Case Report: Unraveling complex genomic alterations in a case of chronic lymphocytic leukemia using optical genome mapping.

ABSTRACT: Chronic lymphocytic leukemia (CLL) is one of the most prevalent adult leukemias, derived from mature B-cells and exhibiting a highly heterogeneous disease course. Standard cytogenetic analysis of CLL includes FISH and karyotyping. However, conventional chromosome analysis of cancer specimens is often constrained by low chromosomal resolution, and FISH analysis is limited by the number of probes that can be applied. This study highlights the application of optical genome mapping (OGM), a high-resolution cytogenomic tool that visualizes ultra-long, sequence-labeled DNA molecules, to uncover the structural complexity of the cancer genome and assess the clinical relevance of chromothripsis in CLL. Comprehensive cytogenetic analysis was conducted on a 43-year-old male diagnosed with chronic lym

SUBMITTER: Youssefian L 

PROVIDER: S-EPMC12440793 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature