Summary of the patients with PU.1 mutations
| Patient . | Subtypes . | Karyotypes . | bp . | aa . | Mut alleles (%) . |
|---|---|---|---|---|---|
| #57 | M0 | 46,XX,20q− | 618delC | P136fsX179 | 11/27 (41) |
| #104 | M0 | 46,XY | G524-1003del | V105-H264del | 8/12 (67) |
| #54 | M0 | NA | G335-1003del | D42-H264del | 3-151 |
| #683-150,3-152 | M1 | 46,XY | 833-834delGG | G208fsX | 8/22 (36) |
| #383-150 | M4 | 46,XY (11/20) | 659G>A | G150R | 7/14 (50) |
| 47,XY,− 7,+ 8,+ 8 (5/20) | |||||
| 47,XY,+ 5,− 7,+ 8 (4/20) | |||||
| #703-150 | M4 | 46,XY | 968delC | 253fsX | 4/7 (57) |
| 971G>A | G254R | 3/7 (43) | |||
| #109 | M4 | 46,XX | 841G>C | Q210H | 3/9 (33) |
| #63 | M5b | NA | 659G>A | G150R | 5/7 (71) |
| #115 | M6 | 46,XX | 222T>C | F4S | 3/8 (38) |
| Patient . | Subtypes . | Karyotypes . | bp . | aa . | Mut alleles (%) . |
|---|---|---|---|---|---|
| #57 | M0 | 46,XX,20q− | 618delC | P136fsX179 | 11/27 (41) |
| #104 | M0 | 46,XY | G524-1003del | V105-H264del | 8/12 (67) |
| #54 | M0 | NA | G335-1003del | D42-H264del | 3-151 |
| #683-150,3-152 | M1 | 46,XY | 833-834delGG | G208fsX | 8/22 (36) |
| #383-150 | M4 | 46,XY (11/20) | 659G>A | G150R | 7/14 (50) |
| 47,XY,− 7,+ 8,+ 8 (5/20) | |||||
| 47,XY,+ 5,− 7,+ 8 (4/20) | |||||
| #703-150 | M4 | 46,XY | 968delC | 253fsX | 4/7 (57) |
| 971G>A | G254R | 3/7 (43) | |||
| #109 | M4 | 46,XX | 841G>C | Q210H | 3/9 (33) |
| #63 | M5b | NA | 659G>A | G150R | 5/7 (71) |
| #115 | M6 | 46,XX | 222T>C | F4S | 3/8 (38) |
Subtypes are according to the French-American-British (FAB) classification. The location of the mutations is described for the position of the bp or the amino acids (aa) that are mutated. The last column represents the ratio of mutant (mut) sequences among all subcloned PCR products (mut/mut + wt).
NA indicates not available.
AML in these patients evolved from myelodysplastic syndromes (MDS).
In patient #54, only the mutant allele was detected.
Patient #68 was originally classified as M4.