New Tool Detects Breast Cancer Relapses Five Years in Advance

Relapse detection in patients with solid tumors—particularly hormone receptor-positive (HR+) breast cancer—remains a major clinical challenge, as many patients initially respond well to treatment but later relapse without early warning signs. Traditional diagnostic methods often fail to detect these relapses in time due to limited sensitivity. Now, a new blood-based tool offers a minimally invasive solution that can identify signs of relapse months—sometimes years—before symptoms become clinically detectable.

The innovation, by Altum Sequencing (Madrid, Spain), a start-up supported by the C3N-IA Science Park at Universidad Carlos III de Madrid (UC3M, Getafe, Spain), aims to transform post-treatment follow-up in solid tumors by leveraging advanced sequencing technologies. At the tool's core is the use of next-generation sequencing (NGS) to analyze circulating tumor DNA (ctDNA)—small fragments of tumor-derived DNA found in the blood. The process starts with an initial biopsy to identify patient-specific mutations. Subsequent blood tests monitor for these specific mutations, allowing the detection of even one tumor cell among a million healthy ones. By concentrating only on mutations relevant to each patient, the approach enhances precision while reducing costs and the likelihood of false positives. The study, published in Breast Cancer Research, showed that the technology could detect clinical relapses in HR+ breast cancer patients up to 68 months before conventional diagnostic methods would typically identify them.

Image: NGS can detect one tumor cell among a million healthy cells from a simple blood sample (Photo courtesy of Shutterstock)

Given that up to 40% of patients with this subtype of breast cancer eventually relapse, this early detection window could dramatically alter patient outcomes by initiating timely intervention. The solution is not only personalized and highly sensitive but also broadly applicable across various types of solid tumors, thanks to its adaptable methodology. Its minimally invasive nature makes it ideal for regular monitoring, avoiding unnecessary treatments, and enhancing patient comfort. Altum is currently pursuing regulatory approvals in both Europe and the United States, aiming to bring this technology to hospitals worldwide. Looking ahead, the company is also planning to integrate generative artificial intelligence into its platform. Having already implemented machine learning algorithms to enhance diagnostics, Altum now seeks to further boost diagnostic accuracy, treatment customization, and delivery of actionable patient information through the use of AI.

"We started with hematological cancers such as multiple myeloma and acute myeloid leukemia, but we are already seeing good results in lung cancers as well, so our goal is to transform cancer monitoring," said Marina Planas, CEO of Altum Sequencing. “Today, we can detect one cell in a million. In the future, it will be one in ten million.”

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