Clinical features and mutation characteristics of the patients with AML1 mutations
. | . | . | . | . | AML1 mutation . | . | . | ||
|---|---|---|---|---|---|---|---|---|---|
| Case no. . | Age, y/sex . | Category and diagnosis . | History* . | Chromosome . | Genome . | cDNA . | Protein . | ||
| 1 | 66/F | Secondary MDS, RA | A-bomb (2.5 km) | 46, XX | 471G>T | 471G>T | Pro157syn | ||
| 2 | 81/F | Secondary MDS, RAEBt | A-bomb (2.0 km) | 45, XX, –5 | 303T>C | 303T>C | Thr101syn | ||
| 3 | 69/M | Secondary MDS, RAEBt | A-bomb (2.7 km) | 46, XY, del(12)(p12), der(14)t(1;14)(p10;p10) | 124G>C | 124G>C | Gly42Arg | ||
| 4 | 59/F | Secondary MDS, RAEBt | A-bomb (1.7 km) | 46, XX, del(3)(p14) | 211delC† | 211delC† | Leu71fsTer94† | ||
| 5 | 68/M | Secondary MDS, RAEBt | A-bomb (0.8 km) | 47, XY, t(3:5)(q27;p13), +4, +5, –7 | 511G>A | 511G>A | Asp171Asn | ||
| 6 | 80/F | Secondary MDS, AML following MDS | A-bomb (2.5 km) | 47, XX, +8, t(9;11)(q22;q23) | 124G>C | 124G>C | Gly42Arg | ||
| 7 | 80/M | Secondary MDS, RAEBt | Manufacturing mustard gas | 46, XY | 316_338dup | 316_338dup | Tyr113Ter | ||
| 8 | 43/F | Secondary MDS, RAEBt | AML(M3)>CCR>RAEBt | 45, XX, –7 | 511G>A | 511G>A | Asp171Asn | ||
| 9 | 39/F | Secondary MDS, RAEBt | Astrocytoma; Rad/Chem Tx | 46, XX | 530G>A | 530G>A | Arg177Gln | ||
| 10 | 62/M | Secondary AML, M0 | Lymphoma; Rad/Chem Tx | 46, XY | 413_414ins CGGGGG | 413_414ins CGGGGG | Gly138_Arg139 insGlyGly | ||
| 11 | 61/F | Secondary AML, M1 | Myelofibrosis; Rad/Chem Tx | 46, XX | 343_364dup | 343_364dup | Ala122fsTer123 | ||
| 12 | 57/F | Secondary AML, M4 | ET; Chem Tx | 45, XX, –18 | 517C>T | 517C>T | Pro173Ser | ||
| 13 | 64/M | Secondary AML, M1 | Polycythemia vera; Chem Tx | 46, XY | 511G>A | 511G>A | Asp171Asn | ||
| 14 | 29/M | Sporadic AML, M0 | — | 46, XY | 314_342insAGGC | 341_342 insAGGC | Ser114fsTer117 | ||
| 15 | 80/M | Sporadic MDS, RAEB | — | 47, XY, +8 | 261C>A | 261C>A | Ile87syn | ||
| 16 | 74/M | Sporadic MDS, AML following MDS | — | 46, XY | 342G>CCTTCC | 342G>CCTTCC | Ser114fsTer119 | ||
| 17 | 65/M | Sporadic MDS, RAEB | — | 47, XY, +8 | 388delA | 388delA | Arg130fsTer148 | ||
| 18 | 47/F | Sporadic MDS, RAEBt | — | 46, XX | 416_423dup | 416_423dup | Arg142fsTer151 | ||
| 19 | 79/M | Sporadic MDS, RAEBt | — | 46, XY | 422_427 + 3dup | 427_428ins GTAGAAGAG | Gly143_Lys144 insArgArgGly | ||
| 20 | 64/F | Sporadic MDS, RAEB | — | 46, XX | 497T>C | 497T>C | Ile166Thr | ||
| 21 | 75/M | Sporadic MDS, RAEBt | — | 45, XY, add(3)(q?13.2), –7 | 512A>G | 512A>G | Asp171Gly | ||
| 22 | 41/M | Secondary MDS, RAEB | AML(M5b)>CCR>RAEB | 46, XY, add(6)(p21.3), del(20)(q11.2q13.3) | 253_254insCCC | 253_254 insCCC | Thr84_Leu85insPro | ||
