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Table 1.

Clinical and pathologic characteristics of 5 patients with infiltrating ductal carcinoma carriers of the D538G-ER mutation

Stage at diagnosisHormone receptors at primary tumorER mutation status at diagnosisAdjuvant hormonal treatments (months)Hormonal treatments for metastatic disease (months)Hormone receptors at metastasisTumor 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 diagnosisHormone receptors at primary tumorER mutation status at diagnosisAdjuvant hormonal treatments (months)Hormonal treatments for metastatic disease (months)Hormone receptors at metastasisTumor 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.

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