GATA-1 mutations in AKML patients with single samples
Pt . | Sex . | Diagnosis . | Age at diagnosis (mo) . | DNA source . | WBC count, × 109/L (% blast) . | Karyotype . | Sequence in genomic DNA*† . | Cloned sequence from genomic DNA (no. mutant clones/no. total clones)† . | Radiolabeled GATA1 exon 2 PCR products . | Cloned sequence of bands cut from polyacrylamide gels (no. mutant clones/no. total clones)† . | Consequence of mutation† . | Clinical status/time since diagnosis . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L02 | M | AMKL | 30 | Diagnosis BM | 9.3 (25) | 47, XY, +21(c)[10] | 267 ins 10 | Wild type (0/5) | Wild-type band and faint insertion band | 267 ins 10 (4/12) | 267 ins 10 - Stop codon before Met 84 | CCR/27 mo |
| 49, XY, +8, +21, +21(c)[2] | ||||||||||||
| 48, XY, der(1)add (p32)[2] | ||||||||||||
| L03 | M | AMKL | 32 | Diagnosis BM | 41.3 (60) | del(3)(q21q26),i(7)(q10), del(16) (q22q24), +21c[7]/47, 21c[8] | 317 del 13 | ND | Wild-type band and prominent deletion band | 317 del 13 (2/2) | 317 del 13 - Exon 2 splice mutant | CCR/15 mo |
| L07 | M | AMKL | 39 | Diagnosis BM | 6.2 (51) | 48,XY,der(4)t(1;4) (q25q35),del(6) (q15q21),+11, +21c[10] | 324 del 9 | ND | Wild-type band and deletion band 1; faint deletion band 2 | 324 del 9 (2/3); 269 del 23 (3/6) | 324 del 9 - exon 2 splice mutant; 269 del 23 - stop codon before Met 84 | Died of sepsis during treatment |
| 47,XY,+21c[2] | ||||||||||||
| L08 | F | AMKL | 13 | Diagnosis BM | 23.1 (58) | 47,XX,t(4;11;13),+21c[9] | 299 ins 1 | Wild-type (6/8); 299 ins 1 (2/8) | Single wild-type band | ND | 299 ins 1 - stop codon before Met 84 | CCR/124 mo |
| L10 | M | AMKL | 17 | Diagnosis BM | 14.1 (40) | 48,XY,+21,+8[11] | 317 del 13 | ND | Wild-type band and deletion band | 317 del 13 (5/9) | 317 del 13 - exon 2 splice mutant | CCR/55 mo |
| L11 | M | AMKL | 21 | Diagnosis BM | 63.7 (65) | 47,XY,+21(c)[8] | 299 ins 1 | Wild-type (1/4); 299 ins 1 (3/4) | Wild-type band | ND | 299 ins 1 - stop codon before Met 84 | Died of sepsis during treatment |
| T03 | F | TMD | Birth | PB | 200 (10) | 47,XY,+21(c)[10] | 161C>T | ND | Wild-type band | ND | 161 C>T - stop codon before Met 84 | Died at day +4; liver failure secondary to fibrosis |
Pt . | Sex . | Diagnosis . | Age at diagnosis (mo) . | DNA source . | WBC count, × 109/L (% blast) . | Karyotype . | Sequence in genomic DNA*† . | Cloned sequence from genomic DNA (no. mutant clones/no. total clones)† . | Radiolabeled GATA1 exon 2 PCR products . | Cloned sequence of bands cut from polyacrylamide gels (no. mutant clones/no. total clones)† . | Consequence of mutation† . | Clinical status/time since diagnosis . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L02 | M | AMKL | 30 | Diagnosis BM | 9.3 (25) | 47, XY, +21(c)[10] | 267 ins 10 | Wild type (0/5) | Wild-type band and faint insertion band | 267 ins 10 (4/12) | 267 ins 10 - Stop codon before Met 84 | CCR/27 mo |
| 49, XY, +8, +21, +21(c)[2] | ||||||||||||
| 48, XY, der(1)add (p32)[2] | ||||||||||||
| L03 | M | AMKL | 32 | Diagnosis BM | 41.3 (60) | del(3)(q21q26),i(7)(q10), del(16) (q22q24), +21c[7]/47, 21c[8] | 317 del 13 | ND | Wild-type band and prominent deletion band | 317 del 13 (2/2) | 317 del 13 - Exon 2 splice mutant | CCR/15 mo |
| L07 | M | AMKL | 39 | Diagnosis BM | 6.2 (51) | 48,XY,der(4)t(1;4) (q25q35),del(6) (q15q21),+11, +21c[10] | 324 del 9 | ND | Wild-type band and deletion band 1; faint deletion band 2 | 324 del 9 (2/3); 269 del 23 (3/6) | 324 del 9 - exon 2 splice mutant; 269 del 23 - stop codon before Met 84 | Died of sepsis during treatment |
| 47,XY,+21c[2] | ||||||||||||
| L08 | F | AMKL | 13 | Diagnosis BM | 23.1 (58) | 47,XX,t(4;11;13),+21c[9] | 299 ins 1 | Wild-type (6/8); 299 ins 1 (2/8) | Single wild-type band | ND | 299 ins 1 - stop codon before Met 84 | CCR/124 mo |
| L10 | M | AMKL | 17 | Diagnosis BM | 14.1 (40) | 48,XY,+21,+8[11] | 317 del 13 | ND | Wild-type band and deletion band | 317 del 13 (5/9) | 317 del 13 - exon 2 splice mutant | CCR/55 mo |
| L11 | M | AMKL | 21 | Diagnosis BM | 63.7 (65) | 47,XY,+21(c)[8] | 299 ins 1 | Wild-type (1/4); 299 ins 1 (3/4) | Wild-type band | ND | 299 ins 1 - stop codon before Met 84 | Died of sepsis during treatment |
| T03 | F | TMD | Birth | PB | 200 (10) | 47,XY,+21(c)[10] | 161C>T | ND | Wild-type band | ND | 161 C>T - stop codon before Met 84 | Died at day +4; liver failure secondary to fibrosis |
PB indicates peripheral blood sample; BM, bone marrow; CCR, complete continuous remission; and ND, not done.
Sequence obtained from direct sequencing of genomic DNA