Groundbreaking Blood Test to Transform Diagnosis and Monitoring of Multiple Myeloma

Multiple myeloma is a complex bone marrow cancer often preceded by conditions such as Monoclonal Gammopathy of Undetermined Significance (MGUS) and Smoldering Multiple Myeloma (SMM). Diagnosis and monitoring have traditionally relied on bone marrow biopsies, which are painful, infrequent, and frequently inconclusive when paired with techniques like Fluorescence in situ hybridization (FISH). Researchers have now created a non-invasive blood test that offers more accurate risk assessment and monitoring of multiple myeloma.

Scientists at Dana-Farber Cancer Institute (Boston, MA, USA) have developed SWIFT-seq, a single-cell sequencing method that profiles circulating tumor cells (CTCs) in blood samples. This approach enables comprehensive genetic monitoring and risk evaluation without the need for bone marrow extraction. Beyond counting CTCs, the test analyzes genomic alterations, tumor growth rates, and prognostic gene signatures from a single sample.

Image: The blood-based technology could replace or complement invasive biopsies (Photo courtesy of Adobe Stock)

The study, published in Nature Cancer, involved 101 patients and healthy donors. SWIFT-seq successfully captured CTCs in 90% of patients with MGUS, SMM, and MM. Notably, it identified CTCs in 95% of those with SMM and 94% of newly diagnosed MM patients. These results highlight its superior performance over existing techniques like FISH, particularly in groups most likely to benefit from enhanced genomic surveillance.

Unlike methods such as flow cytometry, SWIFT-seq identifies CTCs using a tumor’s molecular barcode rather than relying on cell surface markers. This enables a deeper understanding of tumor biology, including the discovery of gene signatures linked to a tumor’s circulatory capacity, which may influence disease spread and treatment strategies.

This blood-based technology has the potential to replace or complement invasive biopsies, offering clinicians a faster and more reliable tool for patient management. The insights it provides could guide the development of new therapies aimed at preventing tumor dissemination in myeloma.

“It would be amazing if we had a blood-based test that can outperform FISH and that works in the majority of patients – we think SWIFT-seq may just be that test,” said Dr. Romanos Sklavenitis-Pistofidis, co-first author.

Related Links:
Dana-Farber Cancer Institute