Fusion genes play a critical role in the development of various cancers, including myeloid neoplasms such as acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). Understanding how these genetic mergers form and, most importantly, how we can detect them, is essential to improving the accuracy of the diagnosis and finding the right treatment strategies.
This is where an RNA fusion panel comes into play. By detecting RNA level fusion events, especially those involving low-abundance transcripts, RNA panels help provide information on genetic changes behind myeloid cancers. The Myeloid Profiler RNA Panel by Uncoded was built to facilitate detection faster and more accurately.
Why Are Fusion Genes Important in Myeloid Cancers?
Gene fusions happen when two separate genes come together due to chromosomal rearrangements. These altered genes can boost cancer growth. In the case of AML and MDS, many of these mergers are well studied and directly influence prognosis and treatment decisions.
Fusion genes such as RUNX1-RUNX1T1, BCR-ABL1, and KMT2A rearrangements are commonly found in myeloid neoplasms. Some of them even act as targets for specific therapies, making their early detection even more important.
What Makes This Panel Different from Others?
While several panels exist for gene fusion NGS, the Uncoded Myeloid Profiler RNA Panel stands out for a few reasons:
- Sensitivity: Detects fusion variants at allele frequencies as low as 2%
- Coverage: Targets 52 fusion genes and over 600 variants
- Compatibility: Works with as little as 100 ng of total RNA
- Speed: Optimized for faster NGS turnaround
It bridges the gap between research needs and clinical applications, making it a versatile tool for labs of all sizes.
Which Fusion Genes Can This Panel Detect?
The panel targets a wide array of fusion genes commonly associated with AML and MDS. Some of the key genes include:
- RUNX1, KMT2A, BCR, ABL1, PML, RARA, CBFB, and many more
- Over 600 known fusion variants are included in the panel’s detection range
This broad coverage helps clinicians and researchers avoid false negatives and ensures more comprehensive testing.
How Accurate and Sensitive Is the Detection?
One of the biggest challenges in detecting gene fusion events is sensitivity. Fusion transcripts may be present in very low amounts, especially in early or residual diseases.
With a detection threshold of only 2% variant allele frequency, the Myeloid Profiler RNA Panel is designed for high sensitivity without compromising specificity. This makes it especially useful for:
- Detecting rare fusions
- Monitoring Minimum Residual Disease (MRD)
- Call of high confidence variant
Is It Compatible with FFPE and Low-Quality Samples?
Yes. One of the most practical benefits of the panel is its compatibility with:
- FFPE (Formalin-Fixed, Paraffin-Embedded) tissues
- Low-input total RNA (starting from 100 ng)
In real-world clinical settings, especially when sample quality varies, this compatibility ensures that labs don’t have to turn away difficult or degraded samples.
What Is the Typical Workflow for the Panel?
The workflow has been optimized to reduce turnaround time and technical barriers. Here’s how it works:
- RNA Extraction from the sample
- Library Preparation with an Optimized Protocol
- Target Enrichment focusing on fusion gene regions
- NGS Sequencing on compatible platforms
- Data Analysis using dedicated bioinformatics pipelines
It’s a smooth and reliable process that integrates well into most molecular diagnostic labs.
What Are the Use Cases in Clinical Research?
The Myeloid Profiler RNA Panel isn’t limited to diagnostics. It supports a wide range of research needs:
- Translational Research: Understanding how fusions contribute to disease mechanisms
- Biomarker Discovery: Identifying potential targets for future drugs
- Drug Response Studies: Exploring how gene fusions affect treatment outcomes
It’s a versatile tool for researchers who want to move quickly from discovery to validation.
Are There Any Case Studies or Real-World Results?
In recent pilot studies, researchers used the panel to successfully detect known and rare mergers in LBC patients. In one case, he helped discover a novel fusion involving KMT2A, which was previously lost by DNA-based tests.
These types of real-world results highlight how useful the panel is to increase detection rates and support precision oncology.
What Do Oncologists and Pathologists Say About It?
Feedback from users has been encouraging. Many clinicians appreciate:
- The panel’s speed and ease of use
- High-confidence detection in complex samples
- The ability to use small amounts of starting material
For pathologists working in high-throughput environments, the streamlined nature of the panel reduces lab burden and helps improve reporting efficiency.
How Does It Compare to Other Fusion Panels Like EntroGen or Illumina?
Unlike other panels, which may focus on a narrower set of fusion events, the Myeloid Profiler RNA Panel offers:
- Broader coverage of myeloid-specific fusions
- Lower input requirements
- Faster and more reliable results
This makes it ideal for laboratories that require consistent and reproducible results in a diversified population of patients.
Where Can I Download the Full Product Brochure or Protocol?
For detailed product specifications, workflow orientation and bioinformatic support documents, visit the unmanaged site or contact the support team directly. A full protocol is available in PDF format for easy reference.
What Are the Tools for Fusion Detection?
The Uncoded Myeloid Profiler RNA Panel uses advanced bioinformatics tools to analyze sequencing reads and detect fusion transcripts. These include:
- Alignment and fusion junction analysis software
- Annotation pipelines for known and novel events
- Automated reporting templates for clinical documentation
These tools ensure that the output isn’t just accurate, but also actionable.
What Are the Methods to Detect RNA?
There are multiple ways to detect RNA and fusion transcripts, including:
- RT-PCR: Good for single targets but limited in scope
- FISH (Fluorescence In Situ Hybridization): Often used but less comprehensive
- NGS-based methods: Like the Myeloid Profiler RNA Panel, which offers broad, sensitive detection
This method stands out due to its scalability, depth, and ability to handle low-quality RNA inputs.
Conclusion:
Genetic fusions are crucial drivers in myeloid cancers. Its timely and accurate detection can improve diagnosis and guide treatment strategies. With the Myeloid Profiler RNA Panel, Uncoded offers a reliable and high-performance solution adapted to the needs of researchers and doctors.
This RNA fusion panel is built for real-world laboratories that deal with variable sample types, work under tight deadlines and still wish to exceed the limits of precision oncology. Whether for research or diagnosis, this tool can significantly increase the way we address gene fusion detection in myeloid neoplasms.
FAQs :
1. What is an RNA fusion?
A: It’s a hybrid RNA formed when two different genes join together due to chromosomal changes.
2. Can NGS detect gene fusions?
A: Yes, especially when using targeted RNA sequencing, NGS is highly effective at detecting known and novel fusion events.
3. Is this method useful for both research and clinical purposes?
A: Absolutely. The panel supports translational research and has strong potential for diagnostic workflows.
4. How much RNA is needed?
A: As little as 100 ng of total RNA is sufficient.
5. What platforms is it compatible with?
A: It works with most major NGS platforms and bioinformatics pipelines.
