Evidence map›Paper›PMID 41010038›Full record

ArticleGenes2025

Hi-C Technology Reveals Actionable Gene Fusions and Rearrangements in Diffuse Large B-Cell Lymphoma Unidentified by Conventional FISH.

Sichen Liang, Candice Ament, Melanie Klausner, Victoria Stinnett, Laura Morsberger, Jen Ghabrial, William Middlezong, Anthony D Schmitt, Alex R Hastie, Ying S Zou

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In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Sichen LiangDepartment of Obstetrics and Gynecology, Peking University People's Hospital, Beijing 100044, China.ORCID 0000-0002-0108-2322
Candice AmentDepartment of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Melanie KlausnerDepartment of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Victoria StinnettDepartment of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.ORCID 0000-0003-0317-1385
Laura MorsbergerDepartment of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Jen GhabrialDepartment of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.ORCID 0000-0002-1993-4087
William MiddlezongDepartment of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Anthony D SchmittArima Genomics, Carlsbad, CA 92011, USA.
Alex R HastieArima Genomics, Carlsbad, CA 92011, USA.ORCID 0000-0001-5829-2649
Ying S ZouDepartment of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.ORCID 0000-0003-2787-1917

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesFluorescence in situ hybridization (FISH) is a standard diagnostic tool for detecting gene fusions and rearrangements in lymphomas but is limited by incomplete genomic coverage, dependence on predefined probes, and difficulty identifying atypical or noncanonical fusion partners. These constraints often result in inconclusive diagnoses in complex lymphoma cases. This study evaluates a novel Hi-C-based sequencing assay from formalin-fixed paraffin-embedded (FFPE) samples to detect clinically significant gene fusions and rearrangements in cases where conventional FISH was inconclusive or expected biomarkers were not detected.

methodsFive diffuse large B-cell lymphoma cases with previously atypical gene fusions or rearrangements by FISH were analyzed using both standard FISH and a Hi-C-based lymphoma assay. Standard FISH was performed using break-apart probes targeting

resultsIn this series of five lymphoma cases, Hi-C detected additional structural variants beyond those identified by FISH. It identified typical and atypical translocation partners of key oncogenes (

conclusionsThe Hi-C-based lymphoma assay offers a transformative diagnostic tool, overcoming FISH limitations by providing unbiased, high-resolution detection of structural variations. This approach enhances diagnostic accuracy and supports personalized therapeutic strategies in lymphoma management, warranting further validation for clinical adoption.

Indexed as

Gene FusionGene RearrangementIn Situ Hybridization, FluorescenceLymphoma, Large B-Cell, DiffuseOncogene Proteins, FusionAgedFemaleHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedOncogene Proteins, Fusion3D genomicsDLBCLFISHgene fusionsgene rearrangementsHi-Clymphoma

Identifiers

PMID41010038
PMCPMC12469463

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.