New findings reinforce the clinical value of Aventa Lymphoma test for detecting diagnostically and therapeutically relevant genomic rearrangements in routine pathology samples.
Arima Genomics, Inc., a precision oncology company harnessing whole-genome sequence and structural information to advance cancer therapy selection, has announced the publication of a new research study that further validates the scientific foundation behind its Aventa™ Lymphoma test. The study, conducted by collaborators at the University of Michigan and New York University, was published on February 20 in the peer-reviewed journal Cell Genomics. The findings provide additional clinical evidence supporting the use of Aventa Lymphoma for identifying diagnostically and therapeutically relevant gene rearrangements from routine formalin-fixed, paraffin-embedded (FFPE) pathology specimens.
Expanding the Power of Whole-Genome Rearrangement Detection
Lymphoid malignancies—including large B-cell lymphomas, plasma cell neoplasms, and other diverse lymphoid cancers—are frequently driven by structural genomic alterations such as gene rearrangements and fusions. Accurate detection of these rearrangements is critical for diagnosis, subtype classification, prognostic assessment, and therapy selection. However, conventional diagnostic techniques have historically been limited in scope.
The newly published study applied the FFPE-compatible Hi-C sequencing technology that underpins Aventa Lymphoma to 44 archival FFPE biopsy samples spanning multiple lymphoid malignancies. Importantly, FFPE specimens represent the most common form of preserved tissue in routine clinical pathology, yet they often present technical challenges for genomic analysis due to DNA fragmentation and chemical modifications introduced during fixation.
Despite these challenges, the investigators demonstrated that Hi-C sequencing could robustly analyze these archival samples, delivering highly concordant results compared to standard diagnostic methods. In addition to confirming known rearrangements previously identified by conventional testing, the researchers also uncovered additional clinically relevant genomic alterations that had not been detected during prior routine workups.
Overcoming the Limitations of Conventional Methods
The current standard approach for detecting gene rearrangements in lymphoid cancers is fluorescence in situ hybridization (FISH). While FISH has long served as a valuable diagnostic tool, it is inherently targeted and typically evaluates the rearrangement status of only one gene per assay. As a result, multiple tests may be required to screen for different potential rearrangements, increasing time, cost, and tissue consumption.
Moreover, FISH testing relies on clinicians or pathologists having a priori knowledge of which genes to interrogate. If a rearrangement involves an unexpected gene partner or an uncommon structural configuration, it may go undetected.
In contrast, Arima’s Hi-C–based approach offers a whole-genome view of chromosomal architecture and structural variation within a single assay. Rather than focusing on one gene at a time, this technology maps genome-wide chromatin interactions, enabling the identification of known and novel rearrangements across hundreds of genes simultaneously. By surveying the entire genome, the method can reveal complex or cryptic structural alterations that may have diagnostic or therapeutic implications but would otherwise remain hidden using conventional techniques.
Anthony Schmitt, PhD, Senior Vice President of Science at Arima Genomics, emphasized the significance of the findings. He noted that the study adds to a growing body of evidence demonstrating how a whole-genome approach enabled by Hi-C sequencing can address the limitations of conventional rearrangement detection methods. According to Dr. Schmitt, the results reinforce the ability of Aventa Lymphoma to deliver clinically meaningful rearrangement insights from standard FFPE specimens—an essential requirement for real-world clinical adoption.
Advancing Diagnostic Precision in Lymphoid Cancers
Lymphoid malignancies are biologically heterogeneous, with disease classification and risk stratification increasingly guided by molecular features. Structural rearrangements involving oncogenes, immunoglobulin loci, and other regulatory elements can drive tumorigenesis and influence treatment decisions.
By providing a comprehensive structural genomic profile, Aventa Lymphoma supports more precise disease classification. The test reports on 417 genes associated with clinically relevant rearrangements in B- and T-cell lymphomas, offering an expansive view of potential genomic drivers. This breadth of coverage enables clinicians to refine subtype determination, improve risk assessment, and tailor therapeutic strategies to the individual patient.
The study’s demonstration of high concordance with standard diagnostic methods provides reassurance regarding analytical validity. Equally important, the identification of additional rearrangements not previously detected suggests that whole-genome structural profiling may enhance diagnostic yield beyond what is achievable with targeted assays alone.
Enabling Deeper Biological Insights
Beyond its diagnostic utility, the research also highlights the broader scientific value of Hi-C sequencing. Unlike traditional rearrangement assays that simply confirm the presence or absence of a structural change, Hi-C captures three-dimensional genome organization and long-range chromatin interactions. This capability allows researchers to explore how rearrangements alter gene regulation and genomic architecture.
Such insights are particularly important in lymphoid cancers, where enhancer hijacking and dysregulated gene expression driven by structural alterations can play a central role in disease biology. By revealing long-range gene regulatory mechanisms, Hi-C data provide biological context that is typically inaccessible through standard rearrangement detection techniques.
This additional layer of information not only deepens understanding of lymphoma pathogenesis but also opens avenues for future translational research. Comprehensive genome structure data may ultimately inform the development of novel therapeutic targets or improve biomarker discovery.
About Aventa Lymphoma
Aventa Lymphoma is described as the first whole-genome, next-generation sequencing (NGS)–based clinical test specifically designed for gene fusion and rearrangement detection in B- and T-cell lymphomas. Built on Arima’s proprietary Hi-C sequencing platform, the assay is optimized for use with routine FFPE specimens, ensuring compatibility with standard pathology workflows.
By analyzing structural alterations across 417 genes in a single assay, Aventa Lymphoma consolidates what would traditionally require multiple targeted tests. The result is a streamlined, comprehensive genomic assessment that can support precise diagnosis, subtype classification, patient risk profiling, and therapy selection—even when sample input is limited.
As precision oncology continues to evolve, the need for comprehensive, efficient, and clinically actionable genomic testing solutions is becoming increasingly clear. The publication of this collaborative study in Cell Genomics represents another milestone for Arima Genomics and its Aventa Lymphoma platform. By demonstrating robust performance in real-world archival FFPE specimens and highlighting the added value of whole-genome structural insights, the findings strengthen the case for broader adoption of genome-wide rearrangement detection in lymphoid malignancies.
Collectively, the study underscores a shift in cancer diagnostics—from narrowly targeted assays toward integrated, whole-genome approaches capable of capturing the full complexity of tumor biology. For clinicians managing patients with lymphoid cancers, such advances hold the promise of more informed decision-making and improved patient outcomes.
