Main clinical and biological features of CML-AP/BC patients with RUNX1 mutations
| UPN . | Sex/age, y . | RUNX1 mutations . | CP . | AP/BC . | |||
|---|---|---|---|---|---|---|---|
| bp change . | aa change . | Karyotype . | BCR-ABL subtype . | Karyotype . | BM examinations: myeloblasts + promyelocytes . | ||
| 1 | F/57 | 211 del C | L71fs-ter94 | NA | b2a2 | 46, XX, t(2;12), t(9;22)(q34;q11) [6]/46, XX, t(9;22)(q34;q11) [3]/[10] | 24% |
| 2 | M/42 | 234 C > A | H78Q | 46, XY, t(9;22)(q34;q11) | b2a2 | 51–55, XY, 2t(9;22)(q34;q11) [cp11] | 69% |
| 3 | F/18 | 237 G > C | W79C | NA | b2a2 | 46, XX, t(9;22)(q34;q11) [6]/[10] | 20% |
| 4 | M/28 | 415 C > G | R139G | 46, XY, t(9;22)(q34;q11) | b2a2 | 46, XY, t(9;22)(q34;q11) [3]/45, XY, -11, t(9;22)(q34;q11) [4]/[10] | 91% |
| 5 | M/23 | 512 A > G | D171G | NA | b3a2 | 46, XY, t(9;22)(q34;q11) [6]/[10] | 64% |
| 6 | M/54 | 521 G > A | R174Q | NA | b2a2 | 46, XY, t(9;22)(q34;q11) [2]/[5] | 52% |
| 7 | F/39 | 521 G > A | R174Q | NA | b2a2 | NA | 72% |
| 8 | M/64 | 877 C > T | R293X | 46, XY, t(9;22)(q34;q11) | b3a2 | 46, XY, t(9;22)(q34;q11) [3]/[4] | 92% |
| 9 | M/45 | 775-778dupCAAT | Y260fs-ter573 | 46, XY, t(9;22)(q34;q11) | b3a2 | 46, XY, -5, +8, t(9;22)(q34;q11) [2]/46, XY, t(9;22)(q34;q11)[1]/[4] | 34% |
| 10 | M/43 | 271 del G | V91fs-ter94 | 46, XY, t(9;22)(q34;q11) | b3a2 | NA | 76% |
| 11 | M/41 | 1140-1144 del CGGCG | G381fs-ter570 | 46, XY, t(9;22)(q34;q11) | b3a2 | 46, XY, t(9;22)(q34;q11) [6]/[10] | 38% |
| UPN . | Sex/age, y . | RUNX1 mutations . | CP . | AP/BC . | |||
|---|---|---|---|---|---|---|---|
| bp change . | aa change . | Karyotype . | BCR-ABL subtype . | Karyotype . | BM examinations: myeloblasts + promyelocytes . | ||
| 1 | F/57 | 211 del C | L71fs-ter94 | NA | b2a2 | 46, XX, t(2;12), t(9;22)(q34;q11) [6]/46, XX, t(9;22)(q34;q11) [3]/[10] | 24% |
| 2 | M/42 | 234 C > A | H78Q | 46, XY, t(9;22)(q34;q11) | b2a2 | 51–55, XY, 2t(9;22)(q34;q11) [cp11] | 69% |
| 3 | F/18 | 237 G > C | W79C | NA | b2a2 | 46, XX, t(9;22)(q34;q11) [6]/[10] | 20% |
| 4 | M/28 | 415 C > G | R139G | 46, XY, t(9;22)(q34;q11) | b2a2 | 46, XY, t(9;22)(q34;q11) [3]/45, XY, -11, t(9;22)(q34;q11) [4]/[10] | 91% |
| 5 | M/23 | 512 A > G | D171G | NA | b3a2 | 46, XY, t(9;22)(q34;q11) [6]/[10] | 64% |
| 6 | M/54 | 521 G > A | R174Q | NA | b2a2 | 46, XY, t(9;22)(q34;q11) [2]/[5] | 52% |
| 7 | F/39 | 521 G > A | R174Q | NA | b2a2 | NA | 72% |
| 8 | M/64 | 877 C > T | R293X | 46, XY, t(9;22)(q34;q11) | b3a2 | 46, XY, t(9;22)(q34;q11) [3]/[4] | 92% |
| 9 | M/45 | 775-778dupCAAT | Y260fs-ter573 | 46, XY, t(9;22)(q34;q11) | b3a2 | 46, XY, -5, +8, t(9;22)(q34;q11) [2]/46, XY, t(9;22)(q34;q11)[1]/[4] | 34% |
| 10 | M/43 | 271 del G | V91fs-ter94 | 46, XY, t(9;22)(q34;q11) | b3a2 | NA | 76% |
| 11 | M/41 | 1140-1144 del CGGCG | G381fs-ter570 | 46, XY, t(9;22)(q34;q11) | b3a2 | 46, XY, t(9;22)(q34;q11) [6]/[10] | 38% |
NA indicates not available; del, deletion; b2a2, exon13 of BCR fused with exon2 of ABL; b3a2, exon14 of BCR fused with exon2 of ABL; and cp, composite karyotype.