Webinar: Advancements in Rapid NGS for Myeloid and Lymphoid Malignancies

Webinar summary

This Thermo Fisher Scientific symposia session transitions focus from solid tumors to hematologic research applications, featuring Mr. Robert Baker. The presentation centers on the implementation of rapid next-generation sequencing (NGS) for genomic characterization of myeloid and lymphoid disease models in a high-throughput molecular hematology research laboratory.

Study overview

Mr. Baker describes the evolution of molecular hematology workflows within a large-scale laboratory supporting research activities at University College London. The laboratory processes high sample volumes, including acute leukemia, myeloproliferative neoplasm (MPN), and lymphoma specimens, necessitating scalable and efficient genomic characterization approaches.

Historically, workflows relied on multiple targeted PCR assays with rapid turnaround times but limited variant coverage and significant manual input. These approaches often required sequential testing and could delay comprehensive data generation or miss relevant genomic variants.

To address these limitations, the laboratory implemented Ion Torrent Genexus System workflows using Oncomine assays for myeloid and lymphoid profiling. This enabled automated, comprehensive genomic analysis across DNA and RNA targets with optimized run configurations to support both acute and chronic research sample types.

Key findings

Rapid and comprehensive myeloid profiling

• Fully automated workflows enabled genomic characterization with turnaround times typically within 24–48 hours
• Reliable detection of key variants including FLT3 ITDs, FLT3 TKDs, rare FLT3 variants, CEBPA, KMT2A fusions, and JAK2 exon 12 variants
• Sensitivity for JAK2 V617F detection was demonstrated down to ~1% variant allele frequency
• Identification of MPN, MDS/MPN overlap, and high-risk genomic profiles was accelerated

Detection of rare and relevant variants

• Rare fusions (e.g., KMT2A, ETV6::MECOM) and uncommon variants were detected that would not be captured by legacy workflows

Improved workflow efficiency and scalability

• Transition from labor-intensive PCR testing to integrated NGS reduced iterative testing and overall laboratory burden
• Consolidation of assays supported higher throughput and improved capacity management
• Operational efficiency was achieved by optimizing sample batching across research applications

Lymphoid profiling performance

• The Ion AmpliSeq Liverpool Lymphoid Network panel enabled rapid (in as little as one day) and consistent genomic characterization
• Accurate detection of expected variants across a range of lymphoma subtypes and sample types, including peripheral blood, bone marrow, and FFPE tissue
• Demonstrated utility across both T-cell and B-cell lymphoma research applications

Emerging strategies for fusion detection

• Early results show correlation between elevated gene expression and fusion status, though further study is required

Conclusion

The integration of rapid, automated NGS workflows using Ion Torrent and Oncomine assays enables comprehensive genomic characterization of myeloid and lymphoid systems with research-relevant turnaround times.

This approach improves detection of both common and rare variants, enhances workflow efficiency, and supports scalability in high-throughput laboratory environments.

Additionally, emerging strategies leveraging gene expression data may further expand capabilities for fusion detection and molecular characterization, supporting ongoing advancements in oncology research.