Table 2.
Gene mutation analysis by Illumina cancer myeloid panel
| Patient ID | Gene | Mutation type | VAF at T0 | VAF at T4 | VAF at T6 | VAF at T7 | VAF at T8 | VAF at T10 | T0 vs Therapy ***p < 0.01; **p < 0.05 | Clinical outcome | AML evolution | Time to AML evolution (months) | Duration of response (months) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | TP53 | c.376-1G>A - splice acceptor | 18,10 | 38,75 | *** | SD | YES | 8 | 0 | ||||
| 2 | DNMT3A | P904L | 15,68 | 16,63 | ns | CR | YES | 28 | 24 | ||||
| 3 | IDH2 | R140Q | 37,40 | 8,50 | *** | mCR | YES | 36 | 10 | ||||
| SRSF2 | P95L | 51,90 | 10,60 | *** | |||||||||
| ASXL1 | G646fs | 32,00 | 9,90 | *** | |||||||||
| 4 | ASXL1 | G646 | 12,10 | 20,30 | *** | HI | YES | 9 | 5 | ||||
| RUNX1 | G135D | 11,70 | 21,70 | *** | |||||||||
| IDH1 | R132C | 0,32 | 21,20 | *** | |||||||||
| KIT | E562* | 2,40 | 5,90 | *** | |||||||||
| SRSF2 | P95L | 4,80 | 29,10 | *** | |||||||||
| 5 | SF3B1 | R625C | 14,48 | 18,60 | ** | SD | YES | 14 | 0 | ||||
| 6 | ASXL1 | G644fs | 10,60 | 5,70 | *** | PR | YES | 10 | 6 | ||||
| RUNX1 | D133fs | 10,60 | 4,50 | *** | |||||||||
| 7 | DNMT3A | R882C | 30,10 | 44,90 | *** | SD | YES | 20 | 0 | ||||
| RUNX1 | c.509-3C>G splice donor | 14,50 | 43,30 | *** | |||||||||
| NRAS | G12A | 0 | 9,50 | *** | |||||||||
| 8 | ASXL1 | L890F | 7,12 | 13,39 | *** | CR | NO | 0 | 52 | ||||
| 9 | SF3B1 | K700E | 35,10 | 39,00 | ** | HI + mCR | NO | 0 | 16 | ||||
| TET2 | K306fs | 27,80 | 38,20 | *** | |||||||||
| TET2 | L1360fs | 26,70 | 38,20 | *** | |||||||||
| 10 | TET2 | L264fs | 25,40 | 30,50 | ** | HI + mCR | NO | 0 | 47 | ||||
| TET2 | I1873T | 25,80 | 30,00 | ** | |||||||||
| PHF6 | Y303* | 42,00 | 46,90 | *** | |||||||||
| 11 | TET2 | K875fs | 11,80 | 14,20 | ** | HI | YES | 21 | 19 | ||||
| TET2 | Y1245fs | 8,40 | 12,10 | ** | |||||||||
| SRSF2 | p95H | 9,80 | 5,40 | ** | |||||||||
| ASXL1 | G646fs | 10,10 | 14,10 | ** | |||||||||
| RUNX1 | S322* | 5,70 | 8,20 | ** | |||||||||
| 12 | ASXL1 | G643fs | 8,40 | 10,20 | ** | HI + mCR | NO | 0 | 6 | ||||
| 13 | DNMT3A | R882C | 19,80 | 21,70 | ** | HI | YES | 25 | 9 | ||||
| CBL | c.1096-7A>G Spice site | 14,30 | 19,90 | *** | |||||||||
| IDH2 | R140Q | 19,10 | 22,10 | *** | |||||||||
| CEBPA | inframe TAD2 | 32,50 | 32,60 | ns | |||||||||
| 14 | ASXL1 | G635fs | 27,30 | 14,90 | *** | CR | NO | 0 | 50 | ||||
| 15 | TP53 | c.97-2A>C - splice acceptor | 50,03 | 3,10 | *** | HI + mCR | YES | 15 | 11 | ||||
| 16 | DNMT3A | R882S | 16,20 | 5,00 | *** | CR | NO | 0 | 5 | ||||
| IDH2 | R140Q | 18,10 | 3,60 | *** | |||||||||
| 17 | no somatic mutations | N/A | HI | NO | 0 | 18 | |||||||
| 18 | no somatic mutations | N/A | CR | NO | 0 | 50 | |||||||
