Table 3.
Characteristics of patients and samples from the retrospective metastatic ILC cohort with mutated metastatic samples
| Pt1 | Pt2 | Pt6 | Pt58 | Pt62 | Pt67 | Pt78 | |
|---|---|---|---|---|---|---|---|
| ESR1 mutations (AF) | Y537S (0.24%) | D538G (22.3%) | Y537S (27%) | D538G (16.9%) | D538G (15.0%) | Y537S (8.0%) Y537N (6.4%) D538G (0.8%) |
E380Q (5.5%) |
| Nr of primary samples (P & PLN) evaluated | 7 | 3 | 5 | 2 | 2 | 2 | 1 |
| Age | 45 | 42 | 49 | 52 | 61 | 54 | 55 |
| PgR | + | − | + | + | − | + | + |
| HER2 | − | − | − | − | − | − | + |
| Grade | 2 | 2 | 3 | 2 | 2 | NA | 2 |
| Ki67 | 20 | 10 | 10 | 20 | 18 | 15 | NA |
| Histotype | Trabe- | ||||||
| cular | Mixed NC | Mixed NC | Trabecular | Classic | Classic | Mixed NC | |
| pT | 1 | 1 | 1 | 2 | 2 | 1 | 4 |
| pN | 1 | 1 | 1 | 2 | 3 | 3 | 0 |
| De novo metastatic | Yes | No | Yes | No | No | No | Yes |
| Type | AI | SERM + AI | AI | AI | AI | SERM | AI |
| Duration (yrs) | 3.8 | 2.8 + 1.9 | 7.2 | 8 | 6.8 | 4.7 | 1.4 |
| Setting | Met | Adj+ | |||||
| met | Met | Adj | Adj | Adj | Met | ||
| Time between diagnosis and sampling | 3.9 | 2.0 | 7.8 | 0 | 0 | 0 | 1.3 |
| Organ samples | Bone | Bone | Bone | Liver | Bone | Peritoneum | Peritoneum |
Patients 6 and 78 had metastases that were sampled at different times during disease evolution and only the second one harboring the ESR1 mutation was reported in this table
AF allelic frequency, AI aromatase inhibitor, ET endocrine therapy, NA not available, Mixed NC mixed non-classic, P primary, PLN positive lymph node, SERM selective estrogen receptor modulator