Affiliations: [a] Department of Breast and Endocrine Surgery, Graduate School of Medical Science, Kumamoto University, Kumamoto 860-8556, Japan | [b] Department of Molecular-Targeting Therapy for Breast Cancer, Kumamoto University Hospital, Kumamoto 860-8556, Japan
Correspondence:
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Corresponding author: Hirotaka Iwase, Department of Breast and Endocrine Surgery, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan. Tel.: +81 96 373 5521; Fax: +81 96 373 5525; E-mail: [email protected].
Abstract: PURPOSE: Plasma and serum cell-free DNA (cfDNA) are useful sources of tumor DNA, but comparative investigations of the tumor mutational status between them are rare. METHODS: we performed droplet digital PCR assay for representative hotspot mutations in metastatic breast cancer (MBC) (ESR1 and PIK3CA) in serum and plasma cfDNA concurrently extracted from the blood of 33 estrogen receptor-positive MBC patients. RESULTS:ESR1 mutations in plasma cfDNA were found in 7 of the 33 patients; ESR1 mutations in serum cfDNA were detected in only one out of 7 patients with ESR1 mutations in plasma cfDNA. PIK3CA exon 9 and exon 20 mutations in plasma cfDNA were found in 3 and 7 out of the 33 patients, respectively; PIK3CA exon 9 mutations in serum cfDNA were detected in 2 out of 3 patients with PIK3CA exon 9 mutations in plasma cfDNA; PIK3CA exon 20 mutations in serum cfDNA were detected in 2 out of 7 patients with PIK3CA exon 20 mutations in plasma cfDNA. CONCLUSIONS: Here we show the higher frequency of ESR1 and PIK3CA mutations in the plasma than in the serum in 33 MBC patients; therefore, serum samples should not be considered the preferred source of cfDNA.
Keywords: Metastatic breast cancer, serum cell-free DNA, plasma cell-free DNA, ESR1 mutation, PIK3CA mutation, digital PCR
