Details of TET2 anomalies in 22 of 96 patients with MDS
| UPN . | Sex . | Age . | FAB . | WHO . | Karyotype . | IPSS . | Exon . | Nucleotide change . | Consequence . | Type of mutation . | TET2 locus status* . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10 | F | 56 | RAEB | RAEB2 | 46, XX,del(5)(q12q34)(2)/ 46, id,add(1)(p3?3),r(13) (8)/ 45, idem,del(9)(p13),−17 (2) / 46,XX (10) | Int-2 | 3 | delA 3166 | p.Gln769 FS | Frameshift | 1 |
| 12 | F | 56 | RA | RA | 47, XX, +min1, +mar | Int-1 | 3 and 7 | c.4755A>G + c.2490C>T | p.Lys1299Glu+ p.Arg544X | Missense + Nonsense | 2 |
| 30 | M | 73 | RAEB | RAEB1 | 46, XY (20) | Int-1 | 11 | insA 5540 | p.Tyr1560 FS | Frameshift | 1 |
| 38 | M | 61 | RAEB | RAEB1 | 46, XY (20) | Int-1 | 3 | c.2913 C>T | p.Gln685X | Nonsense | 2 (UPD)† |
| 51 | F | 49 | RA | RA | 46, XX (20) | Low | 11 | No amplification of 5′ Exon 11 | 1 | ||
| 59 | M | 68 | RAEB | RAEB1 | 46, XY (20) | Int-1 | 11 | c.6475T>C | p.Leu1872Pro | Missense | 1 |
| 72 | M | 80 | RARS | RARS-T | 46, XY (20) | Low | 3 | del 2834_2835 | p.His658 FS | Frameshift | 1 |
| 79 | F | 65 | RAEB | RAEB2 | 46, XX (20) | Int-2 | 3 | delT 2685 + c.6316T>G | p.Ser609 FS + p.Leu1819X | Frameshift + Nonsense | 2 |
| 84 | M | 74 | RAEB | RAEB1 | 46, XY (20) | Int-1 | 3 | ins2540_2544 | del/p.Leu560 FS | Deletion + Frameshift | 2‡ |
| 91 | M | 75 | RAEB | RAEB2 | 46, XY (20) | Int-2 | 3 | delT 2944 | p.Leu699X | Nonsense | 1 |
| 110 | M | 92 | RA | RA | 46, XY (20) | Low | 11 | p.6360C>T | p.Gln1834X | Nonsense | 1 |
| 111 | M | 75 | RARS | RCMD-RS | 46, XY (20) | Low | 3 | delG 2994 | p.Glu711 FS | Frameshift | 1 |
| 115 | M | 71 | RAEB | RAEB2 | 46, XY (20) | Int-2 | 3 and 11 | p.3688C>T + delA 6507 | p.Gln943X + p.Thr1883 FS | Nonsense + Frameshift | 2 |
| 116 | M | 83 | RA | RCMD | 45,XY,−20 (2) / 46, XY (18) | Int-1 | 10 | p.5253C>T | p.Arg1465X | Nonsense | 1 |
| 129 | M | 60 | RAEB | RAEB1 | 46,XY,del(11)(q13) (20) | Int-1 | 4 and 11 | delG 4271 + c.6478T>C | p.Glu1137 FS + p.Ile1873Thr | Frameshift + Missense | 2 |
| 137 | M | 70 | RAEB | RAEB1 | 46, XY (20) | Int-1 | 5 | g.4366-1G>T | mutation of splice acceptor site | Mut splice | 2 (UPD)† |
| 143 | M | 79 | MDS-U | RA | 46, XX (20) | Low | 11 | insC 6507 | p.Thr1883 FS | Frameshift | 1 |
| 146 | M | 80 | RAEBt | AML | 43,XY,-4,-5,-6,-7, +?der(5;7)(p10;q10), add(11)(p15),-17,-18, +r(?),+mar,+var(17) /46,XY (4) | High | 3 | insCT 3581 | pGly908 FS | Frameshift | 2‡ |
| 150 | F | 61 | RA | RA | 46, XY (20) | Low | 9 and 11 | delG 4932 + del5521_5524 | p.Glu1357 FS + pThr1554 FS | Frameshift × 2 | 2 |
| 187 | F | 74 | RAEB | RAEB1 | 46, XX, −7, +mar (3) / 46, XX (17) | High | 11 | del 5583_5608 | p.Pro1575 FS | Frameshift | 1 |
| 210 | M | 65 | RAEB | RAEB1 | 45,Y,t(X;4)(p21;q24) | Int-1 | 11 | c.5730C>T | del + p.Gln1624X | Deletion + Nonsense | 2†‡ |
| 211 | F | 56 | RAEB | RAEB2 | 46, XX, t(3;4)(q26;q24) | High | 11 | del + c.6478T>C | del + p.Ile1873Thr | Deletion + Missense | 2†‡ |
| UPN . | Sex . | Age . | FAB . | WHO . | Karyotype . | IPSS . | Exon . | Nucleotide change . | Consequence . | Type of mutation . | TET2 locus status* . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10 | F | 56 | RAEB | RAEB2 | 46, XX,del(5)(q12q34)(2)/ 46, id,add(1)(p3?3),r(13) (8)/ 45, idem,del(9)(p13),−17 (2) / 46,XX (10) | Int-2 | 3 | delA 3166 | p.Gln769 FS | Frameshift | 1 |
