The biomarker gene, splicing factor 3B subunit 1(SF3B1), is believed to play a critical role in the prognosis of patients with myelodysplastic syndromes (MDS), a group of hematological cancers in which bone marrow does not produce enough healthy blood cells.

Mutations of this gene, which is an important component of the spliceosome machinery, indicate a more favorable disease progression for patients than the "wild-type" gene, so testing for these gene variants could potentially provide important guidance for treatment based on a personalized healthcare approach to MDS.

QIAGEN N.V. (Hilden, Germany) announced it has acquired an exclusive global license to the biomarker SF3B1 from the University of Tokyo (Japan). QIAGEN licensed the SF3B1 biomarker in an ongoing expansion of the oncohematology offering for clinical research and diagnostics. Three additional spliceosome biomarkers implicated in various blood cancers and targeting variants in the U2 Small Nuclear RNA Auxiliary Factor 1 (U2AF1,U2AF35), the zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2) and the serine/arginine-rich splicing factor 2 (SFRS2) genes are also part of the license agreement.

Those genes are included in QIAGEN's GeneRead DNAseq Leukemia V2 gene panel for next-generation sequencing (NGS), which has been launched earlier this month together with 13 other new cancer gene panels that are compatible with any NGS sequencer and customizable to include other genes or gene regions of clinical or biological interest. The GeneRead technology provides the most cost-effective and time-efficient approach for target enrichment of assay panels for NGS. The panels use as little as 10 nanograms of starting DNA material per pool, require only three hours to enrich for targets and substantially reduce the time to go from isolated DNA sample to sequencing-ready libraries. They are compatible for use with formalin-fixed, paraffin-embedded (FFPE) samples, do not require specialized instruments, and achieve industry leading coverage of greater than 96% of coding regions, a specificity greater than 90% of reads on target and a greater than 90% uniformity of bases covered by at least 20% of the mean coverage depth.

Vincent Fert, MSc, QIAGEN's Personalized Healthcare Program Leader, said, “Building on a broad portfolio of molecular diagnostics for blood cancers, QIAGEN continues to partner with clinical researchers at pharmaceutical companies and academic centers to extend the benefits of personalized healthcare. Because several Pharma companies are developing potential anticancer drugs targeting the SF3B1 gene, this biomarker also holds potential for co-development as a companion diagnostic.”

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University of Tokyo