Significant associations between morphologic features and somatic mutations
Clinical events . | Mutated genes . | OR . | 95% CI . | P . | q . | Cooccurrence . | Clinical only . | Mutation only . | Intact . | |
---|---|---|---|---|---|---|---|---|---|---|
Lower . | Upper . | |||||||||
MDS (vs MDS/MPN) | SRSF2 | 0.20 | 0.14 | 0.30 | 5.57E-15 | 5.85E-13 | 55 | 774 | 65 | 185 |
Thrombocytopenia | SF3B1 | 0.25 | 0.17 | 0.36 | 1.96E-13 | 1.85E-11 | 42 | 601 | 96 | 340 |
MDS (vs MDS/MPN) | TET2 | 0.32 | 0.23 | 0.44 | 1.31E-11 | 1.03E-09 | 123 | 706 | 88 | 162 |
Monocytosis | SRSF2 | 3.89 | 2.60 | 5.81 | 2.23E-10 | 1.41E-08 | 51 | 153 | 69 | 806 |
Monocytosis | NRAS | 6.74 | 3.77 | 12.23 | 3.11E-10 | 1.84E-08 | 29 | 175 | 21 | 854 |
MDS (vs MDS/MPN) | KRAS | 0.07 | 0.02 | 0.19 | 6.64E-09 | 3.31E-07 | 5 | 824 | 19 | 231 |
Monocytosis | TET2 | 2.72 | 1.93 | 3.82 | 2.41E-08 | 1.09E-06 | 70 | 134 | 141 | 734 |
Monocytosis | RUNX1 | 3.43 | 2.25 | 5.20 | 4.07E-08 | 1.68E-06 | 44 | 160 | 65 | 810 |
High risk (vs low risk) | SF3B1 | 0.36 | 0.24 | 0.54 | 5.02E-07 | 1.64E-05 | 32 | 427 | 106 | 514 |
Monocytosis | KRAS | 7.64 | 3.35 | 18.43 | 2.33E-06 | 6.88E-05 | 15 | 189 | 9 | 866 |
MDS (vs MDS/MPN) | NRAS | 0.26 | 0.14 | 0.46 | 6.52E-06 | 0.000176 | 24 | 805 | 26 | 224 |
Monocytosis | CBL | 4.11 | 2.25 | 7.45 | 7.49E-06 | 0.000197 | 22 | 182 | 25 | 850 |
MDS (vs MDS/MPN) | CBL | 0.25 | 0.13 | 0.44 | 7.72E-06 | 0.000198 | 22 | 807 | 25 | 225 |
Monocytosis | ASXL1 | 2.31 | 1.60 | 3.31 | 1.44E-05 | 0.000336 | 56 | 148 | 123 | 752 |
MDS (vs MDS/MPN) | RUNX1 | 0.40 | 0.26 | 0.60 | 2.18E-05 | 0.000492 | 65 | 764 | 44 | 206 |
Elevated MgK | RUNX1 | 0.33 | 0.18 | 0.56 | 2.56E-05 | 0.000564 | 15 | 316 | 94 | 654 |
High risk (vs low risk) | STAG2 | 2.84 | 1.75 | 4.75 | 2.64E-05 | 0.000568 | 49 | 410 | 25 | 595 |
Erythroid dysplasia | SF3B1 | 2.53 | 1.60 | 4.17 | 4.41E-05 | 0.000888 | 116 | 636 | 22 | 305 |
Thrombocytopenia | BCORL1 | 0.22 | 0.09 | 0.47 | 7.27E-05 | 0.001323 | 8 | 635 | 24 | 412 |
Neutropenia | SF3B1 | 0.47 | 0.32 | 0.68 | 7.91E-05 | 0.001412 | 42 | 454 | 96 | 487 |
Myeloid dysplasia | STAG2 | 2.81 | 1.66 | 4.98 | 9.41E-05 | 0.00159 | 56 | 528 | 18 | 477 |
Neutropenia | IDH1 | 4.37 | 1.97 | 11.03 | 0.000223 | 0.003351 | 25 | 471 | 7 | 576 |
High risk (vs low risk) | TET2 | 0.55 | 0.40 | 0.75 | 0.000252 | 0.003722 | 66 | 393 | 145 | 475 |
High risk (vs low risk) | TP53 | 2.22 | 1.45 | 3.42 | 0.000317 | 0.004611 | 58 | 401 | 38 | 582 |
