The BCR::ABL1 fusion gene plays a key role in the pathogenesis of several blood cancers, particularly chronic myeloid leukemia (CML). This gene results from a chromosomal translocation that causes constitutive activation of the ABL1 tyrosine kinase domain, triggering unchecked cell growth. Testing for the BCR::ABL1 fusion gene is crucial in managing leukemia, as it helps identify patients with Philadelphia chromosome-positive leukemia who might benefit from targeted therapies such as tyrosine kinase inhibitors (TKIs). While Sanger sequencing has been the standard method for this analysis, it has its limitations in sensitivity. Next-generation sequencing (NGS) offers a more comprehensive approach to detecting, quantifying, and analyzing the genetic alterations associated with leukemia, including minor BCR::ABL1 transcripts and mutations. NGS thus provides detailed insights into disease progression, treatment response, and potential resistance mutations, enabling personalized treatment plans.

BioVendor MDx (Brno, Czech Republic) has introduced the first commercial NGS assay specifically for the BCR::ABL1 fusion gene detection. The company's fastGEN BCR::ABL1 Cancer kit is designed to deliver quick, accurate, and high-throughput results, empowering clinicians with the data needed for personalized patient management. This amplicon-based NGS solution features an efficient and user-friendly workflow. It is supported by the GENOVESA bioinformatics software, an advanced tool for analyzing NGS data. GENOVESA's intuitive interface makes it accessible for various NGS platforms, enhancing its utility beyond the fastGEN system. The fastGEN BCR::ABL1 Cancer kit is part of BioVendor MDx’s comprehensive fastGEN portfolio, which also includes kits for TP53 mutations and brain cancer markers (IDH1 and IDH2 genes), offering a broad spectrum of genetic screening and monitoring tools for different types of leukemia.

Source:
https://www.labmedica.com/molecular-diagnostics/articles/294801066/first-of-its-kind-ngs-assay-for-precise-detection-of-bcrabl1-fusion-gene-to-enable-personalized-leukemia-treatment.html