Table 1.
Summary of genetic mutations in CSF and blood plasma samples (January 2017)
| Sample | Gene | Mutation type | Mutation result | Abundance (%) |
|---|---|---|---|---|
| CSF | EGFR | Non-frameshift deletion mutation | NM_005228.3(EGFR):c.2235_2249delGGAATTAAGAGAAGC(p.Glu746_Ala750del) | 3.23 |
| EGFR | Missense mutation | NM_005228.3(EGFR):c.2369C>T(p.Thr790Met) | 3.18 | |
| EGFR | Missense mutation | NM_005228.3(EGFR):c.2389T>A(p.Cys797Ser) | 3.11 | |
| Blood plasma | EGFR | Missense mutation | NM_005228.3(EGFR):c.2369C>T(p.Thr790Met) | 39.10 |
| EGFR | Non-frameshift deletion mutation | NM_005228.3(EGFR):c.2235_2249delGGAATTAAGAGAAGC(p.Glu746 Ala750del) | 30.86 | |
| EGFR | Missense mutation | NM_005228.3(EGFR):c.2389T>A(p.Cys797Ser) | 15.95 |
CSF cerebrospinal fluid, EGFR epidermal growth factor receptor gene