Overcoming limitations of traditional assay enables definitive diagnosis, refinement of prognosis and opportunities for optimized treatment

Arima Genomics, Inc., a company leveraging whole-genome sequence and structure information to provide comprehensive cancer therapy selection insights, today announced the publication of a study from investigators at Johns Hopkins University showing that the Aventa Lymphoma test turns ambiguous FISH (fluorescent in situ hybridization) results into clear clinical answers for patients with diffuse large B-cell lymphoma (DLBCL).

Sensitive and precise testing for gene fusions and rearrangements is essential to assure an accurate lymphoma diagnosis. FISH is a widely used, probe-based test that relies on microscopy and interrogates only a single preselected target at a time, whereas Aventa Lymphoma leverages genome-wide Hi-C sequencing to assess all relevant fusions and rearrangements simultaneously in a single assay.

The new study, published in a special issue of the peer-reviewed scientific journal Genes entitled “Cytogenetics and Cytogenomics in Clinical Diagnostics: Innovations and Applications”, focused on a series of diagnostically challenging cases with atypical FISH findings. The Aventa Lymphoma test confirmed all typical FISH results, while also unambiguously clarifying results where the FISH patterns could not be fully characterized and clinical interpretation remained unclear. Aventa Lymphoma further uncovered additional, clinically consequential rearrangements that were not targeted by FISH testing in all cases investigated --- together shifting diagnoses, refining prognoses, and pointing clinicians to targeted regimens or clinical trials.

“In DLBCL, we often confront patterns that FISH alone can’t fully explain,” said Ying Zou, M.D., Ph.D., Director of Cancer Cytogenetic Laboratory, Cytogenomic Research Core and Associate Director of Molecular Diagnostics Laboratory at Johns Hopkins University, and senior author of the study. “In this study, Aventa Lymphoma delivered the missing context from routine FFPE tissue—clarifying diagnoses and surfacing co-alterations that directly informed risk and potential treatment paths.”

The study details case narratives that show how the broader, unbiased view provided by Aventa Lymphoma provides crucial information that may alter treatment:

• In one patient with a known MYC rearrangement, the Aventa Lymphoma test identified the partner and demonstrated biology consistent with lower-grade DLBCL rather than the originally suspected high-grade B-cell lymphoma (HGBCL)—altering expectations for risk and treatment intensity.
• In two other patients, the test detected IGH-driven rearrangements that FISH missed, reclassifying one case as high-risk DLBCL and another as HGBCL.
• The test also revealed poor prognosis features—TP53 loss and a complex karyotype—that were not apparent from initial testing but could shape therapy selection and follow-up.
• Several Aventa Lymphoma patient profiles also mapped directly to clinical trial options, turning comprehensive genomic findings into potential next steps.

“Aventa Lymphoma delivers the full genomic picture in a single assay,” said Anthony Schmitt, Ph.D., Senior Vice President, Science, at Arima Genomics. “This study shows we clarified every ambiguous FISH case and uncovered hidden variants that can help clinicians gauge risk and connect patients to appropriate therapies and trials. Our goal is to make this level of clarity routine in lymphoma care.”

About Arima Genomics

Arima Genomics is redefining cancer diagnostics using whole-genome sequence and structure information. Arima’s assays enable a new era of comprehensive, clinically actionable therapy selection insights. The company serves oncologists through its CLIA-certified Aventa clinical testing laboratory in Orlando, Florida, and supports discovery-stage researchers worldwide with advanced kits and informatics. Learn more at www.arimagenomics.com and www.aventatest.com, and follow us on LinkedIn and X.

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Our goal is to make this level of clarity routine in lymphoma care.