Undetectable tumor cell-free DNA in a patient with metastatic breast cancer with complete response and long-term remission

Natasha Hunter, Sarah Croessmann, Karen Cravero, Daniel Shinn, Paula J. Hurley, Ben Ho Park

Research output: Contribution to journalArticlepeer-review

Abstract

The ability to serially monitor tumor-derived cell-free DNA (cfDNA) brings with it the potential to measure response to anticancer therapies and detect minimal residual disease (MRD). This report describes a patient with HER2-positive metastatic breast cancer with an exceptional response to trastuzumab and nab-paclitaxel who remains in complete remission several years after cessation of therapy. Next-generation sequencing of the patient’s primary tumor tissue showed several mutations, including an oncogenic hotspot PIK3CA mutation. A sample of cfDNA was collected 6 years after her last therapy and then analyzed for mutant PIK3CA using digital PCR. No detectable mutations associated with the primary tumor were found despite assaying .10,000 genome equivalents, suggesting that the patient had achieved a molecular remission. Results of this case study suggest that serial monitoring of MRD using liquid biopsies could provide a useful method for individualizing treatment plans for patients with metastatic disease with extreme responses to therapy. However, large-scale clinical studies are needed to validate and implement these techniques for patient care.

Original languageEnglish (US)
Pages (from-to)375-379
Number of pages5
JournalJNCCN Journal of the National Comprehensive Cancer Network
Volume18
Issue number4
DOIs
StatePublished - Apr 2020

ASJC Scopus subject areas

  • Oncology

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