What Testing is Done Alongside a Diagnosis of CLL?
With regard to cytogenetic testing, molecular testing, and imaging, Nicole Lamanna, M.D., outlines what testing should be completed alongside a diagnosis of chronic lymphocytic leukemia (CLL).
PUBLISHED December 27, 2018
Nicole Lamanna, M.D.: When a patient first presents with a diagnosis of CLL, I think obviously once they’ve established that diagnosis the most important things are really what are their blood counts, how is their physical exam, and do they have big and bulky lymph nodes or big and bulky organomegaly in their spleen and their liver?
When we talk about sophisticated tests, we talk about cytogenetics for FISH [fluorescence in situ hybridization] or their molecular mutational status, and there’s always a question about whether or not these tests need to be done as soon as a patient is diagnosed, or whether this can appropriately be done prior to them initiating therapy. Now obviously, coming from an academic institution, I’m a little spoiled because we do this testing baseline. However, remember these tests do cost money and some of the peripheral blood testing for these patients can cost them potentially thousands of dollars. So I think when you have these discussions with your patients, if it doesn’t change their current management—i.e., they’re just going to be monitored because their blood counts are normal and they have no bulky disease—as long as the patient is comfortable with that, I think that’s not unreasonable and obviously practical.
Clearly before anybody initiates any therapy for CLL, these tests do need to be done, because I think there have been much data, not just at this meeting but in previous meetings, highlighting the importance of some of this testing because therapy selections really need to be guided by the testing results. So when we talk about the cytogenetics or FISH, if the patient has a p53 or a 17p deletion, patients should be steered away from chemoimmunotherapy, unless it’s chemoimmunotherapy that’s on a clinical trial that combines it with a novel agent. Because they need a novel agent. I think there are a plethora of data suggesting that these patients need a novel agent such as ibrutinib or venetoclax-based therapy.
If their molecular testing reveals they’re unmutated, I think there are very good data from the University of Texas MD Anderson Cancer Center and others showing that patients who are unmutated also do less well with chemoimmunotherapy. And so for these kinds of tests, you do need to perform prior to somebody initiating therapy for their disease. And so I think that’s an important question for the patients to ask their doctors.
In addition, individuals always ask about [CT; computed tomography] scans. Imaging is more routinely done than I’d like, than having FISH or their molecular testing done. I don’t think there’s anything wrong with getting a [CT] scan. But if it doesn’t change your management, then doing one routinely is probably not necessary. I think if somebody has big and bulky lymphadenopathy on the outside on exam and you’re concerned because of that or you’re concerned that they may have a large, bulky abdominal or retroperitoneal mass, then it’s not unreasonable to [CT] scan them at baseline. Otherwise I do tend to get one prior to initiating therapy.
So I do that prior to starting therapy because depending upon what agent you’re going to give them, they may have a higher risk of tumor lysis, and you want to know their baseline with their lymph nodes or their organ involvement and how big they are. So I think those are probably the basic tests that should be done. Clearly as we get more sophisticated there will be more molecular testing that will become available, although right now we’re not necessarily guiding therapy with that just yet. We could talk about NOTCH and other mutations that are emerging, but that is not standard of care just yet. So I think at the very least patients need FISH, cytogenetics, and of course molecular testing and a [CT] scan, which is not unreasonable. But whether you do that at diagnosis or right before starting therapy I think is a little bit up for debate.