First Published Study of OGM in Pediatric AML Shows OGM Identifies MRD Markers and other Novel Variants that Can Impact Case Management
AML is the second most frequently diagnosed blood cancer in children. It is a remarkably complex disease, characterized by a wide spectrum of genome variations including structural variants. In the peer-reviewed study, published in Cancers, researchers at University Hospital Essen analyzed samples from 24 pediatric patients with AML using OGM and traditional methods including FISH and karyotyping to determine if OGM could provide an all-in-one methodological approach to identify relevant genetic aberrations that impact AML diagnosis and stratification into groups for treatment.
In 70 percent of cases, significantly more SVs were detected using OGM than cytogenetic methods, and these SVs are believed to be highly relevant to the understanding of pathogenesis of AML. Additional findings of the study:
- 32 previously unknown aberrations discovered; 1 was a high-risk marker detected only by OGM.
- In 2 cases, OGM detected novel fusion partners of a gene known to play a role in hematopoiesis, thereby providing information on new MRD markers.
The researchers also noted that OGM’s high sensitivity has particular significance in cases where none of the previously known markers for PCR-based MRD monitoring could be identified, which is approximately 30% of pediatric AML in
“Leukemia is a disease of genomic variations where structural and sequence variations serve as drivers of this malignancy, so it makes sense that OGM is being evaluated in research applications. Pediatric AML is common but highly complex and oncologists are often left with no genetic markers to follow during treatment. OGM performed well compared to traditional methods, but the compelling value proposition is its ability to add incremental findings that have the potential to impact disease monitoring and outcomes. The detection of novel MRD markers described in this study underscores this point very strongly. Congratulations to the teams that were responsible for conducting this study,” commented
The paper is available at:
Cancers | Free Full-Text | Optical Genome Mapping as a Diagnostic Tool in Pediatric Acute Myeloid Leukemia | HTML (mdpi.com)
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This press release may contain forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things, the ability and utility of OGM and the Saphyr® system to analyze structural variations in pediatric AML or identify MRD markers. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive technologies or improvements to existing technologies; failure of future study results to support those demonstrated in the paper referenced in this press release; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the
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Source: Bionano Genomics