New findings add to prior data showing Hi-C sequencing detects clinically important lymphoma rearrangements missed or not targeted by conventional FISH
CARLSBAD, Calif.–(BUSINESS WIRE)–Arima Genomics, Inc., a cancer diagnostics company bringing DNA sequence and structure together to advance cancer therapy selection, today announced new data to be presented at the Association for Molecular Pathology (AMP) 2026 Europe Congress, taking place June 15–17, 2026, in Tallinn, Estonia.
The new findings demonstrate that Arima’s Hi-C sequencing-based approach, available clinically through the Aventa™ Lymphoma test, identified clinically relevant lymphoma rearrangements missed by high-coverage whole genome sequencing (WGS), including rearrangements involving key lymphoma-associated genes such as MYC, BCL2, BCL6, CCND1, and IRF4. The presentation builds on previously presented data showing Hi-C sequencing can overcome limitations of fluorescence in situ hybridization, or FISH, by enabling genome-wide detection of diagnostic, prognostic, and therapeutic biomarkers from FFPE lymphoma specimens.
In the WGS comparison study, 25 FFPE lymphoma specimens containing 37 clinically relevant structural variants previously identified by Hi-C sequencing and validated by orthogonal methods were analyzed using high-coverage WGS. Despite average raw sequencing coverage of 180×, with a range of 132× to 238×, many rearrangements remained undetected by two different WGS analysis pipelines. The DRAGEN™ Somatic Pipeline identified 19 of 37 rearrangements, representing just 51% recall when compared to Hi-C sequencing, while Sentieon® TNscope® showed improved but still incomplete detection, with performance particularly limited for immunoglobulin-associated rearrangements.
WGS detection was lower for rearrangements involving immunoglobulin partners than for non-immunoglobulin rearrangements. DRAGEN detected seven of 16 (44%) immunoglobulin-associated rearrangements and 12 of 21 (57%) non-immunoglobulin rearrangements, while Sentieon TNscope detected eight of 16 (50%) and 15 of 21 (71%), respectively. Key lymphoma-associated genes were also missed across both pipelines: BCL6 was missed in three of 11 cases (27%) by Sentieon and four of 11 cases (36%) by DRAGEN; MYC was missed in four of eight cases (50%) by both algorithms; and BCL2 was missed in two of six cases (33%) by both algorithms.
“Rearrangements are central to lymphoma diagnosis and classification, but they remain challenging to detect reliably with methods that were not designed to directly capture genome structure,” said Anthony Schmitt, PhD, Senior Vice President, Science, Arima Genomics. “These data show that even deep whole genome sequencing can miss a substantial fraction of clinically relevant rearrangements in FFPE lymphoma specimens. By providing a more direct view of genome structure, Hi-C sequencing enables high-resolution detection of rearrangements that are critical for accurate lymphoma workup. Together with prior data showing advantages over FISH, these findings support Hi-C as a powerful approach for comprehensive rearrangement detection in routine lymphoma biopsies.”
Arima will also present additional data demonstrating Hi-C sequencing shows superior performance to FISH. These data further support the use of Hi-C sequencing as a genome-wide approach to detect guideline-recommended and emerging cytogenomic biomarkers in lymphoma.
Presentation Details
Title: Hi-C FFPE Sequencing Outperforms High-Coverage WGS for Detection of Diagnostic Fusions and Rearrangements in Lymphoma
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Oral Presentation:
- Abstract Presentation Session 3 – Hematopathology: Wednesday, 17 June 2026, 13:00–14:00 EEST
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Poster Session 2:
- Poster Number H-04: Wednesday, 17 June 2026, 9:00–9:45 EEST
Title: Hi-C FFPE Sequencing for Detection of Fusions and Rearrangements that are Diagnostic, Prognostic, and Therapeutic Biomarkers in Lymphoma
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Poster Session 2:
- Poster Number H-10: Wednesday, 17 June 2026, 9:00–9:45 EEST
About Arima Genomics
Arima Genomics is a cancer diagnostics company redefining cancer testing by bringing DNA sequence and structure together. Built on leadership in 3D genome science and Hi-C sequencing technology, Arima develops clinical tests that reveal cancer-driving alterations conventional approaches can miss or incompletely characterize. Through its Aventa clinical testing brand, Arima offers testing for solid tumors and lymphoma from its CLIA-certified laboratory in Orlando, Florida. Learn more at www.arimagenomics.com and aventatest.com, and follow Arima on LinkedIn.
Contacts
Media Contact
Rachel Ford Hutman
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