FISH test in CLL: What do trisomy 12 mutation and IgH-V unmutated mean?

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Question from Jean:

I was recently diagnosed with CLL through blood work at my yearly physical. I then went to a cancer hospital and after the FISH test was told my blood showed a trisomy12 mutation and IgH-V unmutated.  Could you please explain to me what exactly that is and my future prognosis?  

I was told that is an intermediate form of CLL and that I will need treatment in the future.  Most the info I find is on the top 30 percent that will most likely need no treatment and the bottom third whose prognosis needs immediate treatment. I have no symptoms and have been classified as pre-CLL. In the last three years, my lymphocyte count has gradually gone up, and my neutrophils are low. 

I would appreciate anything you can tell me that would help me and my family understand what our future holds.

Thank you so much for your help, kindness and knowledge with leukemia patients.

Answer from Dr. Leclair:

Lots of chromosomes can have changes in them. Sometimes those changes happen as the cell matures and becomes functional, while other times they are mistakes in the building of the DNA. The changes in the DNA that occur while the cell is growing up can be used to determine the age of maturity level of the cell.  Some of the mistakes actually cause disease, while sometimes more than one mistake can show up very frequently in a disease. In the case of CLL, there are about six or seven different mutations that are seen often. By following folks who have these mistakes, a pattern of a number of complications or length of time before treatment, etc. can be developed. 

This is a mistake:

Trisomy 12 means that there are lymphocytes that contain an extra chromosome 12 (you are only supposed to have two copies).  In general, people with this take about 10 years or so to get to requiring treatment. And if one were to use the currently accepted treatment, they might have more complications from the therapy.

This is a staging test:

IgH-V stands for Immunoglobulin heavy chain region. The typical antibody is composed of two large (heavy chains) and two smaller light chains. 

As the lymphocyte matures, it "turns on" the ability to make correctly functional heavy chains. So you want pretty much all of your lymphocytes to have changed structure signaling that they are capable of producing normal functional antibodies. If you are IGHV negative, it means that the cells have not turned on this ability to make correct high-quality heavy chains and are younger than other cells. Typically, folks with this begin to think about therapy around 8 to 10 years after diagnosis.  This middle group usually makes decisions based on their signs and symptoms rather than relying on genetic markers. 

Does that help?

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. 

Have a question for the experts? Send them to questions@patientpower.info.

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Page last updated on April 7, 2015