Table 1.
Somatic mutation and variant allele frequency (VAF) of sMDS
| Case | Gene name | Gene mutations | VAF before or without IST (AA), % | VAF after IST (AA), % | VAF (MDS), % |
|---|---|---|---|---|---|
| 1 | U2AF1 | p.Q84P | 3 | 4 | 32 |
| ASXL1 | p.D784fs | — | — | 16 | |
| 2 | ASXL1 | p.R700X | 3 | 31 | 37 |
| 3 | CD55 | p.K76E | 12 | 45 | 45 |
| TRIML1 | p.I461S | — | 44 | 51 | |
| TUSC3 | p.R274X | — | 42 | 46 | |
| ZNF208 | p.S1070P | — | 8 | 44 | |
| PHF6 | p.R274X | — | N/A | 91 | |
| RUNX1 | p.R174X | — | N/A | 40 | |
| ASXL1 | p.G642fs | — | N/A | 26 | |
| KBTBD5 | p.G4C | — | — | 16 | |
| 4 | JAK2 | p.V617F | 26 | No IST treatment | — |
| RAD21 | p.Y67X | — | No IST treatment | 44 | |
| 5 | ZNF577 | p.A410S | 27 | No IST treatment | N/A |
| PIGA | p.L23X | 9 | No IST treatment | N/A | |
| 6 | GNB2L1 | p.D48V | 38 | N/A | N/A |
| NOS3 | p.T364M | 35 | N/A | N/A | |
| FOXRED1 | p.V73M | 33 | N/A | N/A | |
| ASTN2 | p.D141E | 27 | N/A | N/A | |
| CSMD2 | p.G522S | 27 | N/A | N/A | |
| HOXD9 | p.P265Q | 24 | N/A | N/A | |
| ALKBH4 | p.R28G | 20 | N/A | N/A | |
| FAM104B | p.G89A | 10 | N/A | N/A | |
| YTHDF3 | p.I54V | 9 | N/A | N/A | |
| PRPF8 | p.H1875R | 4 | N/A | N/A | |
| FAT3 | p.A2160V | 3 | N/A | N/A | |
| FGFR1 | p.D555V | 3 | N/A | N/A | |
| 7 | RUNX1 | p.R139G | — | 28 | 45 |
| SETBP1 | p.G870S | — | 26 | 45 | |
| TET2 | p.R550X | — | 10 | 46 | |
| CBL | Exon8 splice | — | — | 78 | |
| PTPN11 | p.Q510H | — | N/A | 43 | |
| 8 | ATP2C2 | p.P201S | — | N/A | 27 |
| LRRC31 | p.L144X | — | N/A | 24 | |
| CSMD1 | p.G2845D | — | N/A | 13 | |
| MYRIP | p.K802T | — | N/A | 13 | |
| 9 | SETBP1 | p.D868N | — | — | 47 |
| ASXL1 | p.G642fs | — | N/A | 32 | |
| 10 | TP53 | p.R248Q | N/A | N/A | 92 |
| YARS | Exon4 splice | — | N/A | 43 | |
| SHROOM3 | p.S405F | — | N/A | 39 | |
| ABCA10 | p.P1482H | — | N/A | 36 | |
| GNL3 | p.L142V | — | N/A | 34 | |
| 13 | ASXL1 | p.T754fs | N/A | 48 | 51 |
| RUNX1 | p.S140N | N/A | N/A | 37 | |
| EZH2 | p.R527X | N/A | — | 26 | |
| ETV6 | p.S203fs | N/A | N/A | 24 | |
| 14 | RUNX1 | p.33_34del | N/A | — | 44 |
| ZNF717 | p.I97T | N/A | N/A | 37 | |
| PRDM2 | p.D76E | N/A | N/A | 28 | |
| PARP8 | p.P83Q | N/A | N/A | 25 | |
| U2AF1 | p.S34F | N/A | — | 22 | |
| FMN1 | p.L827F | N/A | N/A | 20 | |
| 15 | STAG2 | p.T586A | N/A | 24 | — |
| 16 | SETBP1 | p.D868N | N/A | 40 | N/A |
| ASXL1 | p.D756fs | N/A | 36 | N/A | |
| 17 | STAT3 | p.Y640F | N/A | 26 | N/A |
| 18 | ZRSR2 | p.R454Q | N/A | 17 | N/A |
| 19 | U2AF1 | p.S34F | N/A | 29 | N/A |
| 21 | ABLIM2 | p.R151Q | N/A | N/A | 60 |
| NEB | p.D5661E | N/A | N/A | 40 | |
| 22 | RUNX1 | p.R80C | N/A | N/A | 34 |
| 24 | U2AF1 | p.S34F | N/A | N/A | 23 |
| 25 | BCORL1 | p.N1454S | N/A | N/A | 63 |
| KDM6A | p.C900F | N/A | N/A | 31 | |
| NF1 | p.P1222S | N/A | N/A | 23 | |
| APC | p.S2075fs | N/A | N/A | 15 | |
| TET2 | p.Q526X | N/A | N/A | 14 | |
| 26 | TMC1 | p.E80G | N/A | N/A | 48 |
| PIGA | p.L76fs | N/A | N/A | 64 | |
| NRXN3 | p.Y9C | N/A | N/A | 40 | |
| WDR96 | p.T1115I | N/A | N/A | 38 | |
| CCR9 | p.M188T | N/A | N/A | 39 | |
| ALDH1B1 | p.K81X | N/A | N/A | 35 | |
| CPD | p.P472S | N/A | N/A | 18 | |
| 27 | EZH2 | p.R298H | N/A | N/A | 90 |
| ASXL1 | p.S577X | N/A | N/A | 42 | |
| SETBP1 | p.D868N | N/A | N/A | 37 |
IST, immunosuppressive therapy; N/A, not available; —, not detected.