Table 2.

Clinical features and mutation characteristics in the 14 patients with AML1 gene mutation

PatientAge (y)/SexDiagnosisKaryotypeMutations of the first AML1 alleleStatus of the Other AML1 allele(s)
142/MMoAML45, XY, −7, del 17pC114 ins (22 bp)F131 del (14 bp)
232/FMoAMLNDS140 ins (6 bp)Splice site exon 4/intron 4 ins (14 bp)
360/FMoAML46, XXG138D (GGT → GAT)Deletion
437/MMoAML46, XYR135G (AGG → GGG)Deletion
560/FMoAML46, XXD171G (GAT → GGT)Deletion
687/MMoAML46, XYR139ter (CGA → TGA)Deletion
739/MMoAML79, XXYY, −2, −3, −4, −6, −7, −9, −10, −11, −15, −15, −16, −17, −18, −21R139ter (CGA → TGA)Uncertain
852/MMoAML46, XYSplice site intron 3/exon 4Deletion
974/MMoAMLNDR135 insR174 G (CGA → CAA)
1072/MM1 AML post atypical CML48, XY, + 21 + 21D171 G (GAT → GGT)At least 3 AML 1 alleles with the same mutation
1181/MM2AML51, XY, +8, +9, +19, +21, +22R177Q (CGA → CAA)One WT allele
1265/MET,47, XY, +21R174Q (CGA → CAA)One WT allele
progression to MoAML46, XY, del(11)(q23), −18, +mar/45, XY, add(12)(q23), −18R174Q (CGA → CAA)Deletion of the WT allele
1355/MaCML47, XY+21R174 terOne WT allele
1434/MM2 AML46, XY−7+21E111 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.