Table 3.
Associations of ESR1 fusions with clinical parameters in prognostic clinical cohort
| LNN ESR + Prognostic cohort | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Parameters | n |
at least one ESR1-CCDC170 (exon 2 to 8) fusion |
P-value | ESR1-CCDC170 (exon 2) fusion | P-value | ESR1-CCDC170 (exon 8) fusion | P-value | ESR1-AKAP12 | P-value | |||||
| n | % | n | % | n | % | n | % | |||||||
| All patients | 279 | 70 | 25.1% | 33 | 11.8% | 39 | 14.0% | 5 | 1.8% | |||||
| Age at primary surgery | ||||||||||||||
| ≤ 40 years | 29 | 6 | 20.7% | 0.001 | 4 | 13.8% | 0.38 | 4 | 13.8% | 0.26 | 1 | 3.4% | 0.27 | |
| 41–50 years | 81 | 11 | 13.6% | 5 | 6.2% | 5 | 6.2% | 0 | 0.0% | |||||
| 51–70 years | 125 | 36 | 28.8% | 16 | 12.8% | 21 | 16.8% | 3 | 2.4% | |||||
| > 70 years | 44 | 17 | 38.6% | 8 | 18.2% | 9 | 20.5% | 1 | 2.3% | |||||
| Menopausal status | ||||||||||||||
| Premenopausal | 120 | 19 | 15.8% | 0.002 | 10 | 8.3% | 0.12 | 11 | 9.2% | 0.044 | 1 | 0.8% | 0.29 | |
| Postmenopausal | 159 | 51 | 32.1% | 23 | 14.5% | 28 | 17.6% | 4 | 2.5% | |||||
| Surgery type | ||||||||||||||
| Lumpectomy | 178 | 44 | 24.7% | 0.85 | 19 | 10.7% | 0.43 | 25 | 14.0% | 0.97 | 4 | 2.2% | 0.45 | |
| Ablation | 101 | 26 | 25.7% | 14 | 13.9% | 14 | 13.9% | 1 | 1.0% | |||||
| Radiotherapy | ||||||||||||||
| No | 84 | 24 | 28.6% | 0.38 | 14 | 16.7% | 0.10 | 12 | 14.3% | 0.92 | 1 | 1.2% | 0.62 | |
| Yes | 195 | 46 | 23.6% | 19 | 9.7% | 27 | 13.8% | 4 | 2.1% | |||||
| Nodal status | ||||||||||||||
| No lymph nodes | 279 | 70 | 25.1% | 33 | 11.8% | 39 | 14.0% | 5 | 1.8% | |||||
| Positive lymph nodes | 0 | 0 | 0 | 0 | 0 | |||||||||
| Tumor outside lymph nodes | 0 | 0 | 0 | 0 | 0 | |||||||||
| Pathological Tumor classification | ||||||||||||||
| pT1 | 151 | 34 | 22.5% | 0.28 | 17 | 11.3% | 0.61 | 16 | 10.6% | 0.08 | 2 | 1.3% | 0.1 | |
| pT2 + unknown | 119 | 32 | 26.9% | 14 | 11.8% | 20 | 16.8% | 2 | 1.7% | |||||
| pT3 + pT4 | 9 | 4 | 44.4% | 2 | 22.2% | 3 | 33.3% | 1 | 11.1% | |||||
| Tumor grade | ||||||||||||||
| Poor | 131 | 36 | 27.5% | 0.60 | 21 | 16.0% | 0.06 | 21 | 16.0% | 0.56 | 3 | 2.3% | 0.84 | |
| Unknown | 81 | 20 | 24.7% | 9 | 11.1% | 11 | 13.6% | 1 | 1.2% | |||||
| Moderate/Good | 67 | 14 | 20.9% | 3 | 4.5% | 7 | 10.4% | 1 | 1.5% | |||||
| Tumor cell content | ||||||||||||||
| 30–49% | 31 | 9 | 29.0% | 0.82 | 6 | 19.4% | 0.38 | 4 | 12.9% | 0.86 | 1 | 3.2% | 0.81 | |
| 50–70% | 69 | 16 | 23.2% | 7 | 10.1% | 11 | 15.9% | 1 | 1.4% | |||||
| > 70% | 179 | 45 | 25.1% | 20 | 11.2% | 24 | 13.4% | 3 | 1.7% | |||||
| Hormone/ growth factor status (RT-qPCR) | ||||||||||||||
| ESR1 negative | 0 | 0 | 0 | 0 | 0 | |||||||||
| ESR1 positive | 279 | 70 | 25.1% | 33 | 11.8% | 39 | 14.0% | 5 | 1.8% | |||||
| PR negative | 62 | 16 | 25.8% | 0.88 | 9 | 14.5% | 0.46 | 8 | 12.9% | 0.78 | 2 | 3.2% | 0.93 | |
| PR positive | 217 | 54 | 24.9% | 24 | 11.1% | 31 | 14.3% | 3 | 1.4% | |||||
| HER2 non-amplified | 233 | 62 | 26.6% | 0.15 | 29 | 12.4% | 0.30 | 34 | 14.6% | 0.61 | 4 | 1.7% | 0.78 | |
| HER2 amplified | 43 | 7 | 16.3% | 3 | 7.0% | 5 | 11.6% | 1 | 2.3% | |||||
| CCDC170 negative | 26 | 4 | 15.4% | 0.23 | 2 | 7.7% | 0.49 | 3 | 11.5% | 0.70 | 0 | 0.0% | 0.47 | |
| CCDC170 positive | 252 | 66 | 26.2% | 31 | 12.3% | 36 | 14.3% | 5 | 2.0% | |||||
| Disease-free interval | ||||||||||||||
| ≤ 1 year disease-free | 20 | 7 | 35.0% | 0.011 | 2 | 10.0% | 0.08 | 4 | 20.0% | 0.006 | 0 | 0.0% | 0.57 | |
| 1–3 years disease-free | 71 | 18 | 25.4% | 10 | 14.1% | 14 | 19.7% | 2 | 2.8% | |||||
| > 3 years disease-free | 188 | 45 | 23.9% | 21 | 11.2% | 21 | 11.2% | 3 | 1.6% | |||||
| Adjuvant endocrine therapy | ||||||||||||||
| No | 279 | 66 | 23.7% | 33 | 11.8% | 39 | 14.0% | 5 | 1.8% | |||||
| Yes | 0 | 0 | 0 | 0 | 0 | |||||||||
| Adjuvant chemotherapy | ||||||||||||||
| No | 279 | 66 | 23.7% | 33 | 11.8% | 39 | 14.0% | 5 | 1.8% | |||||
| Yes | 0 | 0 | 0 | 0 | 0 | |||||||||
ESR1 estrogen receptor alpha, CCDC170 coiled-coil domain containing 170, AKAP12 A-Kinase Anchoring Protein 12 gene, ESR1-CCDC170 ESR1-CCDC170 gene fusion, ESR1-AKAP12 ESR1-AKAP12 gene fusion, pT primary tumor, pT1 small primary tumor (tumour is 2 cm across or less), pT2 tumour more than 2 cm but no more than 5 cm across, pT3 T3 tumour bigger than 5 cm across, pT4 tumor with phatological stage, RT-qPCR Quantitative Real-Time Polymerase Chain Reaction, PR progesterone receptor, HER2 human epidermal growth factor receptor
Statistically significant differences are indicated in bold