| 23 | 62/M | Secondary MDS, RAEBt | Esophageal carcinoma; Rad Tx. | 46, XY, add(17)(p11.2) | 411C>AGGA | 411C>AGGA | Val137_Gly138 insGly | ||
| 24 | 62/M | Sporadic MDS, AML following MDS | — | 46, XY | 669_670ins ACCGT | 669_670ins ACCGT | Ala224fsTer228 | ||
| 25 | 75/M | Sporadic MDS, RAEBt | — | 46, XY | 695_708del | 695_708del | Phe232fsTer567 | ||
| 26 | 73/M | Sporadic MDS, RAEBt | — | 46, XY | Intron 7a 725-13T>A | 724_725ins ATTCTCTTCAG | Asp242fsTer287 | ||
| 27 | 55/F | Sporadic MDS, AML following MDS | — | 46, XX | 871delT | 871delT | Ser291fsTer300 | ||
| 28 | 75/M | Sporadic MDS, AML following MDS | — | 46, XX | 878G>AGGGCCCA | 878G>AGGGCCCA | Arg292fsTer574 | ||
| 29 | 70/F | Sporadic MDS, RAEBt | — | 46, XY | 876_886 + 3dup | 886_887ins GTATCGACTCTCAA | Thr296fsTer305 | ||
| 30 | 54/M | Sporadic MDS, RAEB | — | 46, XY | Intron 7b 886 + 1_4del | 886_887ins (208 bp) 886_887ins (108 bp) | Thr296fsTer338 Thr296Ser ins(36aa) | ||
| 31 | 64/M | Sporadic MDS, RAEB | — | 47, XY, +1, der(1;7)(q10;p10), +8 | 1091_1095del | 1091_1095del | Ala364fsTer570 | ||
| 32 | 87/F | Secondary MDS, RAEBt | A-bomb (2.0 km) | 46, XX | 1130_1133dup | 1130_1133dup | Leu378fsTer573 | ||
. | . | . | . | . | AML1 mutation . | . | . | ||
|---|---|---|---|---|---|---|---|---|---|
| Case no. . | Age, y/sex . | Category and diagnosis . | History* . | Chromosome . | Genome . | cDNA . | Protein . | ||
| 1 | 66/F | Secondary MDS, RA | A-bomb (2.5 km) | 46, XX | 471G>T | 471G>T | Pro157syn | ||
| 2 | 81/F | Secondary MDS, RAEBt | A-bomb (2.0 km) | 45, XX, –5 | 303T>C | 303T>C | Thr101syn | ||
| 3 | 69/M | Secondary MDS, RAEBt | A-bomb (2.7 km) | 46, XY, del(12)(p12), der(14)t(1;14)(p10;p10) | 124G>C | 124G>C | Gly42Arg | ||
| 4 | 59/F | Secondary MDS, RAEBt | A-bomb (1.7 km) | 46, XX, del(3)(p14) | 211delC† | 211delC† | Leu71fsTer94† | ||
| 5 | 68/M | Secondary MDS, RAEBt | A-bomb (0.8 km) | 47, XY, t(3:5)(q27;p13), +4, +5, –7 | 511G>A | 511G>A | Asp171Asn | ||
| 6 | 80/F | Secondary MDS, AML following MDS | A-bomb (2.5 km) | 47, XX, +8, t(9;11)(q22;q23) | 124G>C | 124G>C | Gly42Arg | ||
| 7 | 80/M | Secondary MDS, RAEBt | Manufacturing mustard gas | 46, XY | 316_338dup | 316_338dup | Tyr113Ter | ||
| 8 | 43/F | Secondary MDS, RAEBt | AML(M3)>CCR>RAEBt | 45, XX, –7 | 511G>A | 511G>A | Asp171Asn | ||
| 9 | 39/F | Secondary MDS, RAEBt | Astrocytoma; Rad/Chem Tx | 46, XX | 530G>A | 530G>A | Arg177Gln | ||
| 10 | 62/M | Secondary AML, M0 | Lymphoma; Rad/Chem Tx | 46, XY | 413_414ins CGGGGG | 413_414ins CGGGGG | Gly138_Arg139 insGlyGly | ||
| 11 | 61/F | Secondary AML, M1 | Myelofibrosis; Rad/Chem Tx | 46, XX | 343_364dup | 343_364dup | Ala122fsTer123 | ||
| 12 | 57/F | Secondary AML, M4 | ET; Chem Tx | 45, XX, –18 | 517C>T | 517C>T | Pro173Ser | ||