| 19 | TET2 | G1288fs | 10,45 | 0,32 | *** | HI | NO | 0 | 2 | ||||
| TET2 | R1451fs | 19,13 | 14,52 | *** | |||||||||
| 20 | TET2 | R1366H | 50,10 | 48,80 | ns | SD | YES | 14 | 0 | ||||
| SRSF2 | P95H | 9,30 | 18,80 | *** | |||||||||
| SRSF2 | H99N | 5,20 | 9,40 | *** | |||||||||
| SRSF2 | P96FS | 5,00 | 7,60 | ** | |||||||||
| CEBPA | H219fs | 0 | 10,40 | *** | |||||||||
| CEBPA | S193fs | 0 | 10,10 | *** | |||||||||
| ASXL1 | G646fs | 13,00 | 15,10 | ** | |||||||||
| 21 | NRAS | G12V | 18,72 | 15,57 | ** | HI | NO | 0 | 3 | ||||
| TET2 | Q969fs | 32,13 | 36,61 | *** | |||||||||
| TET2 | E1401* | 31,99 | 38,24 | *** | |||||||||
| SRSF2,MFSD11 | P96fs | 10,46 | 6,97 | *** | |||||||||
| SRSF2,MFSD11 | P95H | 20,69 | 20,00 | ns | |||||||||
| CEBPA | P196dup | 38,86 | 20,69 | *** | |||||||||
| RUNX1 | R157fs | 31,07 | 34,95 | ** | |||||||||
| 22 | EZH2 | S669R | 44,90 | 32,10 | *** | HI | NO | 0 | 5 | ||||
| ASXL1 | Y591fs | 25,30 | 18,20 | *** | |||||||||
| RUNX1 | c.497_508+3dupGAAGTGGAAGAGGTA Splice region | 12,00 | 9,20 | ** | |||||||||
| ZRSR2 | E65* | 42,70 | 33,60 | *** | |||||||||
| ZRSR2 | E74* | 3,10 | 5,30 | *** | |||||||||
| 23 | TET2 | P1278Q | 55,10 | 49,60 | *** | HI | YES | 11 | 7 | ||||
| U2AF1 | S34F | 5,60 | 9,50 | *** | |||||||||
| 24 | TET2 | H650fs | 35,83 | 33,74 | ** | SD | YES | 9 | 0 | ||||
| TET2 | T1884A | 38,51 | 37,21 | ns | |||||||||
| CBL | G397V | 38,99 | 36,36 | ** | |||||||||
| ASXL1 | Q592* | 37,62 | 35,75 | ** | |||||||||
| 25 | TP53 | V73Argfs | 12,31 | 1,74 | *** | CR | YES | 9 | 5 | ||||
| 26 | TET2 | E846* | 8,90 | 7,00 | ** | mCR | YES | 13 | 3 | ||||
| SRSF2 | P95H | 7,80 | 6,20 | ns | |||||||||
| ASXL1 | R693* | 9,50 | 7,30 | ** | |||||||||
| 27 | TP53 | H179Q | 1,90 | 5,79 | *** | SD | NO | 0 | 0 | ||||
| ASXL1 | G646fs | 29,73 | 22,45 | *** | |||||||||
| U2AF1 | Q157P | 38,97 | 25,41 | *** | |||||||||
| 28 | TET2 | C1135Y | 12,00 | 29,70 | *** | HI + mCR | NO | 0 | 14 | ||||
| TET2 | Y1244fs | 12,70 | 29,60 | *** | |||||||||
| ASXL1 | A640fs | 12,50 | 30,40 | *** | |||||||||
| RUNX1 | N182fs | 1,90 | 23,40 | *** | |||||||||
| 29 | no somatic mutations | N/A | CR | NO | 0 | 32 | |||||||
| 30 | NRAS | Y64C | 1,14 | 6,26 | *** | mCR | NO | 0 | 33 | ||||
| TET2 | P413fs | 21,02 | 30,47 | *** | |||||||||
| TET2 | Q1507* | 51,44 | 42,60 | *** | |||||||||
| ASXL1 | S1168fs | 42,25 | 41,93 | ns | |||||||||
| RUNX1 | P95T | 41,99 | 43,73 | ** |
VAF variant allele frequency; T0 baseline; T4 4th cycle therapy; T6 6th cycle therapy; T7 7th cycle therapy; T8 8th cycle therapy; T10 10th cycle therapy; ns not significant; N/A not applicable
***p < 0.01 vs T0; **p < 0.05 vs T0