Precision diagnostics in chronic lymphocytic leukemia: Past, present and future.

Area of Science:

• Hematology
• Genomics
• Oncology

Background:

• Genetic diagnostics for hematological malignancies have evolved from chromosomal banding to next-generation sequencing.
• Current chronic lymphocytic leukemia (CLL) diagnostics utilize fluorescence in situ hybridization (FISH) and targeted sequencing for risk stratification.
• These analyses inform treatment decisions, including the use of targeted therapies like BTK and BCL2 inhibitors.

Purpose of the Study:

• To present the current genomic landscape of CLL.
• To highlight recent advances in CLL diagnostics with clinical translation potential.
• To discuss state-of-the-art technologies and genomic markers for precision diagnostics in CLL.

Main Methods:

• Review of current diagnostic technologies in CLL, including FISH and targeted sequencing.
• Discussion of genomic markers with prognostic and predictive impact.
• Exploration of emerging technologies and multi-omics analysis for future CLL subclassification.

Main Results:

• Genomic analyses enable detection of clinically relevant prognostic and predictive biomarkers in CLL.
• Established genomic markers (e.g., del(11q), del(13q), del(17p), trisomy 12, IGHV, TP53) aid in risk stratification and treatment selection.
• Advances in genomic technologies are crucial for precision diagnostics and personalized medicine in CLL.

Conclusions:

• Comprehensive genomic analyses are essential for capturing all relevant genetic aberrations in CLL.
• Highly sensitive assays are needed to detect minor mutations affecting therapy response or resistance.
• Multi-omics analysis holds potential for further CLL subclassification and advancing precision medicine approaches.