| 12 | F | 56 | RA | RA | 47, XX, +min1, +mar | Int-1 | 3 and 7 | c.4755A>G + c.2490C>T | p.Lys1299Glu+ p.Arg544X | Missense + Nonsense | 2 |
| 30 | M | 73 | RAEB | RAEB1 | 46, XY (20) | Int-1 | 11 | insA 5540 | p.Tyr1560 FS | Frameshift | 1 |
| 38 | M | 61 | RAEB | RAEB1 | 46, XY (20) | Int-1 | 3 | c.2913 C>T | p.Gln685X | Nonsense | 2 (UPD)† |
| 51 | F | 49 | RA | RA | 46, XX (20) | Low | 11 | No amplification of 5′ Exon 11 | 1 | ||
| 59 | M | 68 | RAEB | RAEB1 | 46, XY (20) | Int-1 | 11 | c.6475T>C | p.Leu1872Pro | Missense | 1 |
| 72 | M | 80 | RARS | RARS-T | 46, XY (20) | Low | 3 | del 2834_2835 | p.His658 FS | Frameshift | 1 |
| 79 | F | 65 | RAEB | RAEB2 | 46, XX (20) | Int-2 | 3 | delT 2685 + c.6316T>G | p.Ser609 FS + p.Leu1819X | Frameshift + Nonsense | 2 |
| 84 | M | 74 | RAEB | RAEB1 | 46, XY (20) | Int-1 | 3 | ins2540_2544 | del/p.Leu560 FS | Deletion + Frameshift | 2‡ |
| 91 | M | 75 | RAEB | RAEB2 | 46, XY (20) | Int-2 | 3 | delT 2944 | p.Leu699X | Nonsense | 1 |
| 110 | M | 92 | RA | RA | 46, XY (20) | Low | 11 | p.6360C>T | p.Gln1834X | Nonsense | 1 |
| 111 | M | 75 | RARS | RCMD-RS | 46, XY (20) | Low | 3 | delG 2994 | p.Glu711 FS | Frameshift | 1 |
| 115 | M | 71 | RAEB | RAEB2 | 46, XY (20) | Int-2 | 3 and 11 | p.3688C>T + delA 6507 | p.Gln943X + p.Thr1883 FS | Nonsense + Frameshift | 2 |
| 116 | M | 83 | RA | RCMD | 45,XY,−20 (2) / 46, XY (18) | Int-1 | 10 | p.5253C>T | p.Arg1465X | Nonsense | 1 |
| 129 | M | 60 | RAEB | RAEB1 | 46,XY,del(11)(q13) (20) | Int-1 | 4 and 11 | delG 4271 + c.6478T>C | p.Glu1137 FS + p.Ile1873Thr | Frameshift + Missense | 2 |
| 137 | M | 70 | RAEB | RAEB1 | 46, XY (20) | Int-1 | 5 | g.4366-1G>T | mutation of splice acceptor site | Mut splice | 2 (UPD)† |
| 143 | M | 79 | MDS-U | RA | 46, XX (20) | Low | 11 | insC 6507 | p.Thr1883 FS | Frameshift | 1 |
| 146 | M | 80 | RAEBt | AML | 43,XY,-4,-5,-6,-7, +?der(5;7)(p10;q10), add(11)(p15),-17,-18, +r(?),+mar,+var(17) /46,XY (4) | High | 3 | insCT 3581 | pGly908 FS | Frameshift | 2‡ |
| 150 | F | 61 | RA | RA | 46, XY (20) | Low | 9 and 11 | delG 4932 + del5521_5524 | p.Glu1357 FS + pThr1554 FS | Frameshift × 2 | 2 |
| 187 | F | 74 | RAEB | RAEB1 | 46, XX, −7, +mar (3) / 46, XX (17) | High | 11 | del 5583_5608 | p.Pro1575 FS | Frameshift | 1 |
| 210 | M | 65 | RAEB | RAEB1 | 45,Y,t(X;4)(p21;q24) | Int-1 | 11 | c.5730C>T | del + p.Gln1624X | Deletion + Nonsense | 2†‡ |
| 211 | F | 56 | RAEB | RAEB2 | 46, XX, t(3;4)(q26;q24) | High | 11 | del + c.6478T>C | del + p.Ile1873Thr | Deletion + Missense | 2†‡ |
AML indicates acute myeloid leukemia; F, female; FAB, French-British-American; IPSS, International Prognostic Scoring System; M, male; MDS-U, undefined myelodysplastic syndromes; RA, refractory anemia; RAEB, refractory anemia with excess blasts; RAEB1, RA with an excess of blasts less than 10%; RAEB2, RAEB more than 10% blasts; RAEBt, RAEB in transformation; RARS, refractory anemia with ringed sideroblasts; RARS-T, RARS with thrombocytosis; RCMD, refractory cytopenia with multilineage dysplasia; RCMD-RS, refractory cytopenia with multilineage dysplasia with ringed sideroblasts; TET, ten-eleven translocation; and WHO, World Health Organization.
TET2 locus status corresponds to the number of anomalies detected by PCR and sequencing and to the anomalies of the 4q24 region.
Anomalies detected by the combination of sequencing and SNP arrays.
Anomalies detected by the combination of sequencing and conventional cytogenetics.