Shenzhen, China and San Diego, USA – December 17, 2025 – SeekIn Inc., a global leader in blood‑based cancer diagnostics, today announced the publication of a new study in Blood Advances titled “Genome-wide copy number profiling enhances risk stratification in multiple myeloma by shallow whole-genome sequencing.” The study highlights the clinical utility of LeukoPrint®, SeekIn’s CE‑IVD–marked shallow whole‑genome sequencing (sWGS) assay, for comprehensive copy number aberration (CNA) profiling in multiple myeloma patients. The publication can be found at https://doi.org/10.1182/bloodadvances.2025018133.
In this multicenter study, LeukoPrint was applied to bone marrow samples from 423 multiple myeloma patients enrolled at three hospitals in China between March 2022 and February 2025. Using ∼1× coverage sWGS on plasma cell–enriched bone marrow, the assay detected 2,489 CNAs in 291 patients, with a median of 8.6 events per patient, including 1,031 whole‑chromosome and 1,458 subchromosomal abnormalities. The cohort included newly diagnosed and treated patients and was risk‑stratified according to the latest Mayo Stratification of Myeloma and Risk‑Adapted Therapy (mSMART 4.0) criteria.
When directly compared with conventional karyotyping in a subset of 278 patients, LeukoPrint identified CNAs in 75.2% of cases versus 11.2% with karyotyping, and detected CNAs in 73.3% of patients who had a normal karyotype, thereby revealing clinically relevant abnormalities that standard cytogenetics missed. Among patients with failed karyotyping due to culture issues, LeukoPrint still produced actionable CNA profiles, underscoring its robustness in routine practice.
The study also evaluated concordance between LeukoPrint and fluorescence in situ hybridization (FISH) for four key prognostic lesions, amp1q, del1p, del13q, and del17p, and showed an overall concordance of 94.0% (κ = 0.835), with lesion‑specific concordance rates up to 98.8% for del17p. These data support LeukoPrint as a reliable genome‑wide CNA platform that can complement, and in many cases replace, conventional karyotyping in multiple myeloma.
By integrating LeukoPrint‑derived CNA profiles with FISH results for immunoglobulin heavy chain (IGH) translocations within the mSMART framework, the authors proposed a revised cytogenetic workflow that substitutes karyotyping with LeukoPrint. Using this combined LeukoPrint+FISH approach, 32 patients (11.5%) who had been classified as standard‑risk by karyotyping+FISH were reclassified as high‑risk due to additional high‑risk CNAs identified only by LeukoPrint, such as amp1q, del1p, or del17p. This refined stratification has direct implications for treatment selection, by flagging patients who may benefit from intensified or risk‑adapted therapeutic strategies.
Genome‑wide profiling with LeukoPrint further delineated distinct CNA landscapes between hyperdiploid and non‑hyperdiploid myeloma, including recurrent trisomies of odd‑numbered chromosomes and subtype‑specific focal alterations involving loci such as MECOM (3q26), MAF (16q23), ARID1B (6q25), ABL1/NOTCH1 (9q34), and MAP2K1/MAP2K2 (15q23/19p13). These findings provide insights into biological heterogeneity and may inform future development of precision therapies in multiple myeloma.
“This publication in Blood Advances adds strong clinical evidence that LeukoPrint can substantially improve cytogenetic profiling and risk assessment in multiple myeloma,” said Mao Mao, MD, PhD, senior author of the study and Founder & CEO at SeekIn Inc. “By revealing high‑risk copy number aberrations that are frequently missed by conventional karyotyping, LeukoPrint enables more accurate mSMART‑based stratification and could help clinicians tailor treatment intensity more effectively for their patients.”
LeukoPrint is a clinically optimized sWGS platform designed specifically for hematologic malignancies, previously shown to have high concordance with standard cytogenetic methods and to enhance diagnostic yield in acute myeloid leukemia and myelodysplastic syndromes. It received CE‑IVD marking in April 2022 and is currently being evaluated in a prospective multicenter trial (ChiCTR2300077768) to further validate its utility in real‑world multiple myeloma management.