Myeloid dysplasia | SRSF2 | 2.05 | 1.37 | 3.11 | 0.000445 | 0.006184 | 83 | 501 | 37 | 458 |
Neutropenia | SRSF2 | 0.49 | 0.32 | 0.72 | 0.000438 | 0.006184 | 37 | 459 | 83 | 500 |
Thrombocytopenia | TP53 | 2.30 | 1.44 | 3.81 | 0.000467 | 0.006396 | 73 | 570 | 23 | 413 |
Erythroid dysplasia | EZH2 | 0.42 | 0.26 | 0.70 | 0.000865 | 0.010233 | 34 | 718 | 33 | 294 |
MDS (vs MDS/MPN) | ASXL1 | 0.55 | 0.39 | 0.78 | 0.000955 | 0.011153 | 120 | 709 | 59 | 191 |
Myelofibrosis | JAK2 | 2.97 | 1.55 | 5.54 | 0.001163 | 0.013097 | 17 | 187 | 26 | 849 |
Myeloid dysplasia | SF3B1 | 0.55 | 0.38 | 0.79 | 0.00134 | 0.014735 | 57 | 527 | 81 | 414 |
Neutropenia | CBL | 0.34 | 0.17 | 0.66 | 0.001486 | 0.016163 | 11 | 485 | 36 | 547 |
Elevated MgK | STAG2 | 0.37 | 0.18 | 0.69 | 0.001623 | 0.017445 | 11 | 320 | 63 | 685 |
MgK dysplasia | ASXL1 | 1.86 | 1.26 | 2.81 | 0.001983 | 0.02084 | 145 | 627 | 34 | 273 |
Myelofibrosis | BCORL1 | 0.06 | Infinity | 0.49 | 0.002015 | 0.020943 | 0 | 204 | 32 | 843 |
Elevated MgK | NRAS | 0.30 | 0.11 | 0.65 | 0.002546 | 0.024574 | 6 | 325 | 44 | 704 |
MDS (vs MDS/MPN) | JAK2 | 0.36 | 0.20 | 0.68 | 0.002488 | 0.024574 | 24 | 805 | 19 | 231 |
Myeloid dysplasia | TET2 | 1.62 | 1.19 | 2.21 | 0.002619 | 0.025022 | 134 | 450 | 77 | 418 |
High risk (vs low risk) | KRAS | 0.19 | 0.04 | 0.55 | 0.002666 | 0.025219 | 3 | 456 | 21 | 599 |
Elevated MgK | SF3B1 | 1.77 | 1.23 | 2.55 | 0.002897 | 0.02687 | 58 | 273 | 80 | 668 |
Myelofibrosis | BCOR | 0.26 | 0.08 | 0.63 | 0.003344 | 0.029642 | 4 | 200 | 63 | 812 |
MDS (vs MDS/MPN) | TP53 | 2.48 | 1.36 | 5.00 | 0.003384 | 0.029642 | 85 | 744 | 11 | 239 |
Neutropenia | TET2 | 0.63 | 0.46 | 0.86 | 0.003448 | 0.029922 | 78 | 418 | 133 | 450 |
Neutropenia | NRAS | 0.40 | 0.20 | 0.74 | 0.003555 | 0.030576 | 13 | 483 | 37 | 546 |
Thrombocytopenia | JAK2 | 0.39 | 0.20 | 0.72 | 0.003784 | 0.031771 | 16 | 627 | 27 | 409 |
Neutropenia | ASXL1 | 0.62 | 0.44 | 0.86 | 0.00516 | 0.042569 | 65 | 431 | 114 | 469 |
MDS (vs MDS/MPN) | EZH2 | 0.48 | 0.29 | 0.81 | 0.006814 | 0.05327 | 42 | 787 | 25 | 225 |
Anemia | ETV6 | 2.94 | 1.37 | 7.30 | 0.007257 | 0.055363 | 33 | 640 | 7 | 399 |
Anemia | TET2 | 0.67 | 0.49 | 0.90 | 0.009031 | 0.067803 | 115 | 558 | 96 | 310 |
Myeloid dysplasia | TP53 | 1.78 | 1.15 | 2.80 | 0.010013 | 0.073428 | 64 | 520 | 32 | 463 |
Erythroid dysplasia | SRSF2 | 0.59 | 0.40 | 0.88 | 0.011132 | 0.079778 | 71 | 681 | 49 | 278 |
Erythroid dysplasia | KRAS | 0.36 | 0.16 | 0.81 | 0.01355 | 0.094253 | 11 | 741 | 13 | 314 |
