Characteristics of TET2-mutated patients
| Patient no. . | Age, y . | Initial Dx . | Current Dx . | Cytogenetics . | SNP-A karyotyping . | TET2 mutation . | JAK2V617F . | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gain . | Loss . | UPD . | Exon . | Consequence . | Type . | State . | ||||||
| 1 | 59 | RCMD-RS | RCMD-RS | 45,X,-Y[17]/46,XY[3] | N | N | 4q24-qter | 11 | G1913D | missense | homozygous | negative |
| 2 | 76 | CMML-1 | CMML-1 | 46,XY[20] | N | N | 4q21.21-qter | 7 | insT1310 | frameshift | homozygous | negative |
| 3 | 60 | CMML-1 | CMML-1 | 45,X,-Y[20] | N | N | 4q23-qter, 7q11.23-qter | 7 | E1318G | missense | homozygous | negative |
| 4 | 77 | CMML-1 + CLL | CMML-1 | 46,XY[20] | 16p11.2,21p11.2-q11.2 | N | 4q12-qter | 3 | delG2 | frameshift | homozygous | negative |
| 5 | 69 | CMML-2 | sAML | 46,XY[20] | 22q11.1 | 7q22.1 | 4q21.21-qter, 11q13.4-qter | 3 | S835X | nonsense | homozygous | negative |
| 6 | 78 | CMML-1 | sAML | 46,XY[20] | N | N | 4q13.1-qter, 13q12.11-q12.13 | 4 | R1167T | missense | homozygous | negative |
| 7 | 60 | MDS/MPN | sAML | 47,XY,+8[4]/46,XY[16] | 8 | N | 4q24qter | 10 | delG1439 | frameshift | homozygous | negative |
| 8 | 70 | CMML-2 | sAML | 46,XY[20] | N | 4q21.23-qter | 3 | L1040X | nonsense | homozygous | negative | |
| 9 | 74 | CMML-1 | CMML-1 | 45,X,-Y[20] | N | 4q24 | N | 9 | P1367S | missense | hemizygous | negative |
| 10 | 80 | RCMD-RS | RCMD-RS | 46,XY[20] | N | 4q24; 7p21.3 | N | 3 | S509X | nonsense | hemizygous | negative |
| 11 | 76 | MDS/MPN-U ≥ 5% | MDS/MPN-U ≥ 5% | 46,XY,del(7) (q11.2), del(20)(q11q13), −21,+r[cp20] | N | 7p12.3-p14.1, 7q11.22-qter, 11p15.4-p15.5, 20q11.23-q12, 20q13.12-q13.2 | 22q11.21-qter | 7 | F1287L | missense | heterozygous | negative |
| 12 | 71 | CMML-2 | CMML-2 | 46,XY[20] | N | N | 7q11.21-qter | 7 | K1299N | missense | heterozygous | negative |
| 13 | 58 | CMML-2 | CMML-2 | 46,XX,del(17)(q24)[6]/46,XX[24] | 21q22.13-q22.2 | 2q24.3-q32.1 | 1p36.13-pter | 3 | Q1084P* | missense | heterozygous | negative |
| 14 | 68 | CMML-1 | sAML | 47,XY,+19[20] | 19, 21q22.2 | 3q28-q29 | 1p; 2p22.1-p22.3, 4q28.1-qter, 6p22.1-24.1, 13q12.12-q12.3, 16p12.3-p13.13, 17q22-q23.2 21q21.1 | 3 | A308T | missense | heterozygous | negative |
| 15 | 50 | CMML-1 | sAML | 46,XY[20] | N | N | N | 7 11 | R1302G S1638X | missense nonsense | heterozygous | negative |
| 16 | 45 | CMML-1 | sAML | N/A | 7q21.13 20q11.21-pter, 21p11.2-q21.3, 21q22.13-q22.3 | 3p14.3-pter, 5p12-q12.1, 5q12.3-q14.1, 5q14.3-qter, 12p13.1-p13.31, 12p11.1-p12.1, 16p11.1-q24.3 | 17p12-pter | 3 | Y867H* | missense | heterozygous | negative |
| 17 | 73 | CMML-1 | CMML-1 | 46,XX[20] | N | N | N | 11 | I1873T | missense | heterozygous | negative |
| 18 | 74 | RARS-T | RARS-T | 47,XY,+8[20] | 8 | N | N | 11 | V1718L | missense | heterozygous | negative |
| 19 | 82 | MDS/MPN-U < 5% | MDS/MPN-U < 5% | 46,XY[20] | N | 3p14.2 | 11q13.5-qter | 3 | S631X | nonsense | heterozygous | negative |
| 20 | 78 | MDS/MPN-U < 5% | MDS/MPN-U < 5% | 46,XY[20] | 2p16.1 | 6q16.1 | N | 3 | S817T | missense | heterozygous | negative |
| 21 | 80 | MDS/MPN-U < 5% | MDS/MPN-U < 5% | 47,XY,+8[7]/46,XY[13] | 8 | N | 8q24.21-qter | 3 | P399L | missense | heterozygous | positive |
