 Annual Meeting, two newly announced data presentations highlight how next-generation genomics and single-cell profiling approaches are continuing to deepen molecular characterization of hematologic malignancies.){kind=link}
As the hematology community prepares for the 67th American Society of Hematology (ASH) Annual Meeting, two newly announced data presentations highlight how next-generation genomics and single-cell profiling approaches are continuing to deepen molecular characterization of hematologic malignancies. Reports from Arima Genomics and Mission Bio demonstrate how broader structural variant profiling and integrated multi-omic analyses are uncovering biologic features that remain incompletely captured by conventional diagnostic workflows.
Arima Genomics has announced results from a retrospective study evaluating its Hi-C–based technology, now used in the clinically available Aventa Lymphoma assay, in a cohort of 159 patients with diffuse large B-cell lymphoma (DLBCL). The study represents one of the largest direct comparisons between genome-wide Hi-C sequencing and standard fluorescence in situ hybridization (FISH) testing in this disease.
This largest study to date using our technology in lymphoma confirms what we have seen both in research settings and clinically with Aventa Lymphoma: when you look genome-wide, you consistently uncover clinically important rearrangements that targeted panels miss. With Aventa Lymphoma, we aim to give pathologists and oncologists a practical tool for more confident classification, more refined risk assessment, and better alignment of patients with evolving treatment options and clinical trials.
Anthony Schmitt, PhD, Senior Vice President, Science, at Arima Genomics
Investigators reported that approximately one-quarter of cases harbored clinically relevant chromosomal rearrangements detected by Hi-C that were not identified by FISH. These included rearrangements involving canonical DLBCL biomarkers such as MYC, BCL2, and BCL6, as well as genes typically associated with alternate lymphoma subtypes including CCND1, IRF4, ALK, and MALT. Additional events affecting potentially actionable loci such as PD-L1 and ATM were also observed.
More than one-third of the clinically relevant rearrangements identified in the cohort would not have been captured using conventional FISH panels alone. The data suggest that genome-wide structural profiling may improve diagnostic classification, help refine risk stratification, and expand identification of patients who could benefit from targeted therapeutic strategies or clinical trial enrollment.
Mission Bio has reported the use of its Tapestri single-cell DNA and protein analysis platform to support exploratory biomarker studies in Myeloproliferative Neoplasms (MPNs). Data to be presented at ASH derive from clinical trial samples associated with the therapeutic candidate INCA033989, illustrating real-world application of single-cell multi-omics within an interventional research setting.
Our collaboration with Incyte highlights the role of single-cell multi-omics as an advanced clinical biomarker tool and the potential power of single-cell analysis in supporting targeted therapy development in the clinic. By unraveling the complexity of MPNs at the single-cell level, we can enhance complex biomarker analysis for targeted therapies in this space.
Brian Kim, CEO at Mission Bio
Using paired DNA mutation profiling and cell surface protein expression analysis at the single-cell level, investigators assessed clonal architecture, co-occurring mutations, and associated immunophenotypes across patient samples. This approach enabled identification of clonal expansion patterns and potential persistence of malignant populations during therapy, as well as early insights into mechanisms that may contribute to therapeutic resistance.
In contrast to bulk sequencing or flow cytometry performed in isolation, the integrated nature of the Tapestri platform allows genetic lesions and phenotypic states to be assessed simultaneously within individual cells. This high-resolution profiling provides a more detailed view of intrapatient heterogeneity and offers opportunities to define biomarker signatures that may refine patient stratification, predict response, or guide therapeutic development in complex disorders such as MPNs.