | >0.9 | 0/241 (0%) | >0.9 |
| NRAS | 118/454 (26%) | 47/590 (8.0%) | 11/282 (3.9%) | 0.065 | 9/187 (4.8%) | 0.3 |
| PHF6 | 7/291 (2.4%) | 16/393 (4.1%) | 6/227 (2.6%) | 0.5 | 5/142 (3.5%) | >0.9 |
| PPM1D | 1/231 (0.4%) | 2/313 (0.6%) | 4/160 (2.5%) | 0.4 | 0/100 (0%) | >0.9 |
| PTPN11 | 18/280 (6.4%) | 9/381 (2.4%) | 2/227 (0.9%) | 0.4 | 2/146 (1.4%) | >0.9 |
| RUNX1 | 102/449 (23%) | 114/588 (19%) | 30/308 (9.7%) | <0.001 | 24/201 (12%) | 0.082 |
| SETBP1 | 40/378 (11%) | 16/516 (3.1%) | 3/242 (1.2%) | 0.3 | 0/156 (0%) | 0.12 |
| SF3B1 | 18/399 (4.5%) | 50/552 (9.1%) | 99/316 (31%) | <0.001 | 74/212 (35%) | <0.001 |
| SH2B3 | 5/220 (2.3%) | 6/291 (2.1%) | 0/145 (0%) | 0.4 | 0/89 (0%) | 0.6 |
| SRSF2 | 220/434 (51%) | 264/562 (47%) | 59/256 (23%) | <0.001 | 50/166 (30%) | <0.001 |
| STAG2 | 6/231 (2.6%) | 9/311 (2.9%) | 10/217 (4.6%) | 0.5 | 8/139 (5.8%) | 0.4 |
| TET2 | 274/426 (64%) | 388/559 (69%) | 141/264 (53%) | <0.001 | 104/173 (60%) | 0.10 |
| fish TET2 | 9/551 (1.6%) | 17/654 (2.6%) | 3/356 (0.8%) | 0.2 | 2/241 (0.8%) | 0.4 |
| TP53 | 11/345 (3.2%) | 15/488 (3.1%) | 14/284 (4.9%) | 0.4 | 7/185 (3.8%) | >0.9 |
| U2AF1 | 31/384 (8.1%) | 33/524 (6.3%) | 22/267 (8.2%) | 0.5 | 15/173 (8.7%) | 0.5 |
| ZRSR2 | 5/304 (1.6%) | 50/414 (12%) | 36/242 (15%) | 0.5 | 25/155 (16%) | 0.4 |