Clinical features and mutation characteristics in the 14 patients with AML1 gene mutation
| Patient . | Age (y)/Sex . | Diagnosis . | Karyotype . | Mutations of the first AML1 allele . | Status of the Other AML1 allele(s) . |
|---|---|---|---|---|---|
| 1 | 42/M | MoAML | 45, XY, −7, del 17p | C114 ins (22 bp) | F131 del (14 bp) |
| 2 | 32/F | MoAML | ND | S140 ins (6 bp) | Splice site exon 4/intron 4 ins (14 bp) |
| 3 | 60/F | MoAML | 46, XX | G138D (GGT → GAT) | Deletion |
| 4 | 37/M | MoAML | 46, XY | R135G (AGG → GGG) | Deletion |
| 5 | 60/F | MoAML | 46, XX | D171G (GAT → GGT) | Deletion |
| 6 | 87/M | MoAML | 46, XY | R139ter (CGA → TGA) | Deletion |
| 7 | 39/M | MoAML | 79, XXYY, −2, −3, −4, −6, −7, −9, −10, −11, −15, −15, −16, −17, −18, −21 | R139ter (CGA → TGA) | Uncertain |
| 8 | 52/M | MoAML | 46, XY | Splice site intron 3/exon 4 | Deletion |
| 9 | 74/M | MoAML | ND | R135 ins | R174 G (CGA → CAA) |
| 10 | 72/M | M1 AML post atypical CML | 48, XY, + 21 + 21 | D171 G (GAT → GGT) | At least 3 AML 1 alleles with the same mutation |
| 11 | 81/M | M2AML | 51, XY, +8, +9, +19, +21, +22 | R177Q (CGA → CAA) | One WT allele |
| 12 | 65/M | ET, | 47, XY, +21 | R174Q (CGA → CAA) | One WT allele |
| progression to MoAML | 46, XY, del(11)(q23), −18, +mar/45, XY, add(12)(q23), −18 | R174Q (CGA → CAA) | Deletion of the WT allele | ||
| 13 | 55/M | aCML | 47, XY+21 | R174 ter | One WT allele |
| 14 | 34/M | M2 AML | 46, XY−7+21 | E111 ins (76 bp) | One WT allele |
| Patient . | Age (y)/Sex . | Diagnosis . | Karyotype . | Mutations of the first AML1 allele . | Status of the Other AML1 allele(s) . |
|---|---|---|---|---|---|
| 1 | 42/M | MoAML | 45, XY, −7, del 17p | C114 ins (22 bp) | F131 del (14 bp) |
| 2 | 32/F | MoAML | ND | S140 ins (6 bp) | Splice site exon 4/intron 4 ins (14 bp) |
| 3 | 60/F | MoAML | 46, XX | G138D (GGT → GAT) | Deletion |
| 4 | 37/M | MoAML | 46, XY | R135G (AGG → GGG) | Deletion |
| 5 | 60/F | MoAML | 46, XX | D171G (GAT → GGT) | Deletion |
| 6 | 87/M | MoAML | 46, XY | R139ter (CGA → TGA) | Deletion |
| 7 | 39/M | MoAML | 79, XXYY, −2, −3, −4, −6, −7, −9, −10, −11, −15, −15, −16, −17, −18, −21 | R139ter (CGA → TGA) | Uncertain |
| 8 | 52/M | MoAML | 46, XY | Splice site intron 3/exon 4 | Deletion |
| 9 | 74/M | MoAML | ND | R135 ins | R174 G (CGA → CAA) |
| 10 | 72/M | M1 AML post atypical CML | 48, XY, + 21 + 21 | D171 G (GAT → GGT) | At least 3 AML 1 alleles with the same mutation |
| 11 | 81/M | M2AML | 51, XY, +8, +9, +19, +21, +22 | R177Q (CGA → CAA) | One WT allele |
| 12 | 65/M | ET, | 47, XY, +21 | R174Q (CGA → CAA) | One WT allele |
| progression to MoAML | 46, XY, del(11)(q23), −18, +mar/45, XY, add(12)(q23), −18 | R174Q (CGA → CAA) | Deletion of the WT allele | ||
| 13 | 55/M | aCML | 47, XY+21 | R174 ter | One WT allele |
| 14 | 34/M | M2 AML | 46, XY−7+21 | E111 ins (76 bp) | One WT allele |
AML indicates acute myeloid leukemia; MoAML, AML of the Mo type; CML, chronic myeloid leukemia; ET, essential thrombocythemia; WT, wild type.