1156 Optical Genome Mapping Enhances Genomic Characterization in Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (CLL/SLL): An Institutional Experience

Document Type

Conference Proceeding

Publication Date

3-23-2026

Publication Title

Lab Invest

Keywords

adult, bone marrow, chromothripsis, chronic lymphatic leukemia, clinical article, clinical significance, conference abstract, diagnosis, drug combination, drug therapy, female, fluorescence in situ hybridization, gene mapping, heterozygosity loss, human, karyotype, karyotyping, male, molecular weight, monosomy, reliability, retrospective study, risk factor, small lymphocytic lymphoma, trisomy 12

Abstract

Disclosures: Omar Baba: None; Priti Agarwal: None; Brandon Shaw: None; Xiaolan Fang: None; Wei Liu: None; Yulei Shen: None; Elizabeth Wey: None; Juan Gomez-Gelvez: None; John Carey: None; Kedar Inamdar: None; Dhananjay Chitale: None; Sharmila Ghosh: None Background: Optical genome mapping (OGM) is a comprehensive cytogenomic technology utilizing ultra-high molecular weight DNA molecules to detect all classes of genome wide structural variants (SVs), copy number variants (CNVs), complex genomic rearrangements, and loss of heterozygosity. This study evaluates the clinical utility of OGM for genomic characterization compared to conventional cytogenetic methods in a validation cohort of Chronic Lymphocytic Leukemia/Small lymphocytic lymphoma (CLL/SLL) patients. Design: We retrospectively analyzed 10 CLL/SLL patients diagnosed from peripheral blood (n=7) and bone marrow (n=3) by OGM using Bionano Stratys platform (Bionano Genomics, San Diego, CA, USA) alongside standard cytogenetic testing including FISH CLL/SLL panel, and conventional karyotyping. OGM data were analyzed for SVs and CNVs, with systematic comparison to standard methods for concordance and novel findings (see table). Results: OGM confirmed all key CLL-associated lesions detected by standard methods including 13q deletions (8/10 cases), 17p deletions (2/10 cases), trisomy 12 (1/10 cases), monosomy 13 (1/10 cases), monosomy 17 (1/10 cases), and 11q deletions targeting ATM gene (1/10 cases). OGM detected all lesions identified by conventional FISH and karyotype, demonstrating 100% concordance. Furthermore, OGM unveiled a range of novel aberrations and complex rearrangements that were undetectable by standard methods. These findings—such as chromoanagenesis/chromothripsis events, multichromosomal fusions, and unique translocations (like t(1;14;17), t(6;16), t(12;13), t(2;5;11;10), and t(X;10))—demonstrate OGM’s ability to provide a higher resolution, revealing intricate chromosomal architectures. The clinical significance of some of these aberrations remains uncertain at this time. However, their detection highlights the added value of OGM in uncovering previously hidden genetic complexity and potential risk factors, offering a deeper understanding of CLL. [Formula presented] Conclusions: OGM showed strong concordance with FISH and karyotyping in detecting key CLL lesions, confirming its reliability for routine diagnostics. Our early experience suggests OGM can reveal additional cytogenomic insights undetected by conventional methods, deepening our understanding of CLL and supporting improved treatment strategies and outcomes.

Volume

106

Issue

3

Find It @ Sladen

Share

COinS