what does it mean to be proactive about your hereditary health risks
Know Your CLL
Genetic markers can tell you and your dr. specific information about your chronic lymphocytic leukemia (CLL) and help1-3
- Determine whether your CLL is low or loftier risk
- Predict how the disease may modify over time
- Inform your treatment options
Your genetic markers, as well as your medical history, concrete wellness, phase, and other factors may help y'all and your doctor better empathize your CLL.iv
Some genetic markers can suggest that your CLL may require closer follow-up. If you lot take a genetic marker that might indicate a higher risk, it's important to talk with your doctor about what it means for your handling options.ane,three
What Your Genetic Markers May Hateful
IGHV
The IGHV cistron contains instructions for making a part of immunoglobulin proteins (too known as antibodies), which assistance your torso fight off infections. In CLL, these genes are either mutated or unmutated. Mutated IGHV is frequently associated with a favorable outlook, whereas unmutated IGHV genes can mean that your CLL is college risk and may non respond likewise to certain treatments.one,3
More 1 in 2 people (56%) with CLL have the unmutated IGHV gene.v
Mutated TP53
The TP53 cistron signals whether damaged cells should exist repaired or destroyed. If this factor is mutated in someone with CLL, it may mean that CLL is higher gamble. Mutated TP53 is oftentimes detected in people who also have del 17p.1,3
In fact, more than 80% of people with del 17p besides have the TP53 mutation.vi
Del 17p (17p-)
When part of a chromosome is missing, information technology's chosen a deletion. I type of deletion that occurs in chromosome 17 is chosen del 17p, which is common in CLL. This deletion may affect how cancer grows. It is considered a chance factor that may suggest that the disease will progress more than quickly.1-three,half-dozen,7
Some people with del 17p may not respond to certain treatments. Merely the FDA has approved treatments that are specific to del 17p CLL.ane,two
About 1 in x people (10%) newly diagnosed with CLL may test positive for this adventure cistron.1,viii
Del 11q (11q-)
Another deletion is del 11q, which means parts of chromosome eleven 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 take a chance cistron that can suggest that the CLL may progress more than quickly.1,3,7,9
Near 1 in v people (20%) with CLL may test positive for this gamble cistron.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.xi But people with +12 and other abnormalities may be at a higher take chances for the illness to progress.ane,3,7
Well-nigh 10% to 20% of people with CLL may test positive for this take chances gene.1
Del 13q (13q-)
Chromosome 13 is abode to a gene that helps control prison cell growth. Del 13q, or 13q-, means that role of chromosome 13 is missing. When that happens, information technology can touch on cancer growth. Del 13q is the about common deletion. When it's the only genetic marking, it suggests a favorable outlook, which means your CLL may exist at a lower risk for progression.1,3,xi
Cistron and chromosome changes, like those we've discussed on this page, tin help your medico better empathize 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 well-nigh your test results.two,iii
Sometimes information technology'south difficult to think important information that's discussed during doctor visits. Consider bringing someone along to listen or help take notes.12
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References
- The Leukemia and Lymphoma Society. Chronic Lymphocytic Leukemia. White Plains, NY: The Leukemia and Lymphoma Society; 2014. Publication No. PS34 40M.
- 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.
- Referenced with permission from the NCCN Guidelines for Patients®: Chronic Lymphocytic Leukemia 5.2.2022. © NCCN Foundation®. 2022. All rights reserved. Accessed January vii, 2022. To view the most contempo and complete version of the guideline, go online to NCCN.org/patients. NCCN makes no warranties of whatsoever kind whatsoever regarding their content, use or awarding and disclaims any responsibility for their awarding or apply in whatsoever way.
- American Cancer Society. Chronic Lymphocytic Leukemia. American Cancer Lodge website. https://world wide web.cancer.org/cancer/chronic-lymphocytic-leukemia.html. Updated May x, 2018. Accessed January 7, 2022.
- 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.
- 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(three):735-745.
- 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 Dec xx, 2019. To view the most recent and complete version of the guideline, go online to NCCN.org. NCCN makes no warranties of any kind whatever regarding their content, use or application and disclaims any responsibleness for their application or utilize in any way.
- Schnaiter A, Stilgenbauer S. 17p deletion in chronic lymphocytic leukemia: risk stratification and therapeutic approach. Hematol Oncol Clin North Am. 2013;27(two):289-301.
- Landau D, Tausch E, Taylor-Weiner A, et al. Mutations driving CLL and their development in progression and relapse. Int J Sci Nat. 2015;526(7574):525-530.
- 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(vii):2516-2522.
- Pekarsky Y, Balatti V, Croce C. BCL2 and miR-xv/16: from gene discovery to treatment. Jail cell Death Differ. 2018;25(one):21-26.
- American Cancer Society. Talking with Your Doctor. American Cancer Order website. https://www.cancer.org/content/dam/cancer-org/cancer-control/en/booklets-flyers/talking-with-your-physician-english language-pdf.pdf. Updated November 17, 2015. Accessed January 7, 2022.
Source: https://www.knowyourcll.com/cll-genetics
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