Publication Date:
2015-12-03
Description:
The diagnostic category of AML includes a very heterogeneous group of neoplasms but progress has been made in recent years to identify biologically and clinically relevant genomic biomarkers that aid in further sub classification, provide more accurate prognostic information and supply targets for tumor-specific therapy and monitoring of residual disease. At this time, clinically relevant biomarkers include single nucleotide variants (SNVs), small insertions and deletions (indels) and a variety of translocations. They involve many different genes, including CEBPA, which is a highly G/C nucleotide-rich gene that is extremely difficult to evaluate using standard NGS methods. Because of the number and complexity of biomarkers, it has been a challenge for clinical laboratories to provide testing that is of practical clinical use; most approaches require multiple testing modalities, including less than satisfactory commercial sequencing panels, resulting in poor clinical testing service with respect to biomarker coverage, turn-around time and cost. We have developed an integrated "laboratory-developed" NGS-based approach that evaluates all current, clinically relevant AML biomarkers simultaneously (including CEBPA and identity markers for post-transplant chimerism evaluation), in as little as 2.5 days (
Print ISSN:
0006-4971
Electronic ISSN:
1528-0020
Topics:
Biology
,
Medicine
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