Table 2. Mutations identified in matched FFPE, cfDNA and individual CTCs.
AF; Allele frequency; -----; no mutation detected; NC, no coverage at this amplicon. ------/NC; PIK3CA mutation not detected/No coverage at ESR1 mutation site. Shown are COSMIC mutations detected in individual CTCs (C1, 2), CTC pools (Cpool) matched plasma cfDNA and two regions of primary tumor. Patient CTCM167 had two serial samples for both CTCs and plasma cfDNA. All data are summarized in Supplementary Tables 10-13.
| Sample ID | Receptor status | CTC | cfDNA (AF) | Primary tumor region 1 (AF) | Primary tumor region 2 (AF) | |
|---|---|---|---|---|---|---|
| CTCM155 | ER+/PR+/HER2- | C1 | PIK3CA p.E545K; ESR1 p.E380Q | PIK3CA p.E545K (23.7%); ESR1 p.E380Q (3.9%) | PIK3CA p.E545K (67.8%) | PIK3CA p.E545K (72.4%) |
| C2 | PIK3CA p.E545K; ESR1 p.E380Q | |||||
| C3 | PIK3CA p.E545K; ESR1 p.E380Q | |||||
| C4 | PIK3CA p.E545K; ESR1 p.E380Q | |||||
| C5 | PIK3CA p.E545K | |||||
| Cpool | PIK3CA p.E545K; ESR1 p.E380Q | |||||
| CTCM138 | ER+/PR+/HER2- | C1 | -----/NC | PIK3CA p.H1047R (31%); ESR1 p.E380Q (23.8%); TP53 p.R175H (0.3%); ESR1 Y537C (0.43%) | PIK3CA p.H1047R (14.2%); TP53 p.R175H (1.9%) | PIK3CA p.H1047R (36%); TP53 p.R175H (0.99%) |
| C2 | PIK3CA p.H1047R; ESR1 p.E380Q | |||||
| C3 | PIK3CA p.H1047R; ESR1 p.E380Q | |||||
| C4 | ----- | |||||
| C5 | ----- | |||||
| Cpool | PIK3CA p.H1047R; ESR1 p.E380Q | |||||
| CTCM105 | ER-/PR-/HER2- | C1 | KRAS p.G12D | KRAS p.G12D (3.8%); TP53 p.P278R (2.3%) | ----- | ----- |
| C2 | KRAS p.G12D | |||||
| C3 | KRAS p.G12D | |||||
| C4 | ----- | |||||
| C5 | KRAS p.G12D | |||||
| C6 | KRAS p.G12D | |||||
| C7 | NC | |||||
| C8 | KRAS p.G12D | |||||
| C9 | ----- | |||||
| C10 | KRAS p.G12D | |||||
| C11 | NC | |||||
| Cpool | KRAS p.G12D | |||||
| CTCM292 | ER+/PR+/HER2- | C1 | PIK3CA p.E545K; ESR1 p.D538G | PIK3CA p.E545K (0.17%); ESR1 p.D538G (0.27%) | None available | None available |
| C2 | PIK3CA p.E545K; ESR1 p.D538G | |||||
| CTCM167.1 | ER+/PR+/HER2- | C1 | ----- | ----- | ----- | ----- |
| C2 | ----- | |||||
| C3 | ----- | |||||
| C4 | ----- | |||||
| C5 | ----- | |||||
| Cpool | ----- | |||||
| CTCM167.2 | C1 | ----- | ----- | ----- | ----- | |
| C2 | ----- | |||||
| C3 | ----- | |||||
| C4 | ----- | |||||
| C5 | ----- | |||||
| C6 | ----- | |||||
| C7 | ----- | |||||
| C8 | ----- | |||||
| C9 | ----- | |||||
| C10 | ----- | |||||
| C11 | ----- | |||||
| C12 | ----- | |||||
| Cpool | ----- | |||||