| 13 | 64/M | Secondary AML, M1 | Polycythemia vera; Chem Tx | 46, XY | 511G>A | 511G>A | Asp171Asn | ||
| 14 | 29/M | Sporadic AML, M0 | — | 46, XY | 314_342insAGGC | 341_342 insAGGC | Ser114fsTer117 | ||
| 15 | 80/M | Sporadic MDS, RAEB | — | 47, XY, +8 | 261C>A | 261C>A | Ile87syn | ||
| 16 | 74/M | Sporadic MDS, AML following MDS | — | 46, XY | 342G>CCTTCC | 342G>CCTTCC | Ser114fsTer119 | ||
| 17 | 65/M | Sporadic MDS, RAEB | — | 47, XY, +8 | 388delA | 388delA | Arg130fsTer148 | ||
| 18 | 47/F | Sporadic MDS, RAEBt | — | 46, XX | 416_423dup | 416_423dup | Arg142fsTer151 | ||
| 19 | 79/M | Sporadic MDS, RAEBt | — | 46, XY | 422_427 + 3dup | 427_428ins GTAGAAGAG | Gly143_Lys144 insArgArgGly | ||
| 20 | 64/F | Sporadic MDS, RAEB | — | 46, XX | 497T>C | 497T>C | Ile166Thr | ||
| 21 | 75/M | Sporadic MDS, RAEBt | — | 45, XY, add(3)(q?13.2), –7 | 512A>G | 512A>G | Asp171Gly | ||
| 22 | 41/M | Secondary MDS, RAEB | AML(M5b)>CCR>RAEB | 46, XY, add(6)(p21.3), del(20)(q11.2q13.3) | 253_254insCCC | 253_254 insCCC | Thr84_Leu85insPro | ||
| 23 | 62/M | Secondary MDS, RAEBt | Esophageal carcinoma; Rad Tx. | 46, XY, add(17)(p11.2) | 411C>AGGA | 411C>AGGA | Val137_Gly138 insGly | ||
| 24 | 62/M | Sporadic MDS, AML following MDS | — | 46, XY | 669_670ins ACCGT | 669_670ins ACCGT | Ala224fsTer228 | ||
| 25 | 75/M | Sporadic MDS, RAEBt | — | 46, XY | 695_708del | 695_708del | Phe232fsTer567 | ||
| 26 | 73/M | Sporadic MDS, RAEBt | — | 46, XY | Intron 7a 725-13T>A | 724_725ins ATTCTCTTCAG | Asp242fsTer287 | ||
| 27 | 55/F | Sporadic MDS, AML following MDS | — | 46, XX | 871delT | 871delT | Ser291fsTer300 | ||
| 28 | 75/M | Sporadic MDS, AML following MDS | — | 46, XX | 878G>AGGGCCCA | 878G>AGGGCCCA | Arg292fsTer574 | ||
| 29 | 70/F | Sporadic MDS, RAEBt | — | 46, XY | 876_886 + 3dup | 886_887ins GTATCGACTCTCAA | Thr296fsTer305 | ||
| 30 | 54/M | Sporadic MDS, RAEB | — | 46, XY | Intron 7b 886 + 1_4del | 886_887ins (208 bp) 886_887ins (108 bp) | Thr296fsTer338 Thr296Ser ins(36aa) | ||
| 31 | 64/M | Sporadic MDS, RAEB | — | 47, XY, +1, der(1;7)(q10;p10), +8 | 1091_1095del | 1091_1095del | Ala364fsTer570 | ||
| 32 | 87/F | Secondary MDS, RAEBt | A-bomb (2.0 km) | 46, XX | 1130_1133dup | 1130_1133dup | Leu378fsTer573 | ||
Cases 1 through 13 were reported previously.7 CCR indicates continuous complete remission; Rad Tx, radiation therapy; Chem Tx, chemotherapy; ET, essential thrombocythemia; and —, no history that belongs to the “secondary” categories described in “Patients, materials, and methods.”
Distances in parentheses indicate how far from the center of the explosion the patient was
The previous description (208delC; Ser70fsTer93)7 was incorrect