Comparative clinical utility of tumor genomic testing and cell-free DNA in metastatic breast cancer

Breast Cancer Research and Treatment
Kara N MaxwellAngela DeMichele

Abstract

Breast cancer metastases differ biologically from primary disease; therefore, metastatic biopsies may assist in treatment decision making. Commercial genomic testing of both tumor and circulating tumor DNA have become available clinically, but utility of these tests in breast cancer management remains unclear. Patients undergoing a clinically indicated metastatic tumor biopsy were consented to the ongoing METAMORPH registry. Tumor and blood were collected at the time of disease progression before subsequent therapy, and patients were followed for response on subsequent treatment. Tumor testing (n = 53) and concurrent cell-free DNA (n = 32) in a subset of patients was performed using CLIA-approved assays. The proportion of patients with a genomic alteration was lower in tumor than in blood (69 vs. 91%; p = 0.06). After restricting analysis to alterations covered on both platforms, 83% of tumor alterations were detected in blood, while 90% of blood alterations were detected in tumor. Mutational load specific for the panel genes was calculated for both tumor and blood. Time to progression on subsequent treatment was significantly shorter for patients whose tumors had high panel-specific mutational load (HR 0.31, 95% CI 0.12-0.78) ...Continue Reading

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Citations

Feb 22, 2018·Current Treatment Options in Oncology·Paulo G BergerotSumanta Kumar Pal
Jul 14, 2020·The Journal of Clinical Investigation·Matt R PaulLewis A Chodosh
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Dec 17, 2020·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Saya JacobMassimo Cristofanilli
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