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CLL: Diagnostic and Prognostic Criteria

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An overview of tests used to evaluate patients for chronic lymphocytic leukemia and, consequently, inform treatment decisions.

Anthony Mato, MD, MSCE: Kristen, once we get the flow cytometry results, we’ve confirmed the cell surface markers, the immuno-phenotype, and then we often get our molecular genetic testing usually from a peripheral blood source. Can you describe briefly the tests we order that are associated with favorable or unfavorable prognosis?

Kristen Battiato, AGNP-C: We also grab some cytogenetic testing and do FISH [fluorescence in situ hybridization], array, and a karyotype as well. We’ll then do next-generation sequencing to determine whether they have a TP53 mutation.

Anthony Mato, MD, MSCE: I agree. Those are the basics that we often get. Just to be clear, whether we’re looking at favorable or unfavorable cytogenetics, they never dictate the need to start for therapy. These are tests that help inform us about disease biology. But as Kristen mentioned earlier, the indication for therapy is always based on clinical presentation signs and symptoms of disease. Never would we initiate therapy just because a patient had a poor risk feature like a deletion 17p, or a TP53 mutation, for example. But I do agree with what she said. When we finally decide to start therapy, these tests are invaluable to inform not only the best choice but also what’s not appropriate. The obvious thing would be TP53 abnormality, deletion 17p. Those patients are not appropriate to receive chemoimmunotherapy, and you can build a list if you’re IGHV mutated.

If you have deletion on mEq, you’re also not a great candidate for chemoimmunotherapy. Where we are in selection of therapy is a time period in which we know a lot about disease biology but not a lot of information to sway us toward 1 or the other of the targeted approaches, which we’ll get into a little later in terms of what the treatment choices are. The other thing we should mention is that CLL [chronic lymphocytic leukemia] is a disease of genetic instability like all other lymphomas, and the tests that we perform aren’t necessarily going to be the same result that we might see 3 years from now. Even though we get a test for a baseline, we often repeat them 1 or 2 years later, when a patient has a treatment decision, to update the molecular genetic profile of the disease.

Transcript edited for clarity.

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