Table 2. List of patients, sample status, and pathogenic genes detected in the DNA/RNA target sequencing data of the smear samples.
| Patient | Clinical diagnosis | staining | Elapsed years | Mutation | |||
|---|---|---|---|---|---|---|---|
| Gene | Nucleic acid | Amino acid | VAF (%) | ||||
| #097 | AML | no | 0.2 | - | - | - | - |
| #112 | AML | no | 0.1 | NRAS | c.181C>A | p.Gln61Lys | 40.21 |
| #220 | t-AML | no | 0.1 | NRAS | c.182A>G | p.Gln61Arg | 46.84 |
| #226 | AML | MGG | 0.1 | CEBPA | c.912_913insTTG | p.Lys304_Gln305insLeu | 88.66 |
| FLT3 | c.1747_1794dup | ITD16aa | 14.89 | ||||
| #152 | AML-MRC | MGG | 0.2 | - | - | - | - |
| #111 | AML | no | 0.2 | FLT3 | c.1836_1837insdup* | ITD17aa | 12.53 |
| #161 | AML | no | 0.1 | IDH1 | c.395G>A | p.Arg132His | 44.53 |
| #175 | AML | no | 0.1 | TP53 | c.488A>G | p.Tyr163Cys | 39.92 |
| #176 | AML | no | 0.2 | ASXL1 | c.1605dupT | p.Pro536SerfsTer8 | 21.31 |
| FLT3 | c.2039C>T | p.Ala680Val | 10.80 | ||||
| #232 | AML | no | 0.3 | SRSF2 | c.284C>A | p.Pro95His | 51.47 |
| NPM1 | c.860_863dupTCTG | p.Trp288CysfsTer12 | 46.70 | ||||
| #256 | AML | no | 0.3 | CEBPA | c.917_934delGCAACGTGGAGACGCAGC | p.Arg306_Gln311del | 49.78 |
| CEBPA | c.350dupG | p.Ala118ArgfsTer52 | 43.03 | ||||
| WT1 | c.1223T>A | p.Leu408Ter | 83.64 | ||||
| GATA2 | c.949A>G | p.Asn317Asp | 44.52 | ||||
| #191 | AML | no | 0.3 | NRAS | c.34G>A | p.Gly12Ser | 37.97 |
| TET2 | c.4144delC | p.His1382ThrfsTer66 | 46.88 | ||||
| TET2 | c.1842dupG | p.Leu615AlafsTer23 | 38.29 | ||||
| NPM1 | c.863_864insCATG | p.Trp288CysfsTer12 | 44.12 | ||||
| PTEN | c.802-2A>T | Splicing | 5.51 | ||||
| #205 | AML | MGG | 1 | SRSF2 | c.284_307del | p.Pro95_Arg102del | 45.87 |
| IDH2 | c.419G>A | p.Arg140Gln | 33.72 | ||||
| STAG2 | c.1810C>T | p.Arg604Ter | 27.27 | ||||
| STAG2 | c.2534-1G>A | Splicing | 6.69 | ||||
| #153 | AML-MRC | MGG | 0.1 | DDX41 | c.1496dupC | p.Ala500CysfsTer9 | 48.83 |
| DDX41 | c.1574G>A | p.Arg525His | 12.16 | ||||
| SRSF2 | c.284C>G | p.Pro95Arg | 11.69 | ||||
| #188 | aCML | MGG | 1 | KRAS | c.35G>T | p.Gly12Val | 37.97 |
| #101 | MDS | MGG | 0.3 | U2AF1 | c.101C>T | p.Ser34Phe | 31.77 |
| #113 | MDS | MGG | 11 | ATM | c.3078delG | p.Trp1026CysfsTer3 | 6.09 |
| #233 | MDS | MGG | 0.1 | TP53 | c.659A>G | p.Tyr220Cys | 18.65 |
| TP53 | c.586C>T | p.Arg196Ter | 15.30 | ||||
| #119 | MDS | no | 0.4 | RUNX1 | c.417C>A | p.Asn139Lys | 48.05 |
| RUNX1 | c.610C>T | p.Arg204Ter | 29.65 | ||||
| EZH2 | c.458A>G | p.Tyr153Cys | 40.73 | ||||
| #189 | MDS | MGG | 0.3 | TP53 | c.817C>T | p.Arg273Cys | 17.34 |
| ASXL1 | c.2350delG | p.Asp784MetfsTer34 | 3.04 | ||||
| #106 | MDS | no | 4 | - | - | - | - |
AML, acute myeloid leukemia; t, therapy-related; AML-MRC, AML with myelodysplasia-related changes; aCML, atypical chronic myeloid leukemia; MDS, myelodysplastic syndromes; MGG, May-Grünwald Giemsa; NA, not available.
*: c.1836_183 7insCGGC1788_1836dup.