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Primary endocrine resistance of ER+ breast cancer with ESR1 mutations interrogated by droplet digital PCR

 Sung Gwe Ahn  ;  Soong June Bae  ;  Yoonjung Kim  ;  Jung Hwan Ji  ;  Chihhao Chu  ;  Dooreh Kim  ;  Janghee Lee  ;  Yoon Jin Cha  ;  Kyung-A Lee  ;  Joon Jeong 
 NPJ BREAST CANCER, Vol.8(1) : 58, 2022-05 
Journal Title
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We investigated the patterns of recurrence and primary endocrine resistance according to estrogen receptor (ER) alpha gene (ESR1) mutations, as assessed by digital droplet (dd) PCR, in patients with non-metastatic ER+ breast cancer. We collected 121 formalin-fixed paraffin-embedded (FFPE) surgical specimens from ER+ breast cancer patients who had relapsed after surgery. Genomic DNA was extracted from the FFPE samples and ESR1 mutations were evaluated using ddPCR. ESR1 mutations were detected in 9 (7.4%) of 121 primary breast cancer specimens. The median recurrence-free interval and overall survival were significantly lower in patients with ESR1 mutations than in those without. Of the patients treated with ET (N = 98), eight had ESR1 mutations. Of these, six (75.0%) had primary endocrine resistance and two (25.0%) had secondary endocrine resistance. By contrast, only 22 of 90 (24.4%) patients without ESR1 mutations had primary endocrine resistance. A multivariable model showed that an ESR1 mutation is a significant risk factor for primary endocrine resistance. Our findings provide clinical evidence that the presence of rare ESR1 mutant clones identified by ddPCR in primary tumors is associated with primary endocrine resistance in an adjuvant setting.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Chu, Chihhao(곡지호)
Kim, Yoon Jung(김윤정) ORCID logo https://orcid.org/0000-0002-4370-4265
Bae, Soong June(배숭준) ORCID logo https://orcid.org/0000-0002-0012-9694
Ahn, Sung Gwe(안성귀) ORCID logo https://orcid.org/0000-0002-8778-9686
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Jeong, Joon(정준) ORCID logo https://orcid.org/0000-0003-0397-0005
Ji, Junghwan(지정환)
Cha, Yoon Jin(차윤진) ORCID logo https://orcid.org/0000-0002-5967-4064
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