Chronic Lymphocytic Leukemia: Current Knowledge and Future Advances in Cytogenomic Testing Chronic Lymphocytic Leukemia

ABSTRACT

Chronic lymphocytic leukemia (CLL) is the most common leukemia in Western countries. CLL remains incurable despite improvements in clinical outcomes from the identification of prognostic markers and the introduction of targeted therapies. Recent studies have identified differences in the epigenetic and the regulatory landscape of CLL that may provide molecular targets for future therapies. Optical genome mapping (OGM) is a new method that may improve clinical testing and CLL patient care because it can provide greater sensitivity and resolution of structural variation (SV) that is currently detected by chromosome banding analysis (CBA). The practical issues around diagnosis, molecular cytogenetic prognostic markers, pathobiology, and targeted therapies are discussed with brief reference to OGM.