Understanding Genetic Testing and CLL Subsets

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Topics include: Treatments and Understanding

As genetic testing becomes more sophisticated, what clues can results reveal about an individual's course of chronic lymphocytic leukemia (CLL)? Dr. David Maloney, a CLL expert from Seattle Cancer Care Alliance, reviews current tests and mutations that may have an impact a patient's outcome or treatment path.  While testing can be helpful in understanding an individual's disease, Dr. Maloney provides his advice for easing anxiety that many people can experience around the results.

This program was sponsored by The Patient Empowerment Network, which received educational grants from AbbVie, Inc., Genentech and Gilead Sciences, Inc.

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Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for y

Andrew Schorr:

Okay. Now, I got a question for Dr. Maloney. So if you started to learn about CLL, at some point now, maybe they’ve done a cytogenetic or some kind of workup on your CLL, and increasingly more sophisticated testing. And they said well, you have this mutation and that mutation, etc., and it may not be the same for every patient in this room.

So what are we talking about, about almost subsets of CLL? We’ve heard about p53 and 17 whatever, you know, letters and numbers. We don’t understand. Maybe help us understand what that means.

Dr. Maloney:       

So this whole idea of looking at the DNA of the cancer cells came out of the question of can we predict who is going to get sick or not? And so, most of the time when people get diagnosed with the CLL, and especially now, they just show up at the doctor, and they get a routine blood test.

And somebody comes in and says hey, you have too many lymphocytes in your blood. And you say, surprise, now you’ve got a cancer diagnosis of CLL. And no, there are other people who just ignore going to the doctor for years and years and years, and ignore all these symptoms, and giant lymph nodes in their neck, and then they finally show up.

And they may have very advanced CLL at the time of diagnosis. But more and more, people are just being diagnosed on a routine blood test. They feel absolutely fine, no symptoms whatsoever, and they just have too many lymphocytes. And so, so that is a common picture that we see.

And we’re all trying to figure out well, is that a good, is that person going to have a bad prognosis, or are they going to have a good prognosis? And one of the things we recognized was that, depending how screwed up the DNA and those cancer cells essentially could predict people who are at more risk to have a worse course with their CLL. And so there's a test that can look at how the DNA is essentially messed up in the tumor cell, and this is called a FISH test, and you may have heard it.

It's a fluorescent test that looks at the chromosomes of the CLL cells, and they can tell whether there's missing parts or two pieces joined together from two different chromosomes. And so that's what the FISH test is. And so some of those tests will give you something like a 13q deletion or a p53 deletion or a translocation.

And those, each of those translocations has now been associated with an outcome, meaning we can take a hundred people who've had that kind of translocation and see whether they do better than average or worse than average. And so it can provide some useful information.

The problem is they don't tell you exactly what's going to happen to that person. It just says on average people who have this, for example, more likely require therapy on an average people with this don't require therapy for a long period of time. So those tests are really, really important. And so it's important to do the test.

I believe in people, even people who are newly diagnosed. I personally do that test. And that's because I want to know who to worry about, okay? It doesn't mean I'm going to do anything right away. But if I find the really high-risk features in someone, then I'm going to watch them a little closer and, and think about therapy.

Conversely, if you find someone that has all the lowest features, then you can maybe watch less frequently, because it's very unlikely they're going to progress quickly. So that's where we are currently with that, that test.

And some of the ones that are more worrisome are p53, that's the one, or 17p, that's the one people are kind of currently keeping their eyes on as a predictor of people who are more likely to have their disease heat up and more likely to need treatment.

Andrew Schorr:

But I've met people with 17p who have a lot of treatment, and I've also met people 17p who have not.

Dr. Maloney:

Absolutely. I have people who I am watching with 17p, and I'm nervous, they're nervous, everyone's nervous. But does it, if they're not having any symptoms, they're not having, and their quality of life is normal.

I mean, if you think about it, you have a clone of CLL, and you're completely normal except for the psychological impact of finding out you have CLL. I'm not going to make you any better by giving you chemotherapy, right?

At best, I'm going to make you sick from the chemotherapy. I may make you falsely think that you're okay now, because your clone is gone. But, in reality it's not going to, it's not going to make any difference. And so I'm a firm believer in fixing whatever the problem is.

So if there is a problem I'm fixing, you're fatigued, you're having symptoms, your bone marrow doesn't work because it crowded out with CLL, then you need to be treated. If you don't, then I don't think you need to be treated unless there's, you know, unless there's problem.

So, again, remember, I can't make you better than asymptomatic, except for that mental thing. And that mental thing is really hard. That mental thing is really hard to deal with. But what you'll find, and I think you'll, when we hear from the patients so that people worry a lot about this at the beginning.

And then after you've gone through, if you're one of those lucky ones, where it's kind of not progressing, and then it's a little easier to come in 10 years down the road and not get quite so nervous.

You still get nervous. And I tell people just worry about it the day you come see me and then put it out of your mind for the next three months and worry about it again the next, you know, time you come in to see me. So it's a lot about living with this disease that you've got to learn.

So what are we talking about, about almost subsets of CLL? We’ve heard about p53 and 17 whatever, you know, letters and numbers. We don’t understand. Maybe help us understand what that means.

Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for y

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Page last updated on November 5, 2015