Clinical and pathologic characteristics of 5 patients with infiltrating ductal carcinoma carriers of the D538G-ER mutation
Stage at diagnosis . | Hormone receptors at primary tumor . | ER mutation status at diagnosis . | Adjuvant hormonal treatments (months) . | Hormonal treatments for metastatic disease (months) . | Hormone receptors at metastasis . | Tumor content (%) . | ER minor allele frequency (mutant/WT, %) . |
---|---|---|---|---|---|---|---|
Local | NA | WT | NA | Aromazin (24) | NA | 70 | 35 |
Fulvestrant (13) | |||||||
Local | ER 0 | WT | Tamoxifen (60) | Anastrazole (3) | ER +2 | 50 | 22 |
PR +1 | PR +3 | ||||||
Local | ER +1 | WT | Tamoxifen (60) | Anastrazole (14) | ER +1 | 30 | 16 |
PR +3 | Fulvestrant (9) | ||||||
Local | ER +3 | WT | Tamoxifen (20) | Exemestane (15) | ER +3, | 80 | 31 |
PR +3, | Anastrazole (32) | Fulvestrant (28) | PR +3, | ||||
Metastatic | ER +3, | WT | NA | Tamoxifen + goserelin (14) | NA | 80 | 41 |
PR +3, | Anastrazola + goserelin (14) | ||||||
Fulvestrant (8) |
Stage at diagnosis . | Hormone receptors at primary tumor . | ER mutation status at diagnosis . | Adjuvant hormonal treatments (months) . | Hormonal treatments for metastatic disease (months) . | Hormone receptors at metastasis . | Tumor content (%) . | ER minor allele frequency (mutant/WT, %) . |
---|---|---|---|---|---|---|---|
Local | NA | WT | NA | Aromazin (24) | NA | 70 | 35 |
Fulvestrant (13) | |||||||
Local | ER 0 | WT | Tamoxifen (60) | Anastrazole (3) | ER +2 | 50 | 22 |
PR +1 | PR +3 | ||||||
Local | ER +1 | WT | Tamoxifen (60) | Anastrazole (14) | ER +1 | 30 | 16 |
PR +3 | Fulvestrant (9) | ||||||
Local | ER +3 | WT | Tamoxifen (20) | Exemestane (15) | ER +3, | 80 | 31 |
PR +3, | Anastrazole (32) | Fulvestrant (28) | PR +3, | ||||
Metastatic | ER +3, | WT | NA | Tamoxifen + goserelin (14) | NA | 80 | 41 |
PR +3, | Anastrazola + goserelin (14) | ||||||
Fulvestrant (8) |
Abbreviations: ER, estrogen receptor; IDC, infiltrating ductal carcinoma; NA, not available; PR, progesterone receptor; WT, wild-type.