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Genomic Profiling from Initial Assessment to Detection of Measurable Residual Disease (MRD): How NGS Can Rapidly Deliver Key Insights for Myeloid Neoplasms

In his recent webinar, Dr. Bevan Tandon makes a compelling case for how next-generation sequencing (NGS) can deliver rapid insights for myeloid neoplasm from initial assessment to detection of measurable residual disease (MRD).

Bevan Tandon, MD, Hematopathologist, Molecular Pathologist
Director, Hematopathology and Molecular Pathology, Pathline Labs
Ramsey, New Jersey

Key learning objectives:

Targeted, multi-gene NGS panels are emerging as a standard of care solution for genomic profiling in myeloid neoplasms, including myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), and acute myeloid leukemia (AML).

Highly sensitive NGS panels may inform mutation clearance or detect MRD as low as 0.05% variant allele frequency.


The drawbacks of traditional molecular testing

Dr. Tandon described the traditional hematologic testing landscape, reviewing the complexities and the challenges of integrative and iterative testing across multiple modalities (flow cytometry, morphology, classical cytogenetics, FISH, qPCR, Sanger sequencing, fragment analysis, and NGS).

Dr. Tandon suggested that NGS can shift the paradigm with one test for all key biomarkers across multiple variant types and samples. He asserted that it’s now possible to rapidly and efficiently conduct molecular profiling with high sensitivity and specificity and to detect novel variants.

However, he acknowledged that laboratories have faced many barriers to NGS adoption, including a lack of in-house expertise, the extra expense of hiring and training staff, and the need to run small batches cost-effectively and for timely results.

NGS: viable and imperative for myeloid molecular profiling today

But times have changed. Dr. Tandon used the Oncomine Myeloid Assay GX v2 and the Ion TorrentTM GenexusTM System to illustrate the significant advancements in NGS that have simplified molecular testing, making it possible for in-house labs to deliver deeper research insights at every stage—often in as little as 1 day.

Comprehensive, simultaneous target coverage of key DNA mutations and RNA fusion transcripts, integrated reporting with links to the latest evidence, and rapid turn-around time (TAT) were a few of the assay’s advantages that Dr. Tandon highlighted.

In addition, Dr. Tandon shared the results of his team’s analytical validation of Genexus. The results were impressive—98.5% accuracy and 98% precision across more than 50 specimens, with a total of 335 SNVs and indels assessed.

Pathline Genexus analytical validation

Myeloid-MRD-NGS-ValidationEnlarge Image


Case study takeaways—NGS value in molecular profiling: AML, MPN, MDS

Dr. Tandon’s presentation included several broad application research case studies of hematologic myeloid malignancies, further illustrating the advantages of NGS over traditional methods.


With NGS, many biomarkers can be profiled in a single run—streamlining laboratory workflows and delivering rapid insights for AML research into the significance of multiple low-level mutations in a single sample compared to flow cytometry and RT-PCR.


Multiplex analysis of numerous relevant genomic alterations could help streamline laboratory workflows, provide more comprehensive assessment, and reduce TATs associated with traditionally cascaded, 1-off molecular assays for MPN.

In addition, NGS may significantly improve analytic sensitivity and specificity vs traditional methodologies (Sanger Sequencing and PCR/fragment analysis). Extended mutational analysis may be necessary to inform future strategies for prognostic risk stratification in primary myelofibrosis and evaluate for high molecular risk (HMR) mutations.


The presence of >2 pathogenic mutations, each >10% variant allele frequency (VAF) is a significant, positive predictor for involvement by clonal myelodysplasia or other clonal myeloid neoplasms. As such, the use of NGS in MDS research could be considered beneficial due to its ability to identify multiple mutations in a single test, reducing the risk that something significant is missed.

MRD detection in AML

Accurate MRD detection is critical in AML research because detectable MRD, while in complete remission, may be associated with a higher disease relapse risk and shorter overall survival.

Unfortunately, morphological assessment is an insufficient determinant of relapse risk. The good news is that molecular, barcoded NGS may facilitate the tracking of specific clones and detection of the emergence of subclones as low as 0.05% VAF.

To address the MRD challenge, Dr. Tandon highlighted the strengths of the new Oncomine Myeloid MRD Assays (RUO) on the Ion TorrentTM GeneStudio and its streamlined 3-day workflow, sharing key findings from his early research data.

He concluded that the Oncomine Myeloid MRD Assays (RUO) detected known mutations with high sensitivity in triplicate analysis of commercial samples.

Seracare triplicate analysis, 2-fold dilution to NGS Myeloid MRD assay LOD

Myeloid-MRD-NGS-Triplicate analysis
Enlarge Image


Discover how NGS can rapidly deliver critical insights for myeloid molecular profiling and MRD detection. Watch the webinar or check out our webpage learn more about the Oncomine Myeloid MRD Assays (RUO).

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Thermo Fisher Scientific Staff
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