Mutation analysis using cell-free DNA for endocrine therapy in patients with HR+ metastatic breast cancer

Abstract We prospectively evaluated the utility of ESR1 and PIK3CA mutation analysis with cell-free DNA (cfDNA) using droplet digital PCR (ddPCR) for the efficacy of endocrine therapy (ET) in hormone receptive positive (HR+) metastatic breast cancer (MBC) patients. CfDNA was analyzed just before the...

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Autores principales:	Sung Hoon Sim, Han Na Yang, Su Yeon Jeon, Keun Seok Lee, In Hae Park
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/f8a712deeda54440806a3089f6dc5920
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spelling	oai:doaj.org-article:f8a712deeda54440806a3089f6dc59202021-12-02T15:53:00ZMutation analysis using cell-free DNA for endocrine therapy in patients with HR+ metastatic breast cancer10.1038/s41598-021-84999-92045-2322https://doaj.org/article/f8a712deeda54440806a3089f6dc59202021-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-84999-9https://doaj.org/toc/2045-2322Abstract We prospectively evaluated the utility of ESR1 and PIK3CA mutation analysis with cell-free DNA (cfDNA) using droplet digital PCR (ddPCR) for the efficacy of endocrine therapy (ET) in hormone receptive positive (HR+) metastatic breast cancer (MBC) patients. CfDNA was analyzed just before the start of ET for MBC. E380Q, Y537N, Y537S, and D538G were assessed for ESR1 mutations and H1047R, E545K, and E542K were assessed for PIK3CA mutations. A total of 75 patients were enrolled. Of those, 31 (41.3%) received letrozole with palbociclib, and 28 (37.3%) received exemestane and everolimus (EverX). ESR1 mutations were found in 36 (48.0%) patients, of which 16 (21.3%) had more than one variant. Seventeen (23.6%) patients had one PIK3CA mutation and 8 (11.1%) had two. In the total population, time to progression of the first ET after enrollment (TTP1) decreased significantly as the number of ESR1 mutations increased (p < 0.001). PIK3CA mutations were also significantly associated with shorter TTP1 (median TTP1: 16.2 months vs. 10.9 months, p = 0.03). In contrast, PIK3CA mutations were significantly associated with longer TTP in patients receiving EverX treatment (median TTP of EverX: 15.9 months vs. 5.2 months, p = 0.01) and remained a significant factor in multivariable analysis for TTP of EverX in this subgroup (hazard ratio = 0.2, 95% CI = 0.1– 0.8, p = 0.03). ESR1 and PIK3CA mutations in cfDNA were associated with clinical efficacies of ET in HR+ MBC patients.Sung Hoon SimHan Na YangSu Yeon JeonKeun Seok LeeIn Hae ParkNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Sung Hoon Sim Han Na Yang Su Yeon Jeon Keun Seok Lee In Hae Park Mutation analysis using cell-free DNA for endocrine therapy in patients with HR+ metastatic breast cancer
description	Abstract We prospectively evaluated the utility of ESR1 and PIK3CA mutation analysis with cell-free DNA (cfDNA) using droplet digital PCR (ddPCR) for the efficacy of endocrine therapy (ET) in hormone receptive positive (HR+) metastatic breast cancer (MBC) patients. CfDNA was analyzed just before the start of ET for MBC. E380Q, Y537N, Y537S, and D538G were assessed for ESR1 mutations and H1047R, E545K, and E542K were assessed for PIK3CA mutations. A total of 75 patients were enrolled. Of those, 31 (41.3%) received letrozole with palbociclib, and 28 (37.3%) received exemestane and everolimus (EverX). ESR1 mutations were found in 36 (48.0%) patients, of which 16 (21.3%) had more than one variant. Seventeen (23.6%) patients had one PIK3CA mutation and 8 (11.1%) had two. In the total population, time to progression of the first ET after enrollment (TTP1) decreased significantly as the number of ESR1 mutations increased (p < 0.001). PIK3CA mutations were also significantly associated with shorter TTP1 (median TTP1: 16.2 months vs. 10.9 months, p = 0.03). In contrast, PIK3CA mutations were significantly associated with longer TTP in patients receiving EverX treatment (median TTP of EverX: 15.9 months vs. 5.2 months, p = 0.01) and remained a significant factor in multivariable analysis for TTP of EverX in this subgroup (hazard ratio = 0.2, 95% CI = 0.1– 0.8, p = 0.03). ESR1 and PIK3CA mutations in cfDNA were associated with clinical efficacies of ET in HR+ MBC patients.
format	article
author	Sung Hoon Sim Han Na Yang Su Yeon Jeon Keun Seok Lee In Hae Park
author_facet	Sung Hoon Sim Han Na Yang Su Yeon Jeon Keun Seok Lee In Hae Park
author_sort	Sung Hoon Sim
title	Mutation analysis using cell-free DNA for endocrine therapy in patients with HR+ metastatic breast cancer
title_short	Mutation analysis using cell-free DNA for endocrine therapy in patients with HR+ metastatic breast cancer
title_full	Mutation analysis using cell-free DNA for endocrine therapy in patients with HR+ metastatic breast cancer
title_fullStr	Mutation analysis using cell-free DNA for endocrine therapy in patients with HR+ metastatic breast cancer
title_full_unstemmed	Mutation analysis using cell-free DNA for endocrine therapy in patients with HR+ metastatic breast cancer
title_sort	mutation analysis using cell-free dna for endocrine therapy in patients with hr+ metastatic breast cancer
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/f8a712deeda54440806a3089f6dc5920
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Mutation analysis using cell-free DNA for endocrine therapy in patients with HR+ metastatic breast cancer

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