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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.
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 treatment option; however, in the age of novel agents, the definition of high-risk CLL is changing.
Richard Rosenquist, MD, PhD, Karolinska Institute, Stockholm, Sweden, highlights the importance of genomic tests such as fluorescence in situ hybridization (FISH) analysis, TP53 mutation screening and testing of IgHV mutational status to inform treatment decisions in patients with CLL.
Richard Rosenquist, MD, PhD, Karolinska Institute, Stockholm, Sweden, discusses some of the key tests performed pre-treatment in patients with CLL, and that after relapse or disease progression, both FISH and TP53 analysis must be performed again to improve subsequent lines of treatment.
Anthony Mato, MD, MSCE, Memorial Sloan Kettering Cancer Center, New York, NY, reviews the use of genomic testing in the prognosis of CLL including understanding of driver mutations, mechanisms of resistance, and selection of therapies.
Lukas Frenzel, MD, University of Cologne, Cologne, Germany, evaluates the influence of testing for TP53 mutation of treatment decisions in CLL, the role of TP53 as a master regulator of apoptosis and the role that this gene plays in influencing patient responses to therapies.
Barbara Eichhorst, MD, University Hospital Cologne, Cologne, Germany, gives her thoughts on the need to monitor patients with high-risk cytogenetics closely and to incorporate genomic testing when considering time-limited or continuous treatment plans for patients.
Received honoraria from AbbVie, AstraZeneca, Illumina, Janssen, and Roche
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
Abbvie Advisory board
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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