Circulating Tumor DNA in Breast Cancer: Diagnostic Insights From a Case Series

TL;DR

This paper explores how circulating tumor DNA can help detect breast cancer recurrence and guide treatment when tissue biopsies are not possible.

Contribution

The study highlights ctDNA's role in precision therapy decisions when biopsies are unavailable or inconclusive.

Findings

ctDNA-based MRD detection identified breast cancer recurrence in three cases.

Genomic alterations detected in ctDNA guided precision therapy decisions.

ctDNA served as a supplemental tool when tissue biopsies were unobtainable or inconclusive.

Abstract

Circulating tumor DNA (ctDNA), the tumor-derived fraction of cell-free DNA, has emerged as a valuable biomarker for monitoring treatment response, detecting minimal residual disease (MRD), and identifying early cancer recurrence. While histologic tissue diagnosis remains the gold standard for confirming malignancy, guidelines from organizations such as the National Comprehensive Cancer Network (NCCN) and the European Society for Medical Oncology (ESMO) acknowledge that ctDNA may serve as a supplemental tool in rare instances where tissue is unobtainable. In such cases, results should be interpreted alongside clinical and radiologic findings, with tissue confirmation pursued whenever possible. This case series presents three distinct breast cancer cases in which ctDNA-based MRD detection was instrumental in identifying recurrence and guiding precision therapy based on actionable genomic alterations when biopsy was not feasible or inconclusive.

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