| Patient no. . | Age, y . | Initial Dx . | Current Dx . | Cytogenetics . | SNP-A karyotyping . | TET2 mutation . | JAK2V617F . | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gain . | Loss . | UPD . | Exon . | Consequence . | Type . | State . | ||||||
| 1 | 59 | RCMD-RS | RCMD-RS | 45,X,-Y[17]/46,XY[3] | N | N | 4q24-qter | 11 | G1913D | missense | homozygous | negative |
| 2 | 76 | CMML-1 | CMML-1 | 46,XY[20] | N | N | 4q21.21-qter | 7 | insT1310 | frameshift | homozygous | negative |
| 3 | 60 | CMML-1 | CMML-1 | 45,X,-Y[20] | N | N | 4q23-qter, 7q11.23-qter | 7 | E1318G | missense | homozygous | negative |
| 4 | 77 | CMML-1 + CLL | CMML-1 | 46,XY[20] | 16p11.2,21p11.2-q11.2 | N | 4q12-qter | 3 | delG2 | frameshift | homozygous | negative |
| 5 | 69 | CMML-2 | sAML | 46,XY[20] | 22q11.1 | 7q22.1 | 4q21.21-qter, 11q13.4-qter | 3 | S835X | nonsense | homozygous | negative |
| 6 | 78 | CMML-1 | sAML | 46,XY[20] | N | N | 4q13.1-qter, 13q12.11-q12.13 | 4 | R1167T | missense | homozygous | negative |
| 7 | 60 | MDS/MPN | sAML | 47,XY,+8[4]/46,XY[16] | 8 | N | 4q24qter | 10 | delG1439 | frameshift | homozygous | negative |
| 8 | 70 | CMML-2 | sAML | 46,XY[20] | N | 4q21.23-qter | 3 | L1040X | nonsense | homozygous | negative | |
| 9 | 74 | CMML-1 | CMML-1 | 45,X,-Y[20] | N | 4q24 | N | 9 | P1367S | missense | hemizygous | negative |
| 10 | 80 | RCMD-RS | RCMD-RS | 46,XY[20] | N | 4q24; 7p21.3 | N | 3 | S509X | nonsense | hemizygous | negative |
| 11 | 76 | MDS/MPN-U ≥ 5% | MDS/MPN-U ≥ 5% | 46,XY,del(7) (q11.2), del(20)(q11q13), −21,+r[cp20] | N | 7p12.3-p14.1, 7q11.22-qter, 11p15.4-p15.5, 20q11.23-q12, 20q13.12-q13.2 | 22q11.21-qter | 7 | F1287L | missense | heterozygous | negative |
| 12 | 71 | CMML-2 | CMML-2 | 46,XY[20] | N | N | 7q11.21-qter | 7 | K1299N | missense | heterozygous | negative |
| 13 | 58 | CMML-2 | CMML-2 | 46,XX,del(17)(q24)[6]/46,XX[24] | 21q22.13-q22.2 | 2q24.3-q32.1 | 1p36.13-pter | 3 | Q1084P* | missense | heterozygous | negative |
| 14 | 68 | CMML-1 | sAML | 47,XY,+19[20] | 19, 21q22.2 | 3q28-q29 | 1p; 2p22.1-p22.3, 4q28.1-qter, 6p22.1-24.1, 13q12.12-q12.3, 16p12.3-p13.13, 17q22-q23.2 21q21.1 | 3 | A308T | missense | heterozygous | negative |
| 15 | 50 | CMML-1 | sAML | 46,XY[20] | N | N | N | 7 11 | R1302G S1638X | missense nonsense | heterozygous | negative |
| 16 | 45 | CMML-1 | sAML | N/A | 7q21.13 20q11.21-pter, 21p11.2-q21.3, 21q22.13-q22.3 | 3p14.3-pter, 5p12-q12.1, 5q12.3-q14.1, 5q14.3-qter, 12p13.1-p13.31, 12p11.1-p12.1, 16p11.1-q24.3 | 17p12-pter | 3 | Y867H* | missense | heterozygous | negative |
| 17 | 73 | CMML-1 | CMML-1 | 46,XX[20] | N | N | N | 11 | I1873T | missense | heterozygous | negative |
| 18 | 74 | RARS-T | RARS-T | 47,XY,+8[20] | 8 | N | N | 11 | V1718L | missense | heterozygous | negative |
| 19 | 82 | MDS/MPN-U < 5% | MDS/MPN-U < 5% | 46,XY[20] | N | 3p14.2 | 11q13.5-qter | 3 | S631X | nonsense | heterozygous | negative |
| 20 | 78 | MDS/MPN-U < 5% | MDS/MPN-U < 5% | 46,XY[20] | 2p16.1 | 6q16.1 | N | 3 | S817T | missense | heterozygous | negative |
| 21 | 80 | MDS/MPN-U < 5% | MDS/MPN-U < 5% | 47,XY,+8[7]/46,XY[13] | 8 | N | 8q24.21-qter | 3 | P399L | missense | heterozygous | positive |
Novel, unannotated SNPs (see “Note added in proof”).