Clinical events . | Mutated genes . | OR . | 95% CI . | P . | q . | Cooccurrence . | Clinical only . | Mutation only . | Intact . | |
---|---|---|---|---|---|---|---|---|---|---|
Lower . | Upper . | |||||||||
MDS (vs MDS/MPN) | SRSF2 | 0.20 | 0.14 | 0.30 | 5.57E-15 | 5.85E-13 | 55 | 774 | 65 | 185 |
Thrombocytopenia | SF3B1 | 0.25 | 0.17 | 0.36 | 1.96E-13 | 1.85E-11 | 42 | 601 | 96 | 340 |
MDS (vs MDS/MPN) | TET2 | 0.32 | 0.23 | 0.44 | 1.31E-11 | 1.03E-09 | 123 | 706 | 88 | 162 |
Monocytosis | SRSF2 | 3.89 | 2.60 | 5.81 | 2.23E-10 | 1.41E-08 | 51 | 153 | 69 | 806 |
Monocytosis | NRAS | 6.74 | 3.77 | 12.23 | 3.11E-10 | 1.84E-08 | 29 | 175 | 21 | 854 |
MDS (vs MDS/MPN) | KRAS | 0.07 | 0.02 | 0.19 | 6.64E-09 | 3.31E-07 | 5 | 824 | 19 | 231 |
Monocytosis | TET2 | 2.72 | 1.93 | 3.82 | 2.41E-08 | 1.09E-06 | 70 | 134 | 141 | 734 |
Monocytosis | RUNX1 | 3.43 | 2.25 | 5.20 | 4.07E-08 | 1.68E-06 | 44 | 160 | 65 | 810 |
High risk (vs low risk) | SF3B1 | 0.36 | 0.24 | 0.54 | 5.02E-07 | 1.64E-05 | 32 | 427 | 106 | 514 |
Monocytosis | KRAS | 7.64 | 3.35 | 18.43 | 2.33E-06 | 6.88E-05 | 15 | 189 | 9 | 866 |
MDS (vs MDS/MPN) | NRAS | 0.26 | 0.14 | 0.46 | 6.52E-06 | 0.000176 | 24 | 805 | 26 | 224 |
Monocytosis | CBL | 4.11 | 2.25 | 7.45 | 7.49E-06 | 0.000197 | 22 | 182 | 25 | 850 |
MDS (vs MDS/MPN) | CBL | 0.25 | 0.13 | 0.44 | 7.72E-06 | 0.000198 | 22 | 807 | 25 | 225 |
Monocytosis | ASXL1 | 2.31 | 1.60 | 3.31 | 1.44E-05 | 0.000336 | 56 | 148 | 123 | 752 |
MDS (vs MDS/MPN) | RUNX1 | 0.40 | 0.26 | 0.60 | 2.18E-05 | 0.000492 | 65 | 764 | 44 | 206 |
Elevated MgK | RUNX1 | 0.33 | 0.18 | 0.56 | 2.56E-05 | 0.000564 | 15 | 316 | 94 | 654 |
High risk (vs low risk) | STAG2 | 2.84 | 1.75 | 4.75 | 2.64E-05 | 0.000568 | 49 | 410 | 25 | 595 |
Erythroid dysplasia | SF3B1 | 2.53 | 1.60 | 4.17 | 4.41E-05 | 0.000888 | 116 | 636 | 22 | 305 |
Thrombocytopenia | BCORL1 | 0.22 | 0.09 | 0.47 | 7.27E-05 | 0.001323 | 8 | 635 | 24 | 412 |
Neutropenia | SF3B1 | 0.47 | 0.32 | 0.68 | 7.91E-05 | 0.001412 | 42 | 454 | 96 | 487 |
Myeloid dysplasia | STAG2 | 2.81 | 1.66 | 4.98 | 9.41E-05 | 0.00159 | 56 | 528 | 18 | 477 |
Neutropenia | IDH1 | 4.37 | 1.97 | 11.03 | 0.000223 | 0.003351 | 25 | 471 | 7 | 576 |
High risk (vs low risk) | TET2 | 0.55 | 0.40 | 0.75 | 0.000252 | 0.003722 | 66 | 393 | 145 | 475 |
High risk (vs low risk) | TP53 | 2.22 | 1.45 | 3.42 | 0.000317 | 0.004611 | 58 | 401 | 38 | 582 |
Myeloid dysplasia | SRSF2 | 2.05 | 1.37 | 3.11 | 0.000445 | 0.006184 | 83 | 501 | 37 | 458 |
Neutropenia | SRSF2 | 0.49 | 0.32 | 0.72 | 0.000438 | 0.006184 | 37 | 459 | 83 | 500 |
Thrombocytopenia | TP53 | 2.30 | 1.44 | 3.81 | 0.000467 | 0.006396 | 73 | 570 | 23 | 413 |
Erythroid dysplasia | EZH2 | 0.42 | 0.26 | 0.70 | 0.000865 | 0.010233 | 34 | 718 | 33 | 294 |
MDS (vs MDS/MPN) | ASXL1 | 0.55 | 0.39 | 0.78 | 0.000955 | 0.011153 | 120 | 709 | 59 | 191 |
Myelofibrosis | JAK2 | 2.97 | 1.55 | 5.54 | 0.001163 | 0.013097 | 17 | 187 | 26 | 849 |
Myeloid dysplasia | SF3B1 | 0.55 | 0.38 | 0.79 | 0.00134 | 0.014735 | 57 | 527 | 81 | 414 |
Neutropenia | CBL | 0.34 | 0.17 | 0.66 | 0.001486 | 0.016163 | 11 | 485 | 36 | 547 |
Elevated MgK | STAG2 | 0.37 | 0.18 | 0.69 | 0.001623 | 0.017445 | 11 | 320 | 63 | 685 |
MgK dysplasia | ASXL1 | 1.86 | 1.26 | 2.81 | 0.001983 | 0.02084 | 145 | 627 | 34 | 273 |
Myelofibrosis | BCORL1 | 0.06 | Infinity | 0.49 | 0.002015 | 0.020943 | 0 | 204 | 32 | 843 |
Elevated MgK | NRAS | 0.30 | 0.11 | 0.65 | 0.002546 | 0.024574 | 6 | 325 | 44 | 704 |
MDS (vs MDS/MPN) | JAK2 | 0.36 | 0.20 | 0.68 | 0.002488 | 0.024574 | 24 | 805 | 19 | 231 |
Myeloid dysplasia | TET2 | 1.62 | 1.19 | 2.21 | 0.002619 | 0.025022 | 134 | 450 | 77 | 418 |
High risk (vs low risk) | KRAS | 0.19 | 0.04 | 0.55 | 0.002666 | 0.025219 | 3 | 456 | 21 | 599 |
Elevated MgK | SF3B1 | 1.77 | 1.23 | 2.55 | 0.002897 | 0.02687 | 58 | 273 | 80 | 668 |
Myelofibrosis | BCOR | 0.26 | 0.08 | 0.63 | 0.003344 | 0.029642 | 4 | 200 | 63 | 812 |
MDS (vs MDS/MPN) | TP53 | 2.48 | 1.36 | 5.00 | 0.003384 | 0.029642 | 85 | 744 | 11 | 239 |
Neutropenia | TET2 | 0.63 | 0.46 | 0.86 | 0.003448 | 0.029922 | 78 | 418 | 133 | 450 |
Neutropenia | NRAS | 0.40 | 0.20 | 0.74 | 0.003555 | 0.030576 | 13 | 483 | 37 | 546 |
Thrombocytopenia | JAK2 | 0.39 | 0.20 | 0.72 | 0.003784 | 0.031771 | 16 | 627 | 27 | 409 |
Neutropenia | ASXL1 | 0.62 | 0.44 | 0.86 | 0.00516 | 0.042569 | 65 | 431 | 114 | 469 |
MDS (vs MDS/MPN) | EZH2 | 0.48 | 0.29 | 0.81 | 0.006814 | 0.05327 | 42 | 787 | 25 | 225 |
Anemia | ETV6 | 2.94 | 1.37 | 7.30 | 0.007257 | 0.055363 | 33 | 640 | 7 | 399 |
Anemia | TET2 | 0.67 | 0.49 | 0.90 | 0.009031 | 0.067803 | 115 | 558 | 96 | 310 |
Myeloid dysplasia | TP53 | 1.78 | 1.15 | 2.80 | 0.010013 | 0.073428 | 64 | 520 | 32 | 463 |
Erythroid dysplasia | SRSF2 | 0.59 | 0.40 | 0.88 | 0.011132 | 0.079778 | 71 | 681 | 49 | 278 |
Erythroid dysplasia | KRAS | 0.36 | 0.16 | 0.81 | 0.01355 | 0.094253 | 11 | 741 | 13 | 314 |
CI, confidence interval; MgK, megakaryocyte; OR, odds ratio.