Association of preoperative and postoperative circulating tumour DNA (ctDNA) with PIK3CA gene mutation with risk of recurrence in patients with non-metastatic breast cancer

Circulating tumour DNA (ctDNA), contains tumour-specific gene mutation in blood circulation and could aid in postoperative risk stratification of non-metastatic breast cancer. In this study, we investigated the feasibility of detecting PIK3CA gene mutations in ctDNA in the preoperative (preop) and p...

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Published in:	Surgical oncology 2024-06, Vol.54, p.102060-102060, Article 102060
Main Authors:	Hassan, Fara, Wang, Jiang Huai, O'Leary, Donal Peter, Corrigan, Mark, Redmond, Henry Paul
Format:	Article
Language:	eng
Subjects:	Breast cancer Circulating tumour DNA (ctDNA) Minimum residual disease (MRD) Overall Survival (OS) PIK3CA gene mutation Postoperative period (postop) Preoperative period (preop) Recurrence Recurrence free survival (RFS
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Summary:	Circulating tumour DNA (ctDNA), contains tumour-specific gene mutation in blood circulation and could aid in postoperative risk stratification of non-metastatic breast cancer. In this study, we investigated the feasibility of detecting PIK3CA gene mutations in ctDNA in the preoperative (preop) and postoperative period (postop), and its prognostic significance in patients with breast cancer. A cohort of patients with breast cancer undergoing curative surgery with available blood samples preoperatively and postoperatively (Post op) at either Post op time period; week 1–2, week 3–4 or weeks 5–12 were enrolled. PIK3CA gene mutations at exons 9 and 20 were detected in ctDNA with High resolution melting (HRM) PCR and Allele specific fluorescence probe-based PCR. A total of 62 patients (age, median (IQR), 51.50 (45.0–65.0) years), with a median follow-up of 90 months (interquartile range (IQR),60–120 months) were enrolled. In total, 25 (40.3%) and 22 (35%) patients with breast cancer had detectable PIK3CA gene mutations in ctDNA in preoperative and postoperative period, respectively. PIK3CA gene mutations in ctDNA in postoperative period (hazard ratio (H.R: 18.05, p = 0.001) were a negative prognostic factor for recurrencefree survival (RFS) and overall survival (OS) (H.R: 11.9, p = 0.01) in patients with breast cancer. Subgroup analysis of ctDNA indicate that positive ctDNA in both preoperative/postoperative period and post op period only were found to have prognostic effect on RFS and OS (RFS; p
ISSN:	0960-7404 1879-3320