Advances in the understanding of the CLL genome has led to the use of genomic and molecular biomarkers such as TP53 genetic alterations and immunoglobulin heavy variable (IgHV) gene mutation status.

Below we hear from leading experts in CLL on the importance of genomic testing, and the impact of these results on diagnosis, prognosis and guiding treatment decisions.

What is the current definition of high-risk CLL?

Kostas Stamatopoulos, MD, PhD, Center for Research and Technology Hellas, Thessaloniki, Greece, explains that patients with TP53 aberration and unmutated IgHV are considered high-risk when chemoimmunotherapy is the only available treatment option, however, with the introduction of novel agents, the definition of high-risk CLL is changing.

Why is it important to perform testing in CLL?

Richard Rosenquist, MD, PhD, Karolinska Institute, Stockholm, Sweden, explains the importance of genomic tests used in CLL such as fluorescence in situ hybridization (FISH) analysis, TP53 mutation screening and testing of IgHV mutational status, and how these tests can impact treatment decision making and improve the understanding of patient outcomes.


What is the importance of re-testing in CLL? 

Richard Rosenquist, MD, PhD, Karolinska Institute, Stockholm, Sweden, discusses some of the key tests performed before treatment administration in patients with CLL and explains that in cases of relapse or disease progression, both FISH and TP53 analysis must be performed again to improve subsequent lines of treatment.

How is genomic testing used in CLL prognosis?

Anthony Mato, MD, MSCE, Memorial Sloan Kettering Cancer Center, New York, NY, explains that while morphology and flow cytometry are used in CLL diagnostics, genomic testing plays a key role in the prognosis of CLL and supports the understanding of driver mutations, cancer biology and mechanisms of resistance, and helps clinicians with the selection of appropriate therapies.

TP53 testing in CLL – why is it important?

Lukas Frenzel, MD, University of Cologne, Cologne, Germany, discusses the importance of testing for TP53 mutation when making treatment decisions in CLL, the role of TP53 as a master regulator of apoptosis and the role that this gene plays in influencing patient response to different therapies.

How does genomic testing help physicians make treatment decisions?

Barbara Eichhorst, MD, University Hospital Cologne, Cologne, Germany, discusses the importance of genomic testing for detecting TP53 mutation and other genetic aberrations such as IgHV subtypes, the need to monitor patients with high-risk cytogenetics closely and the need to incorporate genomic testing when considering time-limited or continuous treatment plans for patients.


Richard Rosenquist

Received honoraria from AbbVie, AstraZeneca, Illumina, Janssen, and Roche


Anthony Mato

Research support: TG Therapeutics, Pharmacyclics, Abbvie, Adaptive Biotechnologies, Johnson and Johnson, Acerta / AstraZeneca, DTRM BioPharma, Sunesis, BeiGene, Genentech, Genmab, Janssen, Loxo Oncology, Nurix. Advisory/Consultancy/DSMB: TG Therapeutics, Pharmacyclics, Adaptive Biotechnologies, Abbvie, Johnson and Johnson, Acerta / AstraZeneca, DTRM BioPharma, Sunesis, AstraZeneca, BeiGene, Genentech, Janssen, Loxo Oncology


Lukas Frenzel

Abbvie Advisory board


Barbara Eichhorst

I receive honoraria for presentations and advisory board from several different pharmaceutical companies involved in targeted agents in CLL (Abbvie, BeiGene, BMS, Gilead, Janssen, MSD, Roche).

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