Press release

Asuragen NGS System Streamlines Detection of NSCLC-associated DNA Mutations, Gene Fusions, and RNA Expression Targets in Single Workflow

Sponsored by Businesswire

Asuragen, Inc., a molecular diagnostics company delivering easy-to-use
products for complex testing in genetics and oncology, today announced
publication of a study demonstrating a single next-generation sequencing
(NGS) workflow for the sensitive and accurate detection of DNA and RNA
variants associated with non-small cell lung cancer (NSCLC) in the
journal Translational Oncology (
The article, titled “An Integrated Next-Generation Sequencing System for
Analyzing DNA Mutations, Gene Fusions, and RNA Expression in Lung
Cancer,” describes the targeted analysis of 190 loci from low-input and
low-quality NSCLC specimens using a rapid and standardized NGS procedure
that is compatible with existing laboratory instrumentation.

Lung cancer is the leading cause of cancer-related death worldwide and
NSCLC accounts for approximately 85% of all lung cancer cases. A number
of targeted therapies for DNA and RNA variants in NSCLC are now
available, but their timely detection is complicated by segregated NGS
methods for DNA versus RNA and by limitations in biopsy tissue and
nucleic acid quality to support split workflows. To address these
challenges, the publication describes a unified DNA/RNA NGS assay that
covers hotspot mutations in 20 genes, including EGFR, KRAS,
BRAF, and PIK3CA, as well as 107 RNA fusion variants
recurrent in NSCLC, such as ALK, RET, ROS1, and NTRK1,
and MET exon 14 skipping events. RNA quantification also includes
23 transcripts with prognostic and theranostic value, such as PD-L1,
PD-L2, INFG, and CTLA4 that are important in assessing T-cell-inflamed
phenotypes and the impact of immune checkpoint inhibitor therapies.
Analysis is achieved using proprietary software to automate variant
calls from total nucleic acid, resulting in quantification of SNVs,
INDELs, CNVs, fusions, splice variants, and expression targets – all
within a single, harmonized NGS run. By querying functional input
copies, sequence quality, sample-specific error rates, local sequence
complexity, and coverage depth, the software is an essential component
of the overall system and helps ensure robust and accurate results.

In the study, over 200 formalin-fixed, paraffin-embedded (FFPE) surgical
resections and core needle biopsies provided by collaborators at MD
Anderson Cancer Center were tested. The results were consistent with
variant prevalence established by large, international consortia such as
TCGA, demonstrating mutual exclusivity between driver events and
distinct molecular subtypes for adenocarcinoma and squamous cell
carcinoma. Sequence variants in fine needle aspirate (FNA) smears from
BATTLE-2 clinical trial subjects were in 97% agreement with matched FFPE
specimens tested by the FoundationOne® NGS Assay, even though
the FNA biopsies had substantially fewer cells available for analysis.

“Our study with Asuragen demonstrates the continued evolution of NGS
methods to reliably quantify different types of cancer-associated
variants across both DNA and RNA that are relevant to precision
medicine,” commented Ignacio I. Wistuba, MD, professor and chair,
Department of Translational Molecular Pathology at The University of
Texas MD Anderson Cancer Center. “This integrated and rapid approach may
help clinicians and laboratories maximize the actionable information
they can recover from small patient biopsies, and accelerate turnaround
times for results and decision-making.”

This study was funded in part by a Cancer Prevention and Research
Institute of Texas (CPRIT) Product Development Research grant.

About Asuragen

Asuragen is a molecular diagnostic product company changing the way
patients are treated in genetics and oncology. Asuragen’s diagnostic
systems, composed of proprietary chemistry and software, deliver
powerful answers using broadly installed instrument platforms. They are
simple to adopt and expand the ability to serve patients. Asuragen is a
product foundry rapidly and efficiently addressing current and emerging
clinical needs, including cancer diagnosis and monitoring, reproductive
health and aging, serving laboratories across a patient’s lifespan with
its best in class diagnostic tests. For more information, visit