Table 4 Prevalence of ESR1 fusions in the different analyzed cohorts
From: The prognostic and predictive value of ESR1 fusion gene transcripts in primary breast cancer
At least one ESR1-CCDC170 (exon 2 to 8) fusion | ESR1-CCDC170 exon 2 | ESR1-CCDC170 exon 8 | ESR1_AKAP12 | ESR1-ARMT1 | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Total Count | no | yes | % | % of total count | no | yes | % | no | yes | % | no | yes | % | % of total count | no | yes | % | % of total count | ||
All samples studied | 788 | ESR1 negative | 128 | 3 | 2.3% | 22.0% | 128 | 3 | 2.29% | 130 | 1 | 0.76% | 130 | 1 | 0.76% | 2.7% | 131 | 0 | 0.00% | 1.1% |
ESR1 positive | 487 | 170 | 25.9% | 565 | 92 | 14.00% | 556 | 101 | 15.37% | 637 | 20 | 3.04% | 648 | 9 | 1.37% | |||||
1st line Tamoxifen | 235 | ESR1 negative | 0 | 0 | 0% | 24.7% | 0 | 0 | 0% | 0 | 0 | 0% | 0 | 0 | 0% | 2.6% | 0 | 0 | 0% | 0.4% |
ESR1 positive | 177 | 58 | 24.7% | 204 | 31 | 13.19% | 201 | 34 | 14.47% | 229 | 6 | 2.55% | 234 | 1 | 0.43% | |||||
1st line AI | 87 | ESR1 negative | 0 | 0 | 0% | 35.6% | 0 | 0 | 0% | 0 | 0 | 0% | 0 | 0 | 0% | 8.0% | 0 | 0 | 0% | 3.4% |
ESR1 positive | 56 | 31 | 35.6% | 68 | 19 | 21.84% | 70 | 17 | 19.54% | 80 | 7 | 8.05% | 84 | 3 | 3.45% | |||||
1st line endocrine cohort | 322 | ESR1 negative | 0 | 0 | 0% | 27.6% | 0 | 0 | 0% | 0 | 0 | 0% | 0 | 0 | 0% | 4.0% | 0 | 0 | 0% | 1.2% |
ESR1 positive | 233 | 89 | 27.6% | 272 | 50 | 15.53% | 271 | 51 | 15.84% | 309 | 13 | 4.04% | 318 | 4 | 1.24% | |||||
Primary cohort | 566 | ESR1 negative | 113 | 3 | 2.6% | 17.8% | 113 | 3 | 2.59% | 115 | 1 | 0.86% | 115 | 1 | 0.86% | 1.9% | 116 | 0 | 0% | 0.7% |
ESR1 positive | 352 | 98 | 21.8% | 403 | 47 | 10.44% | 392 | 58 | 12.89% | 440 | 10 | 2.22% | 446 | 4 | 0.89% | |||||
Primary LNP cohort | 192 | ESR1 negative | 26 | 0 | 0.0% | 15.6% | 26 | 0 | 0.00% | 26 | 0 | 0.00% | 26 | 0 | 0.00% | 2.6% | 26 | 0 | 0% | 0.5% |
ESR1 positive | 136 | 30 | 18.1% | 152 | 14 | 8.43% | 148 | 18 | 10.84% | 161 | 5 | 3.01% | 165 | 1 | 0.60% | |||||
Primary LNN cohort | 369 | ESR1 negative | 87 | 3 | 3.3% | 18.7% | 87 | 3 | 3.33% | 89 | 1 | 1.11% | 89 | 1 | 1.11% | 1.6% | 90 | 0 | 0.0% | 0.8% |
ESR1 positive | 213 | 66 | 23.7% | 246 | 33 | 11.83% | 240 | 39 | 13.98% | 274 | 5 | 1.79% | 276 | 3 | 1.08% | |||||
Normal breast tissue of breast cancer patients | 36 | ESR1 negative | 0 | 0 | 0% | 66.7% | 0 | 0 | 0% | 0 | 0 | 0% | 0 | 0 | 0.0% | 0 | 0 | 0% | 0.0% | |
ESR1 positive | 12 | 24 | 66.7% | 18 | 18 | 50.0% | 23 | 13 | 36.1% | 36 | 0 | 0.0% | 36 | 0 | 0.0% | |||||
Tissue of breast fibroadenoma's | 16 | ESR1 negative | 0 | 0 | 0% | 25.0% | 0 | 0 | 0% | 0 | 0 | 0% | 0 | 0 | 0% | 0.0% | 0 | 0 | 0% | 0.0% |
ESR1 positive | 12 | 4 | 20.0% | 16 | 0 | 0.0% | 16 | 4 | 20.0% | 16 | 0 | 0.0% | 16 | 0 | 0.0% | |||||
Tissue of breast DCIS | 13 | ESR1 negative | 0 | 0 | 0% | 7.7% | 0 | 0 | 0% | 0 | 0 | 0% | 0 | 0 | 0% | 0.0% | 0 | 0 | 0% | 0.0% |
ESR1 positive | 12 | 1 | 7.7% | 13 | 0 | 0.0% | 13 | 0 | 0.0% | 13 | 0 | 0.0% | 13 | 0 | 0.0% | |||||
Normal breast tissue of healthy women | 10 | ESR1 negative | 0 | 0 | 0% | 10.0% | 0 | 0 | 0% | 0 | 0 | 0% | 0 | 0 | 0% | 0.0% | 0 | 0 | 0% | 0.0% |
ESR1 positive | 9 | 1 | 10.0% | 9 | 1 | 10.0% | 10 | 0 | 0.0% | 10 | 0 | 0.0% | 10 | 0 | 0.0% | |||||