Know Your CLL

Genetic markers can tell you and your doctor specific information about your chronic lymphocytic leukemia (CLL) and help1-3

  • Determine whether your CLL is low or high risk
  • Predict how the disease may change over time
  • Inform your treatment options

Your genetic markers, as well as your medical history, physical health, stage, and other factors may help you and your doctor better understand your CLL.4

Some genetic markers can suggest that your CLL may require closer follow-up. If you have a genetic marker that might indicate a higher risk, it’s important to talk with your doctor about what it means for your treatment options.1,3

What Your Genetic Markers May Mean

IGHV

The IGHV gene contains instructions for making a part of immunoglobulin proteins (also known as antibodies), which help your body fight off infections. In CLL, these genes are either mutated or unmutated. Mutated IGHV is often associated with a favorable outlook, whereas unmutated IGHV genes can mean that your CLL is higher risk and may not respond as well to certain treatments.1,3

More than 1 in 2 people (56%) with CLL have the unmutated IGHV gene.5

Mutated TP53

The TP53 gene signals whether damaged cells should be repaired or destroyed. If this gene is mutated in someone with CLL, it may mean that CLL is higher risk. Mutated TP53 is often detected in people who also have del 17p.1,3

In fact, more than 80% of people with del 17p also have the TP53 mutation.6

Del 17p (17p-)

When part of a chromosome is missing, it’s called a deletion. One type of deletion that occurs in chromosome 17 is called del 17p, which is common in CLL. This deletion may affect how cancer grows. It is considered a risk factor that may suggest that the disease will progress more quickly.1-3,6,7

Some people with del 17p may not respond to certain treatments. But the FDA has approved treatments that are specific to del 17p CLL.1,2

About 1 in 10 people (10%) newly diagnosed with CLL may test positive for this risk factor.1,8

Del 11q (11q-)

Another deletion is del 11q, which means parts of chromosome 11 are missing. When this occurs, it may affect how DNA repairs itself, which means cancer can continue to grow. Del 11q, or 11q-, is considered a risk factor that can suggest that the CLL may progress more quickly.1,3,7,9

About 1 in 5 people (20%) with CLL may test positive for this risk factor.10

Trisomy 12 (+12)

When there are three copies of a chromosome in a cell, it is called trisomy ("tri" because there are 3 chromosomes instead of the usual 2). Trisomy 12, or +12, is considered medium-risk CLL.11 But people with +12 and other abnormalities may be at a higher risk for the disease to progress.1,3,7

About 10% to 20% of people with CLL may test positive for this risk factor.1

Del 13q (13q-)

Chromosome 13 is home to a gene that helps control cell growth. Del 13q, or 13q-, means that part of chromosome 13 is missing. When that happens, it can affect cancer growth. Del 13q is the most common deletion. When it’s the only genetic marker, it suggests a favorable outlook, which means your CLL may be at a lower risk for progression.1,3,11

Gene and chromosome changes, like those we’ve discussed on this page, can help your doctor better understand your CLL and your treatment plan. Because some risk factors can change over the course of your CLL, tests for certain risk factors may be repeated.5 Talk to your doctor about being tested and about your test results.2,3

Sometimes it's difficult to remember important information that's discussed during doctor visits. Consider bringing someone along to listen or help take notes.12

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References
  1. The Leukemia and Lymphoma Society. Chronic Lymphocytic Leukemia. White Plains, NY: The Leukemia and Lymphoma Society; 2014. Publication No. PS34 40M.
  2. Hallek M, Cheson BD, Catovsky D, et al. iwCLL guidelines for diagnosis, indications for treatment, response assessment, and supportive management of CLL. Blood. 2018;131(25): 2746-2760.
  3. Referenced with permission from the NCCN Guidelines for Patients®: Chronic Lymphocytic Leukemia V.2019. © NCCN Foundation®. 2019. All rights reserved. Accessed May 1, 2019. To view the most recent and complete version of the guideline, go online to NCCN.org/patients. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.
  4. American Cancer Society. Chronic Lymphocytic Leukemia. American Cancer Society website. https://www.cancer.org/cancer/chronic-lymphocytic-leukemia.html. Updated May 10, 2018. Accessed November 7, 2018.
  5. Kröber A, Seiler T, Benner A, et al. VH mutation status, CD38 expression level, genomic aberrations, and survival in chronic lymphocytic leukemia. Blood. 2002;100:1410-1416.
  6. Yu L, Kim H, Kasar S, et al. Survival of del 17p CLL depends on genomic complexity and somatic mutation. Clin Cancer Res. 2001;23(3):735-745.
  7. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma V.4.2020. © National Comprehensive Cancer Network, Inc. 2019. All rights reserved. Accessed December 20, 2019. To view the most recent and complete version of the guideline, go online to NCCN.org. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.
  8. Schnaiter A, Stilgenbauer S. 17p deletion in chronic lymphocytic leukemia: risk stratification and therapeutic approach. Hematol Oncol Clin North Am. 2013;27(2):289-301.
  9. Landau D, Tausch E, Taylor-Weiner A, et al. Mutations driving CLL and their evolution in progression and relapse. Int J Sci Nat. 2015;526(7574):525-530.
  10. Döhner H, Stilgenbauer S, James MR, et al. 11q deletions identify a new subset of B-cell chronic lymphocytic leukemia characterized by extensive nodal involvement and inferior prognosis. Blood. 1997;89(7):2516-2522.
  11. Pekarsky Y, Balatti V, Croce C. BCL2 and miR-15/16: from gene discovery to treatment. Cell Death Differ. 2018;25(1):21-26.
  12. American Cancer Society. Talking with Your Doctor. American Cancer Society website. https://www.cancer.org/content/dam/cancer-org/cancer-control/en/booklets-flyers/talking-with-your-doctor-english-pdf.pdf. Updated November 17, 2015. Accessed October 10, 2018.