Hi-C FFPE Sequencing for Detection of Fusions andRearrangements that are Diagnostic, Prognostic, andTherapeutic Biomarkers in Lymphoma

Reference:

Xu-Monette, et al.

AMP Europe 2026 - Tallinn, Estonia

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Abstract:

Diffuse large B-cell lymphoma (DLBCL) is the most common type of B-cell lymphoma. Fluorescence in situ hybridization (FISH) of target probes is routinely used to detect gene rearrangements for definitive diagnosis. However, FISH can only target limited biomarkers at one time. Emerging FISH biomarkers for diagnosis, subtyping, prognostication, and precision medicine pose challenges to the cost and workflow of clinical laboratories. Moreover, rearrangements cryptic to the FISH probes can be missed, affecting diagnosis and treatment. NGS is increasingly used in the clinic but is insufficient for detecting gene rearrangements.

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Hi-C Sequencing Outperforms High-Coverage WGSfor Detection of Diagnostic Fusions and Rearrangementsin FFPE Lymphoma Specimens