Table 1.
Mutational profile of AML#1 at diagnosis and follow-up.
| Pt | Gene | Locus | NM_ID | Exon | Type | Coding | Amino acid change | VAF (%) | Variant effect |
|---|---|---|---|---|---|---|---|---|---|
| AML#1Dx | DNMT3A | chr2:25462022 | NM_022552.4 | 20 | SNV | c.2385G > A | p.Trp795Ter | 4.45 | Nonsense |
| TET2 | chr4:106164773 | NM_001127208.2 | 6 | SNV | c.3641G > A | p.Arg1214Gln | 3.20 | Missense | |
| IDH2 | chr15:90631837 | NM_002168.3 | 4 | SNV | c.515G > A | p.Arg172Lys | 6.06 | Missense | |
| BCOR | ChrX:39931683 | NM_001123385.1 | 4 | INDEL | c.2915_2916insA | p.Tyr972Ter | 4.76 | Nonsense | |
| AML#1F-UP | DNMT3A | chr2:25462022 | NM_022552.4 | 20 | SNV | c.2385G > A | p.Trp795Ter | 38.20 | Nonsense |
| IDH2 | chr15:90631837 | NM_002168.3 | 4 | SNV | c.515G > A | p.Arg172Lys | 39.80 | Missense | |
| TP53 | chr17:7578242 | NM_000546.5 | 6 | SNV | c.607G > A | p.Val203Met | 5.25 | Missense | |
| BCOR | chrX:39931683 | NM_001123385.1 | 4 | INDEL | c.2915_2916insA | p.Tyr972Ter | 42.08 | Nonsense |
Pt: patient; Dx: diagnosis; F-UP: follow-up; SNV: single-nucleotide variant; INDEL: insertion/deletion; ins: insertion.