Table 1.
Genetic alterations in the case identified by NGS.
| Genes | Alternations | Nucleotide change |
|---|---|---|
| ARID1B | p.S36F Missense mutation in exon 1 | c.107C>T (p.S36F) |
| ASXL1 | p.E332D Missense mutation in exon 11 | c.996G>C (p.E332D) |
| EGFR | p.E746_A750del Non-shift code deletion mutation in exon 19 | c.2235_2249delGGAATTAAGA GAAGC (p.E746_A750del) |
| KEAP1 | p.A392T Missense mutation in exon 3 | c.1174G>A (p.A392T) |
| MDM2 | Amplification | - |
| PDCD1 | p.R231 Truncation in exon 5 | c.691C>T (p.R231*) |
| PGR | p.Q78H Missense mutation in exon 1 | c.234G>T (p.Q78H) |
| PTEN | p.K237Cfs*17 7 Frameshift mutation in exon 7 | c.709_715delAAGTTCA (p.K237Cfs*17) |
| RB1 | Single copy number missing | - |
| ROS | p.G1809E Missense mutation in exon 33 | c.5426G>A (p.G1809E) |
| SMAD4 | c.1447+2dupT Shear mutation in Intron 11 | c.1447+2dupT |
| TERT | Amplification | - |
–, not applicable.