Skip to Navigation Skip to Search Skip to Content
Search All Centers

What Does Mutational Status Indicate About CLL Disease Risk?

Read Transcript
View next

Published on December 17, 2019

Key Takeaways

  • Understand what mutations and unmutated genes mean with CLL.
  • Get an overview of 17p deletion, 11q deletion, trisomy 12 and 13q deletion.
  • Learn how mutations determine the aggressiveness of the disease.

At a recent Town Meeting in Portland, Oregon, Dr. Michael Choi and Dr. Jeff Sharman joined Patient Power to discuss different genetic mutations seen in chronic lymphocytic leukemia (CLL) and their associated risks. Watch as the experts help patients understand mutational status and what it indicates about treatment response.

This town meeting is sponsored by Pharmacyclics LLC and Janssen Biotech, Inc. It is produced by Patient Power in partnership with The CLL Global Research Foundation, The US Oncology Network, Compass Oncology, Willamette Valley Cancer Institute and Research Center, and The Leukemia & Lymphoma Society (LLS).

Featuring

Because of this meeting, I created new networks by meeting new CLL patients, and we decided to keep in touch by emailing each other for support.

— CLL Patient, Town Meeting

Partners

CLL Global Research Foundation Compass Oncology The Leukemia & Lymphoma Society (LLS) Willamette Valley Cancer Institute and Research Center

Transcript | What Does Mutational Status Indicate About CLL Disease Risk?

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 you.

Andrew Schorr:          

Dr. Choi, people have heard about different mutations or unmutated. What are we talking about when we say mutated or unmutated? What does that mean? 

Dr. Choi:       

Yeah. So, as Jeff was saying, there are many tests that can help basically stratify the aggressiveness of the disease. One of those is to sequence the antibody gene in the cancerous B cells, so, not necessarily the genetic tests of what you were born with, but what has turned or what has happened to the leukemic cell. The VISTA antibody gene is one that normally gets mutated as a normal B cell matures. 

So, if we find out if the CLL has a mutated version of that gene, we can kind of say that cell that turned into CLL was a little bit more grown up. In my mind, that makes it a little bit slower to progress, a little bit less aggressive, whereas a cell that has an unmutated antibody gene came from a little bit more immature B cell. I think of that as like a teenager that’s a little bit less predictable, a little bit more aggressive.  

Andrew Schorr:          

Let’s underscore that. It seems counterintuitive. Mutated is better prognosis. Unmutated, not quite so good. Okay. Let’s carry it further. So, there’s testing you also do of the chromosomes of the cancer cells and some people have heard about 11q and 17p. So, what are we talking about and what does that have to do with what version of CLL you might have, Dr. Sharman?

Dr. Sharman:       

The analogy I use for my patients is that the IGHV mutation analysis is kind of the gas pedal. Is the gas on? Unmutated, is the gas off, mutated? Then for FISH, what we call fluorescent in situation hybridization, that’s looking at chromosome pieces that there’s this stereotypic pattern within CLL that we see these clusters of abnormalities, not things, as Michael points out, that you’re born with, but things that you acquired. To extend the analogy, in my mind, these are the breaks on the car. 

So, we know that the abnormalities in certain parts of these chromosomes correlate with behavior. So, from worst to best, there’s 17p, 11q, and then you have two that are kind of pretty close together, normal, and an extra copy of chromosome 12 and then the best being 13q. And Q and P designates the long or short arm of the chromosome. 

Andrew Schorr:          

This one, trisomy? 

Dr. Sharman:     

Yeah. So, that’s the extra copy of chromosome 12. So, we call that trisomy 12. So, it just gives a sense how you’re going to respond to treatment. So, by that analogy, how well the breaks work. Patients who have 17p, the breaks don’t work as well. So, you have a more aggressive version in those patients with 13q, where they’re oftentimes very sensitive to particular therapies.

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 you.

View next