Researchers at Dana-Farber Cancer Institute have developed a humor trial that could toggle shape nan test and monitoring of aggregate myeloma (MM) and its precursor conditions. The caller method, known arsenic SWIFT-seq, utilizes single-cell sequencing to floor plan circulating tumor cells (CTCs) successful nan blood, offering a non-invasive replacement to accepted bony marrow biopsies.
The study was published in Nature Cancer.
"A batch of activity has gone into nan recognition of genomic and transcriptomic features that foretell worse result successful MM, but we are still lacking nan tests to measurement them successful our patients, said elder author, Dr. Irene M. Ghobrial. "As a clinician, this is nan type of next-generation trial that I would want to bid for my patients."
Multiple myeloma is simply a challenging bony marrow cancer, often preceded by conditions specified arsenic Monoclonal Gammopathy of Undetermined Significance (MGUS) and Smoldering Multiple Myeloma (SMM). Traditionally, bony marrow biopsies person been utilized to measure consequence and show familial changes successful these conditions. However, these biopsies are painful, infrequent, and nan accompanying technique, Fluorescence successful situ hybridization (FISH), often fails to supply clear results, starring to little effective consequence appraisal and influencing curen decisions.
"It would beryllium astonishing if we had a blood-based trial that tin outperform FISH and that useful successful nan mostly of patients – we deliberation SWIFT-seq whitethorn conscionable beryllium that test," said Dr. Romanos Sklavenitis-Pistofidis, co-first author.
SWIFT-seq offers an innovative replacement by allowing doctors to execute consequence assessments and familial monitoring utilizing a elemental humor test, making nan process overmuch easier and much reliable. Beyond counting CTCs, SWIFT-seq provides a elaborate familial profile, identifying cardinal familial changes important for knowing nan disease. This method surpasses nan accuracy of bony marrow tests for illustration FISH. Additionally, SWIFT-seq evaluates tumor maturation rates and identifies important cistron patterns that tin foretell diligent outcomes, each from a azygous humor sample.
"SWIFT-seq is simply a powerful action arsenic it tin measurement nan number of CTCs, qualify nan genomic alterations of nan tumor, estimate nan tumor's proliferative capacity and measurement prognostically useful cistron signatures successful a azygous trial and from a humor sample," said Ghobrial.
The study progressive 101 patients and patient donors, demonstrating that SWIFT-seq successfully captured CTCs successful 90% of patients pinch MGUS, SMM, and MM. Notably, it identified CTCs successful 95% of patients pinch SMM and 94% of patients pinch recently diagnosed MM, nan groups astir apt to use from improved consequence stratification and genomic surveillance. SWIFT-seq's expertise to enumerate CTCs based connected nan tumor's molecular barcode, alternatively than relying connected compartment aboveground markers, sets it isolated from existing methods for illustration travel cytometry.
SWIFT-seq not only measures aggregate clinically applicable features straight from a humor sample but besides provides caller insights into nan biology of tumor compartment circulation.
We identified a cistron signature that we judge captures nan tumor's circulatory capacity and whitethorn partially explicate immoderate of nan unexplained mysteries of myeloma biology. This tin person a tremendous effect successful really we deliberation astir curtailing tumor dispersed successful patients pinch myeloma and could lead to nan improvement of caller narcotics for patients."
Dr. Elizabeth D. Lightbody, co-first author
The preamble of SWIFT-seq marks a important advancement successful myeloma diagnostics, offering a minimally invasive method to get aggregate layers of clinically useful accusation from a azygous humor test. This breakthrough could lead to improved diligent outcomes and a deeper knowing of myeloma biology.
Source:
Journal reference:
Lightbody, E. D., et al. (2025) SWIFT-seq enables broad single-cell transcriptomic profiling of circulating tumor cells successful aggregate myeloma and its precursors. Nature Cancer. doi.org/10.1038/s43018-025